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Number of items: 470.

2019

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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2018

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.

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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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

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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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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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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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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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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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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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.

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, 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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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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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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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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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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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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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.

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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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

(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.

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

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.

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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.

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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.

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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.

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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

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Murphy, SM; Davidson, GL; Brandner, S; Houlden, H; Reilly, MM; (2012) Mutation in FAM134B causing severe hereditary sensory neuropathy. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 83 (1) pp. 119-120. 10.1136/jnnp.2010.228965.

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Murphy, SM; Laura, M; Ernst, D; Liu, Y-T; Blake, J; Donaghy, M; Winer, J; ... Reilly, MM; + view all (2012) Clinical and genetic characterisation of hereditary sensory neuropathy type 1 caused by mutations in SPTLC2. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S19-S19). PERGAMON-ELSEVIER SCIENCE LTD

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Pandraud, A; Clayton, P; Foley, AR; Muntoni, F; Johnson, JO; Singleton, AB; Reilly, MM; (2012) INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S18-S18.

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Paudel, R; Hardy, J; Revesz, T; Holton, JL; Houlden, H; (2012) Review: Genetics and neuropathology of primary pure dystonia. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY , 38 (6) pp. 520-534. 10.1111/j.1365-2990.2012.01298.x.

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Pitceathly, RDS; Murphy, SM; Cottenie, E; Chalasani, A; Sweeney, MG; Woodward, C; Mudanohwo, EE; ... Hanna, MG; + view all (2012) Genetic dysfunction of MT-ATP6 can cause axonal Charcot-Marie-Tooth disease. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S20-S20). PERGAMON-ELSEVIER SCIENCE LTD

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Polke, J; Mencacci, N; Stamelou, M; Sweeney, MG; Manji, H; Wood, NW; Bhatia, KP; (2012) Transcript analysis of a variably-penetrant GTP cyclohydrolase intronic splicing mutation. In: (Proceedings) British Human Genetics Conference. (pp. S92-S92). BMJ PUBLISHING GROUP

Polke, J; Mok, K; Poulter, M; Lashley, T; Beck, J; Wood, NW; Hardy, J; ... Houlden, H; + view all (2012) Diagnostic testing for the frontotemporal dementia/amyotrophic lateral sclerosis (GGGGCC)n expansion in C9orf72. In: (Proceedings) British Human Genetics Conference. (pp. S122-S122). BMJ PUBLISHING GROUP

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Rossor, AM; Davidson, G; Houlden, HH; Kalmar, B; Greensmith, L; Reilly, MM; (2012) A novel p.glu175x premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S21-S21). PERGAMON-ELSEVIER SCIENCE LTD

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Sailer, A; Houlden, H; (2012) Recent Advances in the Genetics of Cerebellar Ataxias. CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS , 12 (3) pp. 227-236. 10.1007/s11910-012-0267-6.

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Stamelou, M; Mencacci, NE; Cordivari, C; Batla, A; Wood, NW; Houlden, H; Hardy, J; (2012) Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. NEUROLOGY , 79 (5) pp. 435-441. 10.1212/WNL.0b013e318261714a. Gold open access

Voermans, NC; Kleefstra, T; Gabreels-Festen, AA; Faas, BHW; Kamsteeg, E-J; Houlden, H; Laura, M; ... Reilly, MM; + view all (2012) Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , 17 (2) pp. 223-225. 10.1111/j.1529-8027.2012.00402.x.

Woodward, C; Sweeney, MG; Pitceathly, RDS; Mudanohwo, EE; Hughes, D; Pittman, A; Houlden, H; ... Hanna, MG; + view all (2012) Next Generation Sequencing as a potential diagnostic tool for mitochondrial DNA diseases. In: (Proceedings) British Human Genetics Conference. (pp. S116-S116). BMJ PUBLISHING GROUP

Wray, S; Murray, H; Preza, E; Drummond, NJ; Devine, MJ; Isaacs, A; Houlden, H; ... Kunath, T; + view all (2012) Human Stem Cell Models of Frontotemporal Dementia Caused by a Non-Coding Hexanucleotide Repeat Expansion in C9orf72. In: (Proceedings) 8th International Conference on Frontotemporal Dementias. (pp. pp. 60-61). KARGER

