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Number of items: 556.

2019

Bandres-Ciga, S; Saez-Atienzar, S; Bonet-Ponce, L; Billingsley, K; Vitale, D; Blauwendraat, C; Gibbs, JR; ... Singleton, AB; + view all (2019) The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease. Movement Disorders , 34 (4) pp. 460-468. 10.1002/mds.27614.

Banerjee, G; Adams, ME; Jaunmuktane, Z; Lammie, GA; Turner, B; Wani, M; Sawhney, IMS; ... Werring, DJ; + view all (2019) Early‐onset Cerebral Amyloid Angiopathy Following Childhood Exposure to Cadaveric Dura. Annals of Neurology 10.1002/ana.25407. (In press).

Bell, S; Rousseau, J; Peng, H; Aouabed, Z; Priam, P; Theroux, J-F; Jefri, M; ... Campeau, PM; + view all (2019) Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. The American Journal of Human Genetics , 104 (5) pp. 815-834. 10.1016/j.ajhg.2019.03.022.

Chelban, V; Wilson, MP; Warman Chardon, J; Vandrovcova, J; Zanetti, MN; Zamba-Papanicolaou, E; Efthymiou, S; ... SYNaPS Study Group, .; + view all (2019) PDXK mutations cause polyneuropathy responsive to PLP supplementation. Annals of Neurology 10.1002/ana.25524. (In press). Green open access
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Cortese, A; Simone, R; Sullivan, R; Vandrovcova, J; Tariq, H; Yan, YW; Humphrey, J; ... Houlden, H; + view all (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics , 51 (4) pp. 649-658. 10.1038/s41588-019-0372-4.

Foti, S; Hargreaves, I; Carrington, S; Kiely, AP; Houlden, H; Holton, J; (2019) Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson’s disease. Scientific Reports , 9 , Article 6559. 10.1038/s41598-019-42902-7. Green open access
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Habib, A; Okorokov, A; Hill, M; Bras, J; Lee, M-C; Li, S; Gossage, S; ... Cox, J; + view all (2019) Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. British Journal of Anaesthesia , 123 (2) e249-e253. 10.1016/j.bja.2019.02.019. Green open access
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Horga, A; Bugiardini, E; Manole, A; Bremner, F; Jaunmuktane, Z; Dankwa, L; Rebelo, AP; ... Reilly, MM; + view all (2019) Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy. Neurology: Genetics , 5 (2) , Article e322. 10.1212/NXG.0000000000000322. Green open access
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Jabbari, E; Woodside, J; Guo, T; Magdalinou, NK; Chelban, V; Athauda, D; Lees, AJ; ... Morris, HR; + view all (2019) Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2018-320151. Green open access
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Kovac, S; Preza, E; Houlden, H; Walker, MC; Abramov, AY; (2019) Impaired Bioenergetics in Mutant Mitochondrial DNA Determines Cell Fate During Seizure-Like Activity. Molecular Neurobiology , 56 (1) pp. 321-334. 10.1007/s12035-018-1078-9. Green open access
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O'Callaghan, B; Houlden, H; Bosch, AM; (2019) An Update on the Genetics, Clinical Presentation and Pathomechanisms of Human Riboflavin Transporter Deficiency. Journal of Inherited Metabolic Disease , 42 (4) pp. 598-607. 10.1002/jimd.12053.

Salpietro, V; Dixon, CL; Guo, H; Bello, OD; Vandrovcova, J; Efthymiou, S; Maroofian, R; ... Houlden, H; + view all (2019) AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nature Communications , 10 (1) , Article 3094. 10.1038/s41467-019-10910-w. Green open access
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Salpietro, V; Malintan, NT; Llano-Rivas, I; Spaeth, CG; Efthymiou, S; Striano, P; Vandrovcova, J; ... Houlden, H; + view all (2019) Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. American Journal of Human Genetics , 104 (4) pp. 721-730. 10.1016/j.ajhg.2019.02.016. Green open access
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Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; ... Chinnery, PF; + view all (2019) Germline selection shapes human mitochondrial DNA diversity. Science , 364 (6442) , Article eaau6520. 10.1126/science.aau6520. Green open access
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de Paiva, ARB; Lynch, DS; Melo, US; Lucato, LT; Freua, F; de Assis, BDR; Barcelos, I; ... Kok, F; + view all (2019) PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy. Neurology Genetics , 5 (1) , Article e306. 10.1212/NXG.0000000000000306. Green open access
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2018

Alg, VS; Ke, X; Grieve, J; Bonner, S; Walsh, DC; Bulters, D; Kitchen, N; ... Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study, .; + view all (2018) Association of functional MMP-2 gene variant with intracranial aneurysms: case-control genetic association study and meta-analysis. British Journal of Neurosurgery , 32 (3) pp. 255-259. 10.1080/02688697.2018.1427213. Green open access
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Balint, B; Wiethoff, S; Martino, D; Del Gamba, C; Latorre, A; Ganos, C; Houlden, H; (2018) Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics. Movement Disorders Clinical Practice , 5 (3) pp. 317-320. 10.1002/mdc3.12615. Green open access
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Blauwendraat, C; Kia, DA; Pihlstrom, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; ... Wood, NW; + view all (2018) Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging , 64 159.e5-159.e8. 10.1016/j.neurobiolaging.2017.12.012. Green open access
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Brownjohn, PW; Smith, J; Solanki, R; Lohmann, E; Houlden, H; Hardy, J; Dietmann, S; (2018) Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia. Stem Cell Reports , 10 (4) pp. 1294-1307. 10.1016/j.stemcr.2018.03.003. Green open access
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Bugiardini, E; Morrow, JM; Shah, S; Woods, CL; Lynch, DS; Pitmann, AM; Reilly, MM; ... Yousry, TA; + view all (2018) The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies. Frontiers in Neurology , 9 , Article 456. 10.3389/fneur.2018.00456. Green open access
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Chelban, V; Bocchetta, M; Hassanein, S; Haridy, NA; Houlden, H; Rohrer, JD; (2018) An update on advances in magnetic resonance imaging of multiple system atrophy. Journal of Neurology 10.1007/s00415-018-9121-3. (In press). Green open access
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Chelban, V; Wiethoff, S; Fabian-Jessing, BK; Haridy, NA; Khan, A; Efthymiou, S; Becker, EBE; ... Houlden, H; + view all (2018) Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. Movement Disorders , 33 (7) pp. 1119-1129. 10.1002/mds.27334. Green open access
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Coleman, J; Jouannot, O; Ramakrishnan, SK; Zanetti, MN; Wang, J; Salpietro, V; Houlden, H; ... Krishnakumar, SS; + view all (2018) PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly. Cell Reports , 22 (3) pp. 820-831. 10.1016/j.celrep.2017.12.056. Green open access
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Desikan, M; Scalco, RS; Manole, A; Gardiner, A; schapira, A; Lachmann, R; Houlden, H; ... Quinlivan, R; + view all (2018) GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2). Neuromuscular Disorders , 28 (4) pp. 346-349. 10.1016/j.nmd.2018.01.002. Green open access
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Durigon, R; Mitchell, AL; Jones, AW; Manole, A; Mennuni, M; Hirst, EM; Houlden, H; ... Spinazzola, A; + view all (2018) LETM1 couples mitochondrial DNA metabolism and nutrient preference. EMBO Molecular Medicine , 10 (7) 10.15252/emmm.201708550. Green open access
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Garcia-Reitboeck, P; Phillips, A; Piers, TM; Villegas-Llerena, C; Butler, M; Mallach, A; Rodrigues, C; ... Pocock, JM; + view all (2018) Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis. Cell Reports , 24 (9) pp. 2300-2311. 10.1016/j.celrep.2018.07.094. Green open access
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Ghosh, SG; Becker, K; Huang, H; Dixon-Salazar, T; Chai, G; Salpietro, V; Al-Gazali, L; ... Gleeson, JG; + view all (2018) Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics , 103 (5) pp. 431-439. 10.1016/j.ajhg.2018.07.010. Green open access
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Habib, AM; Matsuyama, A; Okorokov, AL; Santana, S; Bras, JT; Aloisi, AM; Emery, EC; ... Cox, JJ; + view all (2018) A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. Brain , 141 (2) pp. 365-376. 10.1093/brain/awx326. Green open access
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Koriath, C; (2018) Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Molecular Psychiatry 10.1038/s41380-018-0224-0. (In press). Green open access
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Lynch, DS; Chelban, V; Vandrovcova, J; Pittman, A; Wood, NW; Houlden, H; (2018) GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. Annals of Clinical and Translational Neurology , 5 (2) pp. 216-221. 10.1002/acn3.522. Green open access
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Lynch, DS; Wade, C; Paiva, ARBD; John, N; Kinsella, JA; Merwick, Á; Ahmed, RM; ... Chataway, J; + view all (2018) Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2018-319481. (In press). Green open access
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Matthews, E; Neuwirth, C; Jaffer, F; Scalco, RS; Fialho, D; Parton, M; Raja Rayan, D; ... Hanna, MG; + view all (2018) Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Neurology , 90 (5) e412-e418. 10.1212/WNL.0000000000004894. Green open access
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Mokretar, K; Pease, D; Taanman, J-W; Soenmez, A; Ejaz, A; Lashley, T; Ling, H; ... Proukakis, C; + view all (2018) Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains. Brain 10.1093/brain/awy157. (In press). Green open access
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Nethisinghe, S; Lim, WN; Ging, H; Zeitlberger, A; Abeti, R; Pemble, S; Sweeney, MG; ... Giunti, P; + view all (2018) Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. Frontiers in Cellular Neuroscience , 12 , Article 429. 10.3389/fncel.2018.00429. Green open access
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Niccolini, F; Mencacci, NE; Yousaf, T; Rabiner, EA; Salpietro, V; Pagano, G; Balint, B; ... Politis, M; + view all (2018) PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology. Movement Disorders 10.1002/mds.27523. (In press).

O'Connor, E; Vandrovcova, J; Bugiardini, E; Chelban, V; Manole, A; Davagnanam, I; Wiethoff, S; ... Wood, NW; + view all (2018) Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2017-317581. Green open access
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Okubadejo, NU; Rizig, M; Ojo, OO; Jonvik, H; Oshinaike, O; Brown, E; Houlden, H; (2018) Leucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson disease. PLOS ONE , 13 (12) , Article e0207984. 10.1371/journal.pone.0207984. Green open access
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Pihlstrom, L; Schottlaender, L; Chelban, V; Houlden, H; (2018) LRP10 in alpha-synucleinopathies. Lancet Neurology , 17 (12) pp. 1033-1034. 10.1016/S1474-4422(18)30407-1. Green open access
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Pihlstrøm, L; Wiethoff, S; Houlden, H; (2018) Genetics of neurodegenerative diseases: an overview. Handbook of Clinical Neurology , 145 pp. 309-323. 10.1016/B978-0-12-802395-2.00022-5.

Pironti, E; Granata, F; Cucinotta, F; Gagliano, A; Efthymiou, S; Houlden, H; Salpietro, V; (2018) Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study. Epileptic Disorders , 20 (5) pp. 423-427. 10.1684/epd.2018.0992. Green open access
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Pironti, E; Salpietro, V; Cucinotta, F; Granata, F; Mormina, E; Efthymiou, S; Scuderi, C; ... Di Rosa, G; + view all (2018) A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study. Journal of Neurogenetics , 32 (4) pp. 316-321. 10.1080/01677063.2018.1476510. Green open access
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Salpietro, V; Manole, A; Efthymiou, S; Houlden, H; (2018) A Review of Copy Number Variants in Inherited Neuropathies. [Review]. Current Genomics , 19 (6) pp. 412-419. 10.2174/1389202919666180330153316. Green open access
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Salpietro, V; Perez-Dueñas, B; Nakashima, K; San Antonio-Arce, V; Manole, A; Efthymiou, S; Vandrovcova, J; ... Houlden, H; + view all (2018) A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. Movement Disorders , 33 (3) pp. 482-488. 10.1002/mds.27286. Green open access
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Silveira-Moriyama, L; Kovac, S; Kurian, MA; Houlden, H; Lees, AJ; Walker, MC; Roze, E; ... Warner, TT; + view all (2018) Phenotypes, genotypes, and the management of paroxysmal movement disorders. Development Medicine and Child Neurology , 60 (6) pp. 559-565. 10.1111/dmcn.13744. Green open access
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Sullivan, R; Yau, WY; O'Connor, E; Houlden, H; (2018) Spinocerebellar ataxia: an update. Journal of Neurology 10.1007/s00415-018-9076-4. (In press). Green open access
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Tomaselli, PJ; Horga, A; Rossor, AM; Jaunmuktane, Z; Cortese, A; Blake, JC; Zarate-Lopez, N; ... Reilly, MM; + view all (2018) IGHMBP2 mutation associated with organ-specific autonomic dysfunction. Neuromuscular Disorders , 28 (12) pp. 1012-1015. 10.1016/j.nmd.2018.08.010. Green open access
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Wiethoff, S; O'Connor, E; Haridy, NA; Nethisinghe, S; Wood, N; Giunti, P; Bettencourt, C; (2018) Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset. [Letter]. J Neurol Neurosurg Psychiatry , 89 (11) pp. 1226-1227. 10.1136/jnnp-2017-317253. Green open access
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Wilson, D; Ambler, G; Banerjee, G; Shakeshaft, C; Cohen, H; Yousry, TA; Al-Shahi Salman, R; ... Werring, DJ; + view all (2018) Early versus late anticoagulation for ischaemic stroke associated with atrial fibrillation: multicentre cohort study. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2018-318890. (In press). Green open access
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Wilson, D; Ambler, G; Shakeshaft, C; Brown, MM; Charidimou, A; Salman, RA-S; Lip, GYH; ... Werring, DJ; + view all (2018) Cerebral microbleeds and intracranial haemorrhage risk in patients anticoagulated for atrial fibrillation after acute ischaemic stroke or transient ischaemic attack (CROMIS-2): a multicentre observational cohort study. The Lancet Neurology , 17 (6) pp. 539-547. 10.1016/S1474-4422(18)30145-5. Green open access
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Yaldizli, Ö; Sethi, V; Pardini, M; Tur, C; Mok, KY; Muhlert, N; Liu, Z; ... Chard, DT; + view all (2018) Response to the commentary of Yates RL and DeLuca GC on the study: HLA-DRB1*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis. Multiple Sclerosis and Related Disorders , 19 pp. 168-170. 10.1016/j.msard.2016.08.006. Green open access
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2017