Wray, S; Self, M; NINDS Parkinson's Disease iPSC Consortium, ; NINDS Huntington's Disease iPSC Consortium, ; NINDS ALS iPSC Consortium, ; Lewis, PA; Taanman, JW; ... Hardy, J; + view all (2012) Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLOS One , 7 (8) , Article e43099. 10.1371/journal.pone.0043099. Green open access
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Xiromerisiou, G; Houlden, H; Sailer, A; Silveira-Moriyama, L; Hardy, J; Lees, AJ; (2012) Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. MOVEMENT DISORDERS , 27 (10) pp. 1323-1324. 10.1002/mds.24924.

Xiromerisiou, G; Houlden, H; Scarmeas, N; Stamelou, M; Kara, E; Hardy, J; Lees, A; ... Bhatia, K; + view all (2012) THAP1 mutations and dystonia phenotypes: A metanalysis, genotype phenotype correlations and identification of novel mutations. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S370-S370). WILEY-BLACKWELL

Xiromerisiou, G; Houlden, H; Scarmeas, N; Stamelou, M; Kara, E; Hardy, J; Lees, AJ; ... Bhatia, KP; + view all (2012) THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations. MOVEMENT DISORDERS , 27 (10) pp. 1290-1294. 10.1002/mds.25146.

Xiromerisiou, G; Houlden, H; Scarmeas, N; Stamelou, M; Kara, E; Hardy, J; Lees, AJ; ... Bhatia, KP; + view all (2012) THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations. Movement Disorders , 27 (10) pp. 1290-1294. 10.1002/mds.25146.

Xiromerisiou, G; Kara, E; Houlden, H; Tsironi, E; Dardiotis, E; Dardioti, M; Hadjigeorgiou, G; (2012) Identification of novel THAP1 sequence variants in patients with blepharospam. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S473-S473). WILEY-BLACKWELL

2011

Brooks, JA; Houlden, H; Melchers, A; Islam, AJ; Ding, J; Li, A; Paudel, R; ... Scholz, SW; + view all (2011) Mutational analysis of parkin and PINK1 in multiple system atrophy. Neurobiology of Aging , 32 (3) 548.e5-548.e7. 10.1016/j.neurobiolaging.2009.11.020.

Brooks, JA; Houlden, H; Melchers, A; Islam, AJ; Ding, JH; Li, A; Paudel, R; ... Scholz, SW; + view all (2011) Mutational analysis of parkin and PINK1 in multiple system atrophy. NEUROBIOL AGING , 32 (3) , Article 548.e5. 10.1016/j.neurobiolaging.2009.11.020.

Carvalho, OP; Thornton, GK; Hertecant, J; Houlden, H; Nicholas, AK; Cox, JJ; Rielly, M; ... Woods, CG; + view all (2011) A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J MED GENET , 48 (2) 131 - 135. 10.1136/jmg.2010.081455.

Cleeter, M; Houlden, H; Simons, P; Al-Shawi, R; Stevanin, G; Durr, A; Hsuan, J; (2011) Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia. AMYOTROPH LATERAL SC , 12 (2) 148 - 149. 10.3109/17482968.2010.543689.

Devine, MJ; Ryten, M; Vodicka, P; Thomson, AJ; Burdon, T; Houlden, H; Cavaleri, F; ... Kunath, T; + view all (2011) Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. NAT COMMUN , 2 , Article 440. 10.1038/ncomms1453. Gold open access

Fawcett, K; Murphy, SM; Polke, J; Reilly, MM; Houlden, H; (2011) TRPV4 mutations and functional characterisation in a cohort of patients with hereditary neuropathy. In: NEUROMUSCULAR DISORDERS. (pp. S16 - S16). PERGAMON-ELSEVIER SCIENCE LTD

Fawcett, K; Murphy, SM; Reilly, MM; Houlden, H; (2011) TRPV4 MUTATIONS AND FUNCTIONAL CHARACTERISATION IN A COHORT OF PATIENTS WITH HEREDITARY NEUROPATHY. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S36 - S36). WILEY-BLACKWELL

Gwinn, K; Devine, MJ; Jin, LW; Johnson, J; Bird, T; Muenter, M; Waters, C; ... Singleton, A; + view all (2011) Clinical Features, with Video Documentation, of the Original Familial Lewy Body Parkinsonism Caused By alpha-Synuclein Triplication (Iowa Kindred). MOVEMENT DISORD , 26 (11) 2134 - 2136. 10.1002/mds.23776.