Anazi, S; Maddirevula, S; Salpietro, V; Asi, YT; Alsahli, S; Alhashem, A; Shamseldin, HE; ... Alkuraya, FS; + view all (2017) Expanding the genetic heterogeneity of intellectual disability. Human Genetics , 136 (11-12) pp. 1419-1429. 10.1007/s00439-017-1843-2. Green open access
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Arber, C; Angelova, PR; Wiethoff, S; Tsuchiya, Y; Mazzacuva, F; Preza, E; Bhatia, KP; ... Wray, S; + view all (2017) iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. PLoS One , 12 (9) , Article e0184104. 10.1371/journal.pone.0184104. Green open access
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Bettencourt, C; Salpietro, V; Efthymiou, S; Chelban, V; Hughes, D; Pittman, AM; Federoff, M; ... Xiromerisiou, G; + view all (2017) Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. Orphanet Journal of Rare Diseases , 12 , Article 172. 10.1186/s13023-017-0721-2. Green open access
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Blauwendraat, C; Faghri, F; Pihlstrom, L; Geiger, JT; Elbaz, A; Lesage, S; Corvol, J-C; ... Scholz, S; + view all (2017) NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiology of Aging , 57 247.e9-247.e13. 10.1016/j.neurobiolaging.2017.05.009. Green open access
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Bugiardini, E; Poole, OV; Manole, A; Pittman, AM; Horga, A; Hargreaves, I; Woodward, CE; ... Pitceathly, RDS; + view all (2017) Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. Neurology Genetics , 3 (3) , Article e149. 10.1212/NXG.0000000000000149. Green open access
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Bugiardini, E; Rossor, AM; Lynch, DS; Swash, M; Pittman, AM; Blake, JC; Hanna, MG; ... Matthews, E; + view all (2017) Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy. Neurology Genetics , 3 (4) , Article e168. 10.1212/NXG.0000000000000168. Green open access
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Chelban, V; Manole, A; Pihlstrøm, L; Schottlaender, L; Efthymiou, S; OConnor, E; Meissner, WG; ... Houlden, H; + view all (2017) Analysis of the prion protein gene in multiple system atrophy. Neurobiology of Aging , 49 216.e15-216.e18. 10.1016/j.neurobiolaging.2016.09.021. Green open access
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Chelban, V; Patel, N; Vandrovcova, J; Zanetti, MN; Lynch, DS; Ryten, M; Botia, JA; ... Houlden, H; + view all (2017) Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. American Journal of Human Genetics , 100 (6) pp. 969-977. 10.1016/j.ajhg.2017.05.009. Green open access
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Haenseler, W; Zambon, F; Lee, H; Vowles, J; Rinaldi, F; Duggal, G; Houlden, H; ... Cowley, SA; + view all (2017) Excess α-synuclein compromises phagocytosis in iPSC-derived macrophages. Scientific Reports , 7 , Article 9003. 10.1038/s41598-017-09362-3. Green open access
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Horga, A; Laurà, M; Jaunmuktane, Z; Jerath, NU; Gonzalez, MA; Polke, JM; Poh, R; ... Reilly, MM; + view all (2017) Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery and Psychiatry , 88 (7) pp. 575-585. 10.1136/jnnp-2016-315077. Green open access
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Hostettler Moreno, I; Alg, V; Shahi, N; Jichi, F; Bonner, S; Walsh, D; Bulters, D; ... Werring, D; + view all (2017) Characteristics of Unruptured Compared to Ruptured Intracranial Aneurysms: A Multicenter Case–Control Study. Neurosurgery 10.1093/neuros/nyx365. (In press). Green open access
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Hwang, YT; Lakshmanan, R; Davagnanam, I; Thompson, AGB; Lynch, DS; Houlden, H; Bajaj, N; ... Warren, JD; + view all (2017) Brainstem phenotype of cathepsin A-related arteriopathy with strokes and leukoencephalopathy. Neurology Genetics , 3 (4) , Article e165. 10.1212/NXG.0000000000000165. Green open access
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Jaffer, F; Fawcett, K; Sims, D; Heger, A; Houlden, H; Hanna, MG; Kingston, H; (2017) Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation. Neurology Genetics , 3 (2) , Article e145. 10.1212/NXG.0000000000000145. Green open access
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Jones, L; Houlden, H; Tabrizi, SJ; (2017) DNA repair in the trinucleotide repeat disorders. The Lancet Neurology , 16 (1) pp. 88-96. 10.1016/S1474-4422(16)30350-7. Green open access
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Lakshmanan, R; Adams, ME; Lynch, DS; Kinsella, JA; Phadke, R; Schott, JM; Murphy, E; ... Davagnanam, I; + view all (2017) Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy. Neurology Genetics , 3 (2) , Article e135. 10.1212/NXG.0000000000000135. Green open access
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Ludtmann, MHR; Arber, C; Bartolome, F; de Vicente, M; Preza, E; Carro, E; Houlden, H; ... Abramov, AY; + view all (2017) Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons. Journal of Biological Chemistry , 292 (21) pp. 8907-8917. 10.1074/jbc.M116.762898. Green open access
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Lynch, DS; Houlden, H; (2017) Letter re: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy. [Letter]. Neurology , 88 (20) p. 1978. 10.1212/WNL.0000000000003948. Green open access
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Lynch, DS; Loh, SHY; Harley, J; Noyce, AJ; Martins, LM; Wood, NW; Houlden, H; (2017) Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations. Neurology Genetics , 3 (5) , Article e188. 10.1212/NXG.0000000000000188. Green open access
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Lynch, DS; Rodrigues Brandão de Paiva, A; Zhang, WJ; Bugiardini, E; Freua, F; Tavares Lucato, L; Macedo-Souza, LI; ... Houlden, H; + view all (2017) Clinical and genetic characterization of leukoencephalopathies in adults. Brain , 140 (5) pp. 1204-1211. 10.1093/brain/awx045. Green open access
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Manole, A; Jaunmuktane, Z; Hargreaves, I; Ludtmann, MHR; Salpietro, V; Bello, OD; Pope, S; ... Houlden, H; + view all (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain , 140 (11) pp. 2820-2837. 10.1093/brain/awx231. Green open access
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Manole, A; Mannikko, R; Hanna, MG; Kullmann, DM; Houlden, H; (2017) De novo KCNA2 mutations cause hereditary spastic paraplegia. [Letter]. Annals of Neurology , 81 (2) pp. 326-328. 10.1002/ana.24866. Green open access
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Meyer, E; Carss, KJ; Rankin, J; Nichols, JM; Grozeva, D; Joseph, AP; Mencacci, NE; ... Kurian, MA; + view all (2017) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics , 49 (2) pp. 223-237. 10.1038/ng.3740. Green open access
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Murphy, NA; Arthur, KC; Tienari, PJ; Houlden, H; Chio, A; Traynor, BJ; (2017) Age-related penetrance of the C9orf72 repeat expansion. Scientific Reports , 7 , Article 2116. 10.1038/s41598-017-02364-1. Green open access
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Praschberger, R; Lowe, SA; Malintan, NT; Giachello, CNG; Patel, N; Houlden, H; Kullmann, DM; ... Jepson, JEC; + view all (2017) Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity. Cell Rep , 21 (1) pp. 97-109. 10.1016/j.celrep.2017.09.004. Green open access
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Salpietro, V; Efthymiou, S; Manole, A; Maurya, B; Wiethoff, S; Ashokkumar, B; Cutrupi, MC; ... Houlden, H; + view all (2017) A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. Hum Mutat 10.1002/humu.23368. (In press). Green open access
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Salpietro, V; Lin, W; Delle Vedove, A; Storbeck, M; Liu, Y; Efthymiou, S; Manole, A; ... Houlden, H; + view all (2017) Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome. Annals of Neurology , 81 (4) pp. 597-603. 10.1002/ana.24905. Green open access
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Salpietro, V; Zollo, M; Vandrovcova, J; Ryten, M; Botia, JA; Ferrucci, V; Manole, A; ... Houlden, H; + view all (2017) The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. Brain , 140 (8) e49. 10.1093/brain/awx155. Green open access
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Scalco, RS; Lorenzoni, PJ; Lynch, DS; Martins, WA; Jungbluth, H; Quinlivan, R; Becker, J; (2017) Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? American Journal of Case Reports , 18 pp. 17-21. 10.12659/AJCR.900970. Green open access
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Schutz, PW; Scalco, RS; Barresi, R; Houlden, H; Parton, M; Holton, JL; (2017) Calpainopathy with macrophage-rich, regional inflammatory infiltrates. Neuromuscular Disorders , 27 (8) pp. 738-741. 10.1016/j.nmd.2017.04.012. Green open access
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Tomaselli, PJ; Rossor, AM; Horga, A; Jaunmuktane, Z; Carr, A; Saveri, P; Piscosquito, G; ... Reilly, MM; + view all (2017) Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. Neurology , 88 (15) pp. 1445-1453. 10.1212/WNL.0000000000003819. Green open access
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Tomaselli, PJ; Rossor, AM; Horga, A; Laura, M; Blake, JC; Houlden, H; Reilly, MM; (2017) A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. Journal of the Peripheral Nervous System 10.1111/jns.12235. (In press). Green open access
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Udhayabanu, T; Manole, A; Rajeshwari, M; Varalakshmi, P; Houlden, H; Ashokkumar, B; (2017) Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases. Journal of Clinical Medicine , 6 (5) , Article 52. 10.3390/jcm6050052. Green open access
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Watson, LM; Bamber, E; Schnekenberg, RP; Williams, J; Bettencourt, C; Lickiss, J; Fawcett, K; ... Németh, AH; + view all (2017) Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. American Journal of Human Genetics , 101 (3) pp. 451-458. 10.1016/j.ajhg.2017.08.005. Green open access
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Whittaker, HT; Qui, Y; Bettencourt, C; Houlden, H; (2017) Multiple system atrophy: genetic risks and alpha-synuclein mutations. F1000Research , 6 , Article 2072. 10.12688/f1000research.12193.1. Green open access
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Wiethoff, S; Bettencourt, C; Paudel, R; Madon, P; Liu, YT; Hersheson, J; Wadia, N; ... Houlden, H; + view all (2017) Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene. Cerebellum , 16 (1) pp. 262-267. 10.1007/s12311-016-0769-x. Green open access
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Wiethoff, S; Houlden, H; (2017) Chapter 11 - Neurodegeneration with brain iron accumulation. Handbook of Clinical Neurology , 145 pp. 157-166. 10.1016/B978-0-12-802395-2.00011-0.

Zollo, M; Ahmed, M; Ferrucci, V; Salpietro, V; Asadzadeh, F; Carotenuto, M; Maroofian, R; ... Baple, EL; + view all (2017) PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. BRAIN , 140 (4) pp. 940-952. 10.1093/brain/awx014. Green open access
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2016

Akman, G; Desai, R; Bailey, LJ; Yasukawa, T; Rosa, ID; Durigon, R; Holmes, JB; ... Holt, IJ; + view all (2016) Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria. Proceedings of The National Academy of Sciences of The United States of America (PNAS) , 113 (30) E4276-E4285. 10.1073/pnas.1600537113. Green open access
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Arber, C; Li, A; Houlden, H; Wray, S; (2016) Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. Neuropathol Appl Neurobiol , 42 (3) pp. 220-241. 10.1111/nan.12242. Green open access
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Balint, B; Erro, R; Salpietro, V; Houlden, H; Bhatia, KP; (2016) PKD or Not PKD: That is the question. [Letter]. Annals of Neurology , 80 (1) pp. 167-168. 10.1002/ana.24668. Green open access
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Bettencourt, C; Forabosco, P; Wiethoff, S; Heidari, M; Johnstone, DM; Botía, JA; Collingwood, JF; ... Houlden, H; + view all (2016) Gene co-expression networks shed light into diseases of brain iron accumulation. Neurobiology of Disease , 87 pp. 59-68. 10.1016/j.nbd.2015.12.004. Green open access
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Bettencourt, C; Hensman-Moss, D; Flower, M; Wiethoff, S; Brice, A; Goizet, C; Stevanin, G; ... Jones, L; + view all (2016) DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Annals of Neurology , 79 (6) pp. 983-990. 10.1002/ana.24656. Green open access
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Brady, S; Healy, E; Gang, Q; White, B; Jacob, S; Houlden, H; Holton, J; (2016) The utility of immunohistochemistry in the assessment of myopathies with tubular aggregates and cylindrical spirals. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

Brady, S; Healy, EG; Gang, Q; Parton, M; Quinlivan, R; Jacob, S; Curtis, E; ... Holton, JL; + view all (2016) Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures. Journal of Neuropathology and Experimental Neurology , 75 (12) pp. 1171-1178. 10.1093/jnen/nlw096. Green open access
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Bugiardini, E; Lynch, D; Pittman, A; Pihlstrom, L; Morrow, JM; Parton, M; Holton, JL; ... Hanna, MG; + view all (2016) NEXT GENERATION SEQUENCING IN INHERITED MYOPATHIES. Presented at: Annual Meeting of the Muscle-Study-Group on Models of Neuromuscular Disease scross the Lifespan, Snowbird, UT.

Bugiardini, E; Poole, O; Manole, A; Horga, A; Hargreaves, I; Holton, JL; Woodward, CE; ... Pitceathly, RDS; + view all (2016) RNASEH1 MUTATIONS ARE A RARE CAUSE OF CPEO WITH MULTIPLE MTDNA DELETIONS. Presented at: Annual Meeting of the Muscle-Study-Group on Models of Neuromuscular Disease scross the Lifespan, Snowbird, UT.

Chelban, V; Tucci, A; Houlden, H; (2016) Development of the UK hereditary spastic paraplegia registry: Analysis of SPAST patients reveals high rate of psychiatric comorbidities. Presented at: 20th International Congress of Parkinson's Disease and Movement Disorders, Berlin, GERMANY.

Doherty, KM; De Pablo-Fernandez, E; Houlden, H; Polke, JM; Lees, AJ; Warner, TT; Holton, JL; (2016) MSA-C or SCA 17? A clinicopathological case update. Movement Disorders , 31 (10) pp. 1582-1584. 10.1002/mds.26741.

Efthymiou, S; Manole, A; Houlden, H; (2016) Next-generation sequencing in neuromuscular diseases. Current Opinion in Neurology , 29 (5) pp. 527-536. 10.1097/WCO.0000000000000374. Green open access
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Gang, Q; Bettencourt, C; Machado, PM; Brady, S; Holton, JL; Pittman, AM; Hughes, D; ... Muscle Study Group and The International IBM Genetics Consortium, .; + view all (2016) Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiology of Aging , 47 218.e1-218.e9. 10.1016/j.neurobiolaging.2016.07.024. Green open access
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Gardiner, AR; (2016) A genetic investigation of the muscle and neuronal channelopathies: from Sanger to next-generation sequencing. Doctoral thesis , UCL (University College London). Green open access
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Heidari, M; Gerami, SH; Bassett, B; Graham, RM; Chua, ACG; Aryal, R; House, MJ; ... Milward, EA; + view all (2016) Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases. Rare Diseases , 4 (1) , Article e1198458. 10.1080/21675511.2016.1198458. Green open access
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Heidari, M; Johnstone, DM; Bassett, B; Graham, RM; Chua, AC; House, MJ; Collingwood, JF; ... Milward, EA; + view all (2016) Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features. Molecular Psychiatry , 21 pp. 1599-1607. 10.1038/mp.2015.192. Green open access
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Horga, A; Tomaselli, PJ; Gonzalez, MA; Laurà, M; Muntoni, F; Manzur, AY; Hanna, MG; ... Reilly, MM; + view all (2016) SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology , 87 (15) pp. 1607-1612. 10.1212/WNL.0000000000003212. Green open access
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Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; ... Houlden, H; + view all (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain , 139 (7) pp. 1904-1918. 10.1093/brain/aww111. Green open access
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Kullmann, D; Houlden, H; Lunn, M; (2016) Mechanisms of Neurological Disease: Genetics, Autoimmunity and Ion Channels. In: Neurology: A Queen Square Textbook: Second Edition. (pp. 69-95).

Lynch, DS; Jaunmuktane, Z; Sheerin, UM; Phadke, R; Brandner, S; Milonas, I; Dean, A; ... Houlden, H; + view all (2016) Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. Journal of Neurology, Neurosurgery and Psychiatry , 87 (5) pp. 512-519. 10.1136/jnnp-2015-310788. Green open access
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Lynch, DS; Koutsis, G; Tucci, A; Panas, M; Baklou, M; Breza, M; Karadima, G; (2016) Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. European Journal of Human Genetics , 24 (6) pp. 857-863. 10.1038/ejhg.2015.200. Green open access
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Lynch, DS; Wood, NW; Houlden, H; (2016) Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A. Neurology Genetics , 2 (5) , Article e101. 10.1212/NXG.0000000000000101. Green open access
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Lynch, DS; Zhang, WJ; Lakshmanan, R; Kinsella, JA; Uzun, GA; Karbay, M; Tufekcioglu, Z; ... Houlden, H; + view all (2016) Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. JAMA Neurology , 73 (12) pp. 1433-1439. 10.1001/jamaneurol.2016.2229. Green open access
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Madeo, M; Stewart, M; Sun, Y; Sahir, N; Wiethoff, S; Chandrasekar, I; Yarrow, A; ... Kruer, MC; + view all (2016) Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American Journal of Human Genetics , 98 (6) pp. 1249-1255. 10.1016/j.ajhg.2016.04.008. Green open access
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Manole, A; Chelban, V; Haridy, NA; Hamed, SA; Berardo, A; Reilly, MM; Houlden, H; (2016) Severe axonal neuropathy is a late manifestation of SPG11. Journal of Neurology , 263 (11) pp. 2278-2286. 10.1007/s00415-016-8254-5. Green open access
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Manole, A; Horga, A; Gamez, J; Raguer, N; Salvado, M; San Millan, B; Navarro, C; ... Houlden, H; + view all (2016) SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. Neurogenetics , 18 (1) pp. 63-67. 10.1007/s10048-016-0505-1. Green open access
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Manole, A; Pandraud, A; Reilly, MM; Jepson, JEC; Houlden, H; (2016) Human, fly and cellular models of riboflavin transporter neuronopathy. Presented at: 20th International Congress of Parkinson's Disease and Movement Disorders, Berlin, GERMANY.

Mencacci, NE; Kamsteeg, EJ; Nakashima, K; R'Bibo, L; Lynch, DS; Balint, B; Willemsen, MA; ... Bhatia, KP; + view all (2016) De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. The American Journal of Human Genetics , 98 (4) pp. 763-771. 10.1016/j.ajhg.2016.02.015. Green open access
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Mencacci, NE; Kamsteeg, EJ; R'Bibo, L; Lynch, D; Balint, B; Willemsen, M; Adams, M; ... Bhatia, K; + view all (2016) De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions. Presented at: 20th International Congress of Parkinson's Disease and Movement Disorders, Berlin, GERMANY.

Paudel, R; Li, A; Hardy, J; Bhatia, KP; Houlden, H; Holton, J; (2016) DYT6 Dystonia: A Neuropathological Study. Neurodegenerative Diseases , 16 (3-4) pp. 273-278. 10.1159/000440863. Green open access
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Poole, OV; Fernandez-Vizarra, E; Turner, C; Clarke, B; Bugiardini, E; Barbosa, IA; Deshpande, C; ... Pitceathly, RDS; + view all (2016) TRIAP1 MUTATIONS ARE A CAUSE OF REVERSIBLE INFANTILE BULBAR FAILURE WITH SUBSEQUENT PROGRESSIVE ADOLESCENT ONSET MYOPATHY. Presented at: Annual Meeting of the Muscle-Study-Group on Models of Neuromuscular Disease scross the Lifespan, Snowbird, UT.

Rebelo, AP; Abrams, AJ; Cottenie, E; Horga, A; Gonzalez, M; Bis, DM; Sanchez-Mejias, A; ... Zuchner, S; + view all (2016) Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. The American Journal of Human Genetics , 98 (4) pp. 597-614. 10.1016/j.ajhg.2016.02.022. Green open access
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Rossor, AM; Morrow, JM; Polke, JM; Murphy, SM; Houlden, H; INC-RDCRC, ; Laura, M; ... Reilly, MM; + view all (2016) Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. Neuromuscular Disorders , 27 (1) pp. 50-56. 10.1016/j.nmd.2016.10.001. Green open access
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Rossor, AM; Rebelo, A; Abrams, AJ; Gonzalez, M; Bis, DM; Sanchez-Mejias, A; Pinto, M; ... Reilly, MM; + view all (2016) A MISSENSE MUTATION IN THE MITOCHONDRIAL ENCODED TRNA SERINE 2 (AGY): A POTENTIAL GENETIC MODIFIER IN CMT2. Presented at: Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Univ Glasgow, Glasgow, SCOTLAND.

Sailer, A; Scholz, SW; Nalls, MA; Schulte, C; Federoff, M; Price, TR; Lees, A; ... European Multiple System Atrophy Study Group and the UK Multiple, ; + view all (2016) A genome-wide association study in multiple system atrophy. Neurology , 87 (15) pp. 1591-1598. 10.1212/WNL.0000000000003221. Green open access
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Scalco, RS; Gardiner, AR; Pitceathly, RDS; Hilton-Jones, D; Schapira, AH; Turner, C; Parton, M; ... Quinlivan, R; + view all (2016) CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies. Neuromuscular Disorders , 26 (8) pp. 504-510. 10.1016/j.nmd.2016.05.006. Green open access
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Schottlaender, LV; Bettencourt, C; Kiely, AP; Chalasani, A; Neergheen, V; Holton, JL; Hargreaves, I; (2016) Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. PLoS One , 11 (2) , Article e0149557. 10.1371/journal.pone.0149557. Green open access
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Schreglmann, SR; Houlden, H; (2016) VPS13C - Another Hint at Mitochondrial Dysfunction in Familial Parkinson's Disease. Movement Disorders , 31 (9) p. 1340. 10.1002/mds.26682.

Schutz, PW; Scalco, R; Barresi, R; Houlden, H; Parton, M; Holton, JL; (2016) Focal, macrophage rich myopathy as a manifestation of calpain-3 mutations: are there modifiers of histological phenotype? Presented at: 117th Meeting of the British-Neuropathological-Society, London, ENGLAND.

Suetterlin, K; Sud, R; Burge, J; McCall, S; Fialho, D; Haworth, A; Sweeney, M; ... Mannikko, R; + view all (2016) FUNCTIONAL ANALYSIS OF CLC-1 VARIANTS INFORMS GENETIC COUNSELLING FOR MYOTONIA CONGENITA. Presented at: Annual Meeting of the Muscle-Study-Group on Models of Neuromuscular Disease scross the Lifespan, Snowbird, UT.

Tomaselli, PJ; Rossor, AM; Horga, A; Laura, M; Houlden, H; Reilly, MM; (2016) A COMPOUND HETEROZYGOUS MUTATION IN THE VACCINIA RELATED KINASE-1 GENE IS A CAUSE OF HEREDITARY MOTOR NEUROPATHY WITH UPPER MOTOR NEURON SIGNS. Presented at: Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Univ Glasgow, Glasgow, SCOTLAND.

Tuschl, K; Meyer, E; Valdivia, LE; Zhao, N; Dadswell, C; Abdul-Sada, A; Hung, CY; ... Wilson, SW; + view all (2016) Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nature Communications , 7 , Article 11601. 10.1038/ncomms11601. Green open access
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Wang, Y; Hersheson, J; Lopez, D; Hammer, M; Liu, Y; Lee, K-H; Pinto, V; ... Baudry, M; + view all (2016) Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell Reports , 16 (1) pp. 79-91. 10.1016/j.celrep.2016.05.044. Green open access
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Wiethoff, S; Hersheson, J; Bettencourt, C; Wood, NW; Houlden, H; (2016) Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations. Journal of Neurology , 263 (8) pp. 1503-1510. 10.1007/s00415-016-8148-6. Green open access
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Wigley, R; Scalco, RS; Gardiner, A; Booth, S; Chatfield, S; Godfrey, R; Kirk, R; ... Quinlivan, R; + view all (2016) Muscle b-enolase deficiency presenting with different kinetic profiles in muscle tissue. European Journal of Neurology , 23 (S2) p. 689. 10.1111/ene.13094. Green open access
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Woodside, J; Lamb, R; Chelban, V; Burn, D; Church, A; Gerhard, A; Hu, M; ... Houlden, H; + view all (2016) PROSPECT: A UK-based longitudinal observational study of PSP, CBD, MSA and atypical Parkinsonism syndromes. Presented at: 20th International Congress of Parkinson's Disease and Movement Disorders, Berlin, GERMANY.

Yaldizli, Ö; Sethi, V; Pardini, M; Tur, C; Mok, KY; Muhlert, N; Liu, Z; ... Chard, DT; + view all (2016) HLA-DRB∗1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis. Multiple Sclerosis and Related Disorders , 7 pp. 47-52. 10.1016/j.msard.2016.03.003. Green open access
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2015

Fratta, P; Polke, JM; Newcombe, J; Mizielinska, S; Lashley, T; Poulter, M; Beck, J; ... Fisher, EM; + view all (2015) Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiology of Aging , 36 (1) 546.e1-546.e7. 10.1016/j.neurobiolaging.2014.07.037. Green open access
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Gami, P; Murray, C; Schottlaender, L; Bettencourt, C; De Pablo Fernandez, E; Mudanohwo, E; Mizielinska, S; ... Lashley, T; + view all (2015) A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease. Acta Neuropathologica , 130 (4) pp. 599-601. 10.1007/s00401-015-1473-5. Green open access
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Gang, Q; Bettencourt, C; Machado, PM; Fox, Z; Brady, S; Healy, E; Parton, M; ... Muscle Study Group and the International IBM Genetics Consortium(#), ,; + view all (2015) The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiol Aging , 36 (4) 1766.e1 - 1766.e3. 10.1016/j.neurobiolaging.2014.12.039. Green open access
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Gardiner, AR; Jaffer, F; Dale, RC; Labrum, R; Erro, R; Meyer, E; Xiromerisiou, G; ... Houlden, H; + view all (2015) The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain , 138 (Pt 12) pp. 3567-3580. 10.1093/brain/awv310. Green open access
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Jaffer, F; Avbersek, A; Vavassori, R; Fons, C; Campistol, J; Stagnaro, M; De Grandis, E; ... Sisodiya, SM; + view all (2015) Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Brain , 138 (10) pp. 2859-2874. 10.1093/brain/awv243. Green open access
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Kiely, AP; Ling, H; Asi, YT; Kara, E; Proukakis, C; Schapira, AH; Morris, HR; ... Holton, JL; + view all (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration , 10 , Article 41. 10.1186/s13024-015-0038-3. Green open access
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Mencacci, NE; Erro, R; Wiethoff, S; Hersheson, J; Ryten, M; Balint, B; Ganos, C; ... Bhatia, KP; + view all (2015) ADCY5 mutations are another cause of benign hereditary chorea. Neurology , 85 (1) pp. 80-88. 10.1212/WNL.0000000000001720. Green open access
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Paudel, R; (2015) Genetic and neuropathological study of primary and secondary dystonic syndromes. Doctoral thesis , UCL (University College London). Green open access
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Scalco, RS; Gardiner, AR; Pitceathly, RD; Zanoteli, E; Becker, J; Holton, JL; Houlden, H; ... Quinlivan, R; + view all (2015) Rhabdomyolysis: a genetic perspective. Orphanet Journal of Rare Diseases , 10 , Article 51. 10.1186/s13023-015-0264-3. Green open access
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Schottlaender, LV; Polke, JM; Ling, H; MacDoanld, ND; Tucci, A; Nanji, T; Pittman, A; ... Houlden, H; + view all (2015) The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiol Aging , 36 (2) 1221.e1 - 1221.e6. 10.1016/j.neurobiolaging.2014.08.024. Green open access
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Sposito, T; Preza, E; Mahoney, CJ; Setó-Salvia, N; Ryan, NS; Morris, HR; Arber, C; ... Wray, S; + view all (2015) Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT. Human Molecular Genetics , 24 (18) pp. 5260-5269. 10.1093/hmg/ddv246. Green open access
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Wiethoff, S; Arber, C; Li, A; Wray, S; Houlden, H; Patani, R; (2015) Using human induced pluripotent stem cells to model cerebellar disease: Hope and hype. Journal of Neurogenetics , 29 (2-3) pp. 95-102. 10.3109/01677063.2015.1053478. Green open access
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2014

Asi, YT; Simpson, JE; Heath, PR; Wharton, SB; Lees, AJ; Revesz, T; Houlden, H; (2014) Alpha-synuclein mRNA expression in oligodendrocytes in MSA. Glia , 62 (6) pp. 964-970. 10.1002/glia.22653. Green open access
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Cottenie, E; Kochanski, A; Jordanova, A; Bansagi, B; Zimon, M; Horga, A; Jaunmuktane, Z; ... Houlden, H; + view all (2014) Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet , 95 (5) 590 - 601. 10.1016/j.ajhg.2014.10.002. Green open access
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Gang, Q; Bettencourt, C; Machado, P; Hanna, MG; Houlden, H; (2014) Sporadic inclusion body myositis: the genetic contributions to the pathogenesis. Orphanet J Rare Dis , 9 , Article 88. 10.1186/1750-1172-9-88. Green open access
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Horga, A; Pitceathly, RD; Blake, JC; Woodward, CE; Zapater, P; Fratter, C; Mudanohwo, EE; ... Reilly, MM; + view all (2014) Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. Brain , 137 (Pt 12) 3200 - 3212. 10.1093/brain/awu279. Green open access
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Ling, H; Kara, E; Revesz, T; Lees, AJ; Plant, GT; Martino, D; Houlden, H; ... Holton, JL; + view all (2014) Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathol Commun , 2 (1) , Article 24. 10.1186/2051-5960-2-24. Green open access
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Machado, PM; Ahmed, M; Brady, S; Gang, Q; Healy, E; Morrow, JM; Wallace, AC; ... Hanna, MG; + view all (2014) Ongoing developments in sporadic inclusion body myositis. Curr Rheumatol Rep , 16 (12) , Article 477. 10.1007/s11926-014-0477-9. Green open access
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Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; ... on behalf of the International Parkinson’s Disease Genomics Cons, ; + view all (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green open access
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Moss, DJH; Poulter, M; Beck, J; Hehir, J; Polke, JM; Campbell, T; Adamson, G; ... Tabrizi, SJ; + view all (2014) C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology , 82 (4) pp. 292-299. 10.1212/WNL.0000000000000061. Green open access
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Paudel, R; Kiely, A; Li, A; Lashley, T; Bandopadhyay, R; Hardy, J; Jinnah, HA; ... Holton, JL; + view all (2014) Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. Acta Neuropathol Commun , 2 (1) , Article 159. 10.1186/s40478-014-0159-x. Green open access
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Proukakis, C; Shoaee, M; Morris, J; Brier, T; Kara, E; Sheerin, UM; Charlesworth, G; ... Schapira, AH; + view all (2014) Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord , 29 (8) 060-1064. 10.1002/mds.25883. Green open access
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Stamelou, M; Charlesworth, G; Cordivari, C; Schneider, SA; Kägi, G; Sheerin, UM; Rubio-Agusti, I; ... Bhatia, KP; + view all (2014) The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord , 29 (7) pp. 928-934. 10.1002/mds.25802. Green open access
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Thomas, AC; Williams, H; Seto-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; ... Stanier, PM; + view all (2014) Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome. The American Journal of Human Genetics , 95 (5) pp. 611-621. 10.1016/j.ajhg.2014.10.007. Green open access
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Wiethoff, S; Xiromerisiou, G; Bettencourt, C; Kioumi, A; Tsiptsios, I; Tychalas, A; Evaggelia, M; ... Houlden, H; + view all (2014) Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis. Journal of the Neurological Sciences , 339 (1-2) pp. 220-222. 10.1016/j.jns.2014.01.034. Green open access
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2013

Alg, VS; Sofat, R; Houlden, H; Werring, DJ; (2013) Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals. Neurology , 80 (23) 2154 - 2165. 10.1212/WNL.0b013e318295d751. Green open access
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Asi, YT; Houlden, H; Lees, AJ; Revesz, T; Holton, JL; (2013) Regional expression of alpha-synuclein in multiple system atrophy. MOVEMENT DISORDERS , 28 S277-S277.

Bartolome, F; Wu, HC; Burchell, VS; Preza, E; Wray, S; Mahoney, CJ; Fox, NC; ... Plun-Favreau, H; + view all (2013) Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron , 78 (1) pp. 57-64. 10.1016/j.neuron.2013.02.028.

Bartolome, F; Wu, HC; Burchell, VS; Preza, E; Wray, S; Mahoney, CJ; Fox, NC; ... Plun-Favreau, H; + view all (2013) Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028. Green open access
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Beck, J; Poulter, M; Hensman, D; Rohrer, JD; Mahoney, CJ; Adamson, G; Campbell, T; ... Mead, S; + view all (2013) Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population. AMERICAN JOURNAL OF HUMAN GENETICS , 92 (3) pp. 345-353. 10.1016/j.ajhg.2013.01.011.

Beck, J; Poulter, M; Hensman, D; Rohrer, JD; Mahoney, CJ; Adamson, G; Campbell, T; ... Mead, S; + view all (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet , 92 (3) 345 - 353. 10.1016/j.ajhg.2013.01.011.

Bettencourt, C; Morris, HR; Singleton, AB; Hardy, J; Houlden, H; (2013) Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. JOURNAL OF NEUROLOGY , 260 (9) pp. 2414-2416. 10.1007/s00415-013-7044-6.

Bettencourt, C; Morris, HR; Singleton, AB; Hardy, J; Houlden, H; (2013) Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. Journal of Neurology , 260 (9) pp. 2414-2416. 10.1007/s00415-013-7044-6. Green open access
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Burchell, VS; Nelson, DE; Sanchez-Martinez, A; Delgado-Camprubi, M; Ivatt, RM; Pogson, JH; Randle, SJ; ... Plun-Favreau, H; + view all (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature Neuroscience , 16 (9) pp. 1257-1265. 10.1038/nn.3489. Green open access
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Cottenie, E; Menezes, MP; Rossor, AM; Morrow, JM; Yousry, TA; Dick, DJ; Anderson, JR; ... Reilly, MM; + view all (2013) Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. NEUROMUSCULAR DISORDERS , 23 (5) pp. 399-403. 10.1016/j.nmd.2013.01.010.

Cottenie, E; Menezes, MP; Rossor, AM; Morrow, JM; Yousry, TA; Dick, DJ; Anderson, JR; ... Reilly, MM; + view all (2013) Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscular Disorders , 23 (5) pp. 399-403. 10.1016/j.nmd.2013.01.010.

Cregg, R; Laguda, B; Werdehausen, R; Cox, JJ; Linley, JE; Ramirez, JD; Bodi, I; ... Kinali, M; + view all (2013) Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary Erythromelalgia. NEUROMOLECULAR MEDICINE , 15 (2) pp. 265-278. 10.1007/s12017-012-8216-8. Gold open access

Cregg, R; Laguda, B; Werdehausen, R; Cox, JJ; Linley, JE; Ramirez, JD; Bodi, I; ... Kinali, M; + view all (2013) Novel mutations mapping to the fourth sodium channel domain of nav1.7 result in variable clinical manifestations of primary erythromelalgia. NeuroMolecular Medicine , 15 (2) pp. 265-278. 10.1007/s12017-012-8216-8.

Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; Mehta, A; ... Foltynie, T; + view all (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders , 28 (2) 232 - 236. 10.1002/mds.25248. Green open access
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Fawcett, K; Mehrabian, M; Liu, Y-T; Hamed, S; Elahi, E; Revesz, T; Koutsis, G; ... Houlden, H; + view all (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. JOURNAL OF NEUROLOGY , 260 (3) pp. 856-859. 10.1007/s00415-012-6721-1.

Fawcett, K; Mehrabian, M; Liu, YT; Hamed, S; Elahi, E; Revesz, T; Koutsis, G; ... Houlden, H; + view all (2013) Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol , 260 (3) 860-. 10.1007/s00415-012-6791-0.

Fawcett, K; Mehrabian, M; Liu, YT; Hamed, S; Elahi, E; Revesz, T; Koutsis, G; ... Houlden, H; + view all (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. Journal of Neurology , 260 (3) pp. 856-859. 10.1007/s00415-012-6721-1.

Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; ... Houlden, H; + view all (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain , 137 (1) , Article awt315. 10.1093/brain/awt315. Green open access
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Gonzalez, M; McLaughlin, H; Houlden, H; Guo, M; Liu, YT; Hadjivassilious, M; Speziani, F; ... Züchner, S; + view all (2013) Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. Journal of Neurology, Neurosurgery and Psychiatry , 84 (11) pp. 1247-1249. 10.1136/jnnp-2013-305049.

Gonzalez, M; McLaughlin, H; Houlden, H; Guo, M; Yo-Tsen, L; Hadjivassilious, M; Speziani, F; ... Zuechner, S; + view all (2013) Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 84 (11) pp. 1247-1249. 10.1136/jnnp-2013-305049.

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, JD; Taipa, R; Lashley, T; ... Houlden, H; + view all (2013) Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene. JAMA NEUROLOGY , 70 (7) pp. 875-882. 10.1001/jamaneurol.2013.698.

Hammer, MB; Eleuch-Fayache, G; Schottlaender, LV; Nehdi, H; Gibbs, JR; Arepalli, SK; Chong, SB; ... Singleton, AB; + view all (2013) Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity. AMERICAN JOURNAL OF HUMAN GENETICS , 92 (2) pp. 245-251. 10.1016/j.ajhg.2012.12.012.

Hardy, J; (2013) Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. MOVEMENT DISORDERS , 28 (4) pp. 561-562. 10.1002/mds.25415.

Hayflick, SJ; Kruer, MC; Gregory, A; Haack, TB; Kurian, MA; Houlden, HH; Anderson, J; ... Hogarth, P; + view all (2013) Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. BRAIN , 136 pp. 1708-1717. 10.1093/brain/awt095.

Houlden, H; (2013) Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes. BRAIN , 136 pp. 692-693. 10.1093/brain/awt042.

Kalmar, B; Kolaszynska, AK; Rossor, AM; Houlden, H; Schiavo, G; Reilly, MM; Greensmith, L; (2013) AXONAL TRANSPORT DEFICITS AND INCREASED VULNERABILITY TO OXIDATIVE STRESS IN MUTANT HSPB1 (HSP27)-INDUCED DISTAL HEREDITARY MOTOR NEUROPATHIES. In: (Proceedings) Meeting of the Peripheral-Nerve-Society. (pp. p. 54). WILEY-BLACKWELL

Kara, E; Hardy, J; Houlden, H; (2013) The pallidopyramidal syndromes: nosology, aetiology and pathogenesis. CURRENT OPINION IN NEUROLOGY , 26 (4) pp. 381-394. 10.1097/WCO.0b013e3283632e83.

Kara, E; Hardy, J; Houlden, H; (2013) The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis. Current Opinion in Neurology , 26 (4) 381 - 394. 10.1097/WCO.0b013e3283632e83. Green open access
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Kara, E; Lewis, PA; Ling, H; Proukakis, C; Houlden, H; Hardy, J; (2013) α-Synuclein mutations cluster around a putative protein loop. Neuroscience Letters , 546 pp. 67-70. 10.1016/j.neulet.2013.04.058.

Kara, E; Lewis, PA; Ling, H; Proukakis, C; Houlden, H; Hardy, J; (2013) α-Synuclein mutations cluster around a putative protein loop. Neurosci Lett , 546 67 - 70. 10.1016/j.neulet.2013.04.058. Green open access
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Kara, E; Schottlaender, L; Berardo, A; Reisin, R; Hehir, J; Hughes, D; Paudel, R; ... Houlden, H; + view all (2013) SPG11 sequencing in worldwide populations of familial and sporadic spastic paraplegia patients reveals frequent mutations and the common association of parkinsonian features. MOVEMENT DISORDERS , 28 S397-S397.

Karadima, G; Koutsis, G; Floroskufi, P; Houlden, H; Panas, M; (2013) A study of hereditary motor and sensory neuropathies (Charcot-Marie-Tooth disease) in the Greek population. Archives of Hellenic Medicine , 30 (2) pp. 186-196. Gold open access

Karadima, G; Koutsis, G; Floroskufi, P; Houlden, H; Panas, M; (2013) A study of hereditary motor and sensory neuropathies (Charcot-Marie-Tooth disease) in the Greek population. Archives of Hellenic Medicine , 30 (2) pp. 186-196.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; ... Holton, JL; + view all (2013) Clinical and neuropathological features of synucleinopathy associated with G51D SNCA mutation. MOVEMENT DISORDERS , 28 S277-S277.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; ... Holton, JL; + view all (2013) α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green open access
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Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; ... Holton, JL; + view all (2013) Synucleinopathy with a G51D a-synuclein mutation: a neuropathological and genetic study. In: (Proceedings) 114th Meeting of the British-Neuropathological-Society / Symposium on Advances in Motor Neuron Diseases. (pp. pp. 39-40). WILEY-BLACKWELL

Kiely, AP; Asi, YT; Ling, H; Lees, AJ; Hardy, J; Revesz, T; Holton, JL; ... Quinn, N; + view all (2013) A-synucleinopathy associated with G51D SNCA mutation: A link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green open access
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Koutsis, G; Pandraud, A; Karadima, G; Panas, M; Reilly, MM; Floroskufi, P; Wood, NW; (2013) Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. CLINICAL GENETICS , 83 (4) pp. 388-391. 10.1111/j.1399-0004.2012.01910.x.

Koutsis, G; Pandraud, A; Karadima, G; Panas, M; Reilly, MM; Floroskufi, P; Wood, NW; (2013) Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. CLINICAL GENETICS , 83 (4) pp. 388-391. 10.1111/j.1399-0004.2012.01910.x.

Kruer, MC; Jepperson, T; Dutta, S; Steiner, RD; Cottenie, E; Sanford, L; Merkens, M; ... Houlden, H; + view all (2013) Mutations in gamma adducin are associated with inherited cerebral palsy. Ann Neurol , 74 (6) pp. 805-814. 10.1002/ana.23971. Green open access
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Laura, M; Murphy, SM; Hornemann, T; Skorupinska, M; Bull, K; Phadke, R; Lauria, G; ... Reilly, MM; + view all (2013) HEREDITARY SENSORY NEUROPATHY TYPE 1: A NATURAL HISTORY STUDY. In: (Proceedings) Meeting of the Peripheral-Nerve-Society. (pp. p. 62). WILEY-BLACKWELL

Li, A; Paudel, R; Johnson, R; Courtney, R; Lees, AJ; Holton, JL; Hardy, J; ... Houlden, H; + view all (2013) Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathology and Applied Neurobiology , 39 (2) pp. 121-131. 10.1111/j.1365-2990.2012.01269.x. Green open access
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Ling, H; Kara, E; Bandopadhyay, R; Hardy, J; Holton, J; Xiromerisiou, G; Lees, A; ... Revesz, T; + view all (2013) TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiol Aging , 34 (12) 2889.e5 - 2889.e9. 10.1016/j.neurobiolaging.2013.04.011. Green open access
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Ling, H; Kara, E; Bandopadhyay, R; Hardy, J; Holton, J; Xiromerisiou, G; Lees, A; ... Revesz, T; + view all (2013) TDP-43 pathology in a patient carrying G2019S LRRK2mutation and a novel p.Q124E MAPT. Neurobiology of Aging , 34 (12) 2889.e5-2889.e9. 10.1016/j.neurobiolaging.2013.04.011.

Liu, YT; Hersheson, J; Plagnol, V; Fawcett, K; Duberley, KE; Preza, E; Hargreaves, IP; ... Houlden, H; + view all (2013) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306483. Green open access
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McNeill, A; Wu, RM; Tzen, KY; Aguiar, PC; Arbelo, JM; Barone, P; Bhatia, K; ... Schapira, AH; + view all (2013) Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. PLOS ONE , 8 (7) , Article e69190. 10.1371/journal.pone.0069190. Green open access
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Mencacci, N; Pittman, A; Sheerin, U; Charlesworth, G; Hughes, D; Sweeney, M; Wood, N; ... Hardy, J; + view all (2013) A comprehensive diagnostic test for familial and early onset Parkinson's disease based on next-generation sequencing. MOVEMENT DISORDERS , 28 S408-S408.

Mencacci, N; Polke, J; Stamelou, M; Sidle, K; Batla, A; Sweeney, M; Houlden, H; ... Bhatia, K; + view all (2013) Is GCH1 a risk locus for Parkinson's disease? Evidence from a case report. MOVEMENT DISORDERS , 28 S406-S406.

Murphy, SM; Ernst, D; Wei, Y; Laurà, M; Liu, YT; Polke, J; Blake, J; ... Reilly, MM; + view all (2013) Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. Neurology , 80 (23) 2106 - 2111. 10.1212/WNL.0b013e318295d789. Green open access
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Nalini, A; Pandraud, A; Mok, K; Houlden, H; (2013) Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. JOURNAL OF THE NEUROLOGICAL SCIENCES , 334 (1-2) pp. 119-122. 10.1016/j.jns.2013.08.003.

Nalini, A; Pandraud, A; Mok, K; Houlden, H; (2013) Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. Journal of the Neurological Sciences , 334 (1-2) 119 - 122. 10.1016/j.jns.2013.08.003. Green open access
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Oates, EC; Rossor, AM; Hafezparast, M; Gonzalez, M; Speziani, F; MacArthur, DG; Lek, M; ... Reilly, MM; + view all (2013) Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. AMERICAN JOURNAL OF HUMAN GENETICS , 92 (6) pp. 965-973. 10.1016/j.ajhg.2013.04.018.

Pitceathly, RDS; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; ... Hanna, MG; + view all (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease (vol 3, pg 1795, 2013). CELL REPORTS , 4 (2) p. 402. 10.1016/j.celrep.2013.06.032. Gold open access

Pitceathly, RDS; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; ... Hanna, MG; + view all (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease. CELL REPORTS , 3 (6) pp. 1795-1805. 10.1016/j.celrep.2013.05.005.

Pitceathly, RDS; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; ... Hanna, MG; + view all (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease. Cell Reports , 3 (6) pp. 1795-1805. 10.1016/j.celrep.2013.05.005.

Proukakis, C; Dudzik, CG; Brier, T; MacKay, DS; Cooper, JM; Millhauser, GL; Houlden, H; (2013) A NOVEL alpha-SYNUCLEIN MISSENSE MUTATION IN PARKINSON DISEASE. NEUROLOGY , 80 (11) pp. 1062-1064. 10.1212/WNL.0b013e31828727ba.

Proukakis, C; Houlden, H; Schapira, AH; (2013) Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data. Movement Disorders , 28 (6) pp. 705-712. 10.1002/mds.25502.

Proukakis, C; Houlden, H; Schapira, AH; (2013) Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data. Movement Disorders 10.1002/mds.25502. Green open access
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Rossor, AM; Laura, M; Bull, K; Morrow, JM; Houlden, H; Reilly, MM; (2013) A CLINICAL AND GENETIC STUDY OF THE DISTAL HEREDITARY MOTOR NEUROPATHIES. In: (Proceedings) Meeting of the Peripheral-Nerve-Society. (pp. p. 96). WILEY-BLACKWELL

Rossor, AM; Oates, EC; Hafezparast, M; Cottenie, E; Houlden, H; Scoto, M; Foley, R; ... Reilly, MM; + view all (2013) A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA). In: (Proceedings) Meeting of the Peripheral-Nerve-Society. (pp. pp. 96-97). WILEY-BLACKWELL

Rossor, AM; Polke, JM; Houlden, H; Reilly, MM; (2013) Clinical implications of genetic advances in Charcot-Marie-Tooth disease. NATURE REVIEWS NEUROLOGY , 9 (10) pp. 562-571. 10.1038/nrneurol.2013.179.

Rossor, AM; Polke, JM; Houlden, H; Reilly, MM; (2013) Clinical implications of genetic advances in charcot-marie-tooth disease. Nature Reviews Neurology , 9 (10) pp. 562-571. 10.1038/nrneurol.2013.179.

Rossor, AM; Scoto, M; Harms, M; Baloh, R; Houlden, H; Sewry, C; Manzur, A; ... Reilly, MM; + view all (2013) THE PHENOTYPIC GENETIC SPECTRUM OF PATIENTS WITH MUTATIONS IN CYTOPLASMIC DYNEIN HEAVY CHAIN 1 (DYNC1H1). In: (Proceedings) Meeting of the Peripheral-Nerve-Society. (pp. p. 97). WILEY-BLACKWELL

Silveira-Moriyama, L; Gardiner, A; Meyer, E; King, MD; Smith, M; Rakshi, K; Parker, A; ... Kurian, MA; + view all (2013) PRRT2 related paroxysmal kinesigenic dyskinesia (PKD). MOVEMENT DISORDERS , 28 S331-S331.

Silveira-Moriyama, L; Gardiner, AR; Meyer, E; King, MD; Smith, M; Rakshi, K; Parker, A; ... Kurian, MA; + view all (2013) Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 55 (4) pp. 327-334. 10.1111/dmcn.12056.

Silveira-Moriyama, L; Gardiner, AR; Meyer, E; King, MD; Smith, M; Rakshi, K; Parker, A; ... Kurian, MA; + view all (2013) Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Developmental Medicine and Child Neurology , 55 (4) pp. 327-334. 10.1111/dmcn.12056.

Stamelou, M; Lai, SC; Aggarwal, A; Schneider, SA; Houlden, H; Yeh, T-H; Batla, A; ... Bhatia, KP; + view all (2013) Dystonic Opisthotonus: A "Red Flag" for Neurodegeneration With Brain Iron Accumulation Syndromes? MOVEMENT DISORDERS , 28 (10) pp. 1325-1329. 10.1002/mds.25490.

Stamelou, M; Schneider, SA; Batla, A; Bhatia, KP; Lai, SC; Yeh, T-H; Lu, C-S; ... Houlden, H; + view all (2013) Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? Movement Disorders , 28 (10) 1325 - 1329. 10.1002/mds.25490. Green open access
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Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; Paisan-Ruiz, C; ... Houlden, H; + view all (2013) KohlschutterTonz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. HUMAN MUTATION , 34 (2) pp. 296-300. 10.1002/humu.22241.

Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; Paisán-Ruiz, C; ... Houlden, H; + view all (2013) Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation , 34 (2) pp. 296-300. 10.1002/humu.22241.

Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; ... Houlden, H; + view all (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387. Green open access
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Xiromerisiou, G; Dardiotis, E; Tsironi, EE; Hadjigeorgiou, G; Ralli, S; Kara, E; Petalas, A; ... Houlden, H; + view all (2013) THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism & Related Disorders , 19 (3) 404 - 405. 10.1016/j.parkreldis.2012.08.015. Green open access
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2012

Ahmed, Z; Asi, YT; Sailer, A; Lees, AJ; Houlden, H; Revesz, T; Holton, JL; (2012) The neuropathology, pathophysiology and genetics of multiple system atrophy. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY , 38 (1) pp. 4-24. 10.1111/j.1365-2990.2011.01234.x.

Alg, VS; Sofat, R; Houlden, H; Grieve, J; Watkins, LD; Werring, DJ; (2012) Genetic association studies of intracranial aneurysms: systematic review and meta-analysis in over 106 000 individuals. INTERNATIONAL JOURNAL OF STROKE , 7 p. 8.

Cottenie, E; Laura, M; Hanna, M; Dick, D; Blake, J; Houlden, H; Reilly, MM; (2012) Genetic analysis of FIG4 in patients with CMT. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S18-S18). PERGAMON-ELSEVIER SCIENCE LTD

Dale, RC; Gardiner, A; Antony, J; Houlden, H; (2012) Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 54 (10) pp. 958-960. 10.1111/j.1469-8749.2012.04394.x.

Davidson, GL; Murphy, SM; Polke, JM; Laura, M; Salih, MAM; Muntoni, F; Blake, J; ... Reilly, MM; + view all (2012) Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. JOURNAL OF NEUROLOGY , 259 (8) pp. 1673-1685. 10.1007/s00415-011-6397-y.

Everett, CM; Kara, E; Maresh, KE; Houlden, H; (2012) Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. JOURNAL OF NEUROLOGY , 259 (12) pp. 2726-2728. 10.1007/s00415-012-6642-z.

Everett, CM; Kara, E; Maresh, KE; Houlden, H; (2012) Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. Journal of Neurology , 259 (12) pp. 2726-2728. 10.1007/s00415-012-6642-z.

Fawcett, KA; Murphy, SM; Polke, JM; Wray, S; Burchell, VS; Manji, H; Quinlivan, RM; ... Houlden, H; + view all (2012) Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 83 (12) pp. 1204-1209. 10.1136/jnnp-2012-303055.

Fawcett, KA; Murphy, SM; Polke, JM; Wray, S; Burchell, VS; Manji, H; Quinlivan, RM; ... Houlden, H; + view all (2012) Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. Journal of Neurology, Neurosurgery and Psychiatry , 83 (12) pp. 1204-1209. 10.1136/jnnp-2012-303055.

Foley, AR; Broomfield, AA; Pandraud, A; Johnson, JO; Singleton, AB; Hargreaves, IP; Land, JM; ... Muntoni, F; + view all (2012) High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S4-S4). PERGAMON-ELSEVIER SCIENCE LTD

Gardiner, A; Bhatia, KP; Stameou, M; Dale, RC; Kurian, M; Schneider, S; Wali, GM; ... Houlden, H; + view all (2012) Prrt2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. MOVEMENT DISORDERS , 27 S448-S448.

Gardiner, A; Jaffer, F; Pittman, A; Gibbons, V; Wood, N; Hanna, M; Houlden, H; (2012) Next Generation Sequencing of Ion Channels in Neurological disorders. In: (Proceedings) British Human Genetics Conference. (pp. S119-S119). BMJ PUBLISHING GROUP

Gardiner, A; Kullmann, D; Wood, N; Ptacek, L; Houlden, H; Hanna, M; (2012) Episodic muscle and brain channels: Analysis of the PRRT2 gene and screening of a muscle channel panel. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S17-S17). PERGAMON-ELSEVIER SCIENCE LTD

Gardiner, AR; Bhatia, KP; Stamelou, M; Dale, RC; Kurian, MA; Schneider, SA; Wali, GM; ... Houlden, H; + view all (2012) PRRT2 gene mutations From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. NEUROLOGY , 79 (21) pp. 2115-2121. 10.1212/WNL.0b013e3182752c5a.

Gibbons, V; Labrum, RW; Haworth, A; Sweeney, MG; Wood, NW; Houlden, H; Hanna, MG; (2012) Episodic ataxia type 2-mutation analysis and screening recommendations. In: (Proceedings) British Human Genetics Conference. (pp. S87-S87). BMJ PUBLISHING GROUP

Giunti, P; Houlden, H; Gardner-Thorpe, C; Worth, PF; Johnson, J; Hilton, DA; Revesz, T; ... Wood, NW; + view all (2012) Spinocerebellar ataxia type 11. In: UNSPECIFIED (pp. 521-534).

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, J; Taipa, R; Lashley, T; ... Houlden, H; + view all (2012) Genetic analysis of inherited leukodystrophies: genotype phenotype correlations in the CSF1R gene. In: (Proceedings) 8th International Conference on Frontotemporal Dementias. (pp. p. 9). KARGER

Guerrero-López, R; García-Ruiz, PJ; Giráldez, BG; Durán-Herrera, C; Querol-Pascual, MR; Ramírez-Moreno, JM; Más, S; (2012) A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. Mov Disord , 27 (14) pp. 1826-1827. 10.1002/mds.25114.

Haack, TB; Hogarth, P; Kruer, MC; Gregory, A; Wieland, T; Schwarzmayr, T; Graf, E; ... Hayflick, SJ; + view all (2012) Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA. AMERICAN JOURNAL OF HUMAN GENETICS , 91 (6) pp. 1144-1149. 10.1016/j.ajhg.2012.10.019.

Haack, TB; Hogarth, P; Kruer, MC; Gregory, A; Wieland, T; Schwarzmayr, T; Graf, E; ... Hayflick, SJ; + view all (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. American Journal of Human Genetics , 91 (6) pp. 1144-1149. 10.1016/j.ajhg.2012.10.019.

Hersheson, J; Haworth, A; Houlden, H; (2012) The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. HUMAN MUTATION , 33 (9) pp. 1324-1332. 10.1002/humu.22132.

Hersheson, J; Hersheson, J; Pittman, A; Houlden, H; (2012) Developing a NGS screening panel for dominant cerebellar ataxia. In: (Proceedings) British Human Genetics Conference. (pp. S120-S120). BMJ PUBLISHING GROUP

Hersheson, J; Pittman, A; Houlden, H; (2012) Piloting targeted next-generation sequencing for screening the known ataxia genes: The next step for all diagnostic laboratories. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S456-S457). WILEY-BLACKWELL

Hersheson, JS; Mencacci, NE; Giunti, P; Wood, N; Houlden, H; (2012) Screening a UK cohort for spinocerebellar ataxia type 36 (SCA36). In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S183-S183). WILEY-BLACKWELL

Houlden, H; (2012) Sniffing out the cerebellum. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 83 (10) pp. 952-953. 10.1136/jnnp-2012-303136.

Houlden, H; (2012) A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. JOURNAL OF HUMAN GENETICS , 57 (9) p. 555. 10.1038/jhg.2012.88.

Houlden, H; (2012) Extending the clinical spectrum of pain channelopathies. BRAIN , 135 pp. 313-316. 10.1093/brain/aws007.

Houlden, H; Singleton, AB; (2012) The genetics and neuropathology of Parkinson's disease. ACTA NEUROPATHOLOGICA , 124 (3) pp. 325-338. 10.1007/s00401-012-1013-5.

Jaffer, F; Graves, T; Gibbons, V; Gardiner, A; Hersheson, J; Hanna, M; Houlden, H; (2012) Episodic ataxia: screening candidate genes and genetic analysis of families. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S17-S17). PERGAMON-ELSEVIER SCIENCE LTD

Johnson, JO; Gibbs, JR; Megarbane, A; Urtizberea, JA; Hernandez, DG; Foley, AR; Arepalli, S; ... Singleton, AB; + view all (2012) Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. BRAIN , 135 pp. 2875-2882. 10.1093/brain/aws161.

Kara, E; Ling, H; Pittman, AM; Shaw, K; de Silva, R; Simone, R; Holton, JL; ... Revesz, T; + view all (2012) The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobioly of Aging , 33 (9) 2231.e7 - 2231.e14. 10.1016/j.neurobiolaging.2012.04.006. Green open access
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Kara, E; Xiromerisiou, G; Paudel, R; Revesz, T; Holton, J; Lees, A; Wood, N; ... Houlden, H; + view all (2012) Comprehensive genetic investigation of NBIA and complex dystonia-parkinsonism. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S459-S459). WILEY-BLACKWELL

Kojovic, M; Sheerin, U; Rubio-Agusti, I; Bras, J; Wood, N; Houlden, H; Hardy, J; (2012) Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan. In: (Proceedings) 64th Annual Meeting of the American-Academy-of-Neurology (AAN). LIPPINCOTT WILLIAMS & WILKINS

Kojovic, M; Sheerin, UM; Rubio-Agusti, I; Saha, A; Bras, J; Gibbons, V; Palmer, R; ... Bhatia, KP; + view all (2012) Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Mov Disord , 27 (14) pp. 1829-1830. 10.1002/mds.25199. Green open access
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Koutsis, G; Karadima, G; Pandraud, A; Sweeney, MG; Paudel, R; Houlden, H; Wood, NW; (2012) Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion. JOURNAL OF NEUROLOGY , 259 (9) pp. 1874-1878. 10.1007/s00415-012-6430-9.

Koutsis, G; Mok, K; Schottlaender, L; Polke, J; Panas, M; Houlden, H; (2012) High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. In: (Proceedings) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS). (pp. p. 726). WILEY-BLACKWELL

Koutsis, G; Pandraud, A; Karadima, G; Panas, M; Floroskoufi, P; Wood, NW; Houlden, H; (2012) Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. In: (Proceedings) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS). (pp. p. 729). WILEY-BLACKWELL

Koutsis, G; Pandraud, A; Polke, JM; Wood, NW; Panas, M; Karadima, G; Houlden, H; (2012) Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease. BRAIN , 135 (ARTN e21) 10.1093/brain/aws034.

Koutsis, G; Pemble, S; Sweeney, MG; Paudel, R; Wood, NW; Panas, M; Kladi, A; (2012) Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. In: (Proceedings) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS). (pp. p. 731). WILEY-BLACKWELL

Koutsis, G; Pemble, S; Sweeney, MG; Paudel, R; Wood, NW; Panas, M; Kladi, A; (2012) Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. JOURNAL OF THE NEUROLOGICAL SCIENCES , 318 (1-2) pp. 178-180. 10.1016/j.jns.2012.03.019.

Kruer, M; Jepperson, T; Steiner, R; Russman, B; Blasco, P; Fan, G; Pollock, J; ... Houlden, H; + view all (2012) Mutations in ADD3 Lead to Inherited Forms of Spastic Diplegia and Spastic Quadriplegia. In: (Proceedings) 137th Annual Meeting of the American-Neurological-Association (ANA). (pp. S218-S218). WILEY-BLACKWELL

Kruer, MC; Boddaert, N; Schneider, SA; Houlden, H; Bhatia, KP; Gregory, A; Anderson, JC; ...