Haworth, A; Bertram, L; Carrera, P; Elson, JL; Braastad, CD; Cox, DW; Cruts, M; ... Sobrido, MJ; + view all (2011) Call for participation in the neurogenetics consortium within the Human Variome Project. NEUROGENETICS , 12 (3) 169 - 173. 10.1007/s10048-011-0287-4.

Hutton, EJ; Carty, L; Laura, M; Houlden, H; Lunn, MPT; Brandner, S; Mirsky, R; ... Reilly, MM; + view all (2011) c-Jun expression in human neuropathies: a pilot study. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , 16 (4) pp. 295-303. 10.1111/j.1529-8027.2011.00360.x.

Innes, A; Kalmar, B; Houlden, H; Reilly, MM; Greensmith, L; (2011) Characterisation of novel mutations within heat shock protein 27 causing motor axonopathies. In: NEUROMUSCULAR DISORDERS. (pp. S3 - S3). PERGAMON-ELSEVIER SCIENCE LTD

Kalmar, B; Innes, A; Rossor, AM; Houlden, H; Schiavo, G; Reilly, MM; Greensmith, L; (2011) ASSESSMENT OF FUNCTIONAL IMPAIRMENTS IN CELLULAR MODELS OF MUTANT HSPB1 INDUCED NEUROPATHIES. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S62 - S63). WILEY-BLACKWELL

Kojovic, M; Sheerin, UM; Wood, N; Houlden, H; Hardy, J; Bhatia, KP; (2011) Young onset parkinsonism due to alpha synuclein gene multiplication in a consanguineous family - A case report. In: (Proceedings) 15th International Congress of Parkinsons Disease and Movement Disorders. (pp. S310-S311). WILEY-BLACKWELL

Kruer, MC; Steiner, RD; Merkens, M; Blasco, PA; Phelps, R; Fan, GA; Houlden, H; (2011) Phenotypic Characterization and Autozygosity Mapping of a Novel Locus for Complicated Hereditary Spastic Paraplegia. In: NEUROLOGY. (pp. A89 - A89). LIPPINCOTT WILLIAMS & WILKINS

Laura, M; Eichler, FS; Hornemann, T; Polke, J; Davis, M; Bull, K; Houlden, H; (2011) HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1: CORRELATION OF SEVERITY AND PLASMA ATYPICAL DEOXY-SPHYNGOID BASES. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S72 - S73). WILEY-BLACKWELL

Liu, YT; Murphy, SM; Houlden, H; Reilly, MM; (2011) Neurofilament light chain polypeptide gene (NEFL) mutations in autosomal dominant or sporadic Charcot-Marie-Tooth disease. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17). PERGAMON-ELSEVIER SCIENCE LTD

Murphy, SM; Davidson, GL; Laura, M; Salih, M; Muntoni, F; Lunn, M; Blake, J; ... Reilly, MM; + view all (2011) Genetic mutation frequency in patients with hereditary sensory and autonomic neuropathies (HSAN). In: NEUROMUSCULAR DISORDERS. (pp. S17 - S18). PERGAMON-ELSEVIER SCIENCE LTD

Murphy, SM; Davidson, GL; Laura, M; Salih, MAM; Muntoni, F; Lunn, MP; Blake, J; ... Reilly, MM; + view all (2011) GENETIC MUTATION FREQUENCY IN PATIENTS WITH HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES (HSAN). In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S93 - S93). WILEY-BLACKWELL

Murphy, SM; Polke, J; Manji, H; Blake, J; Reiniger, L; Sweeney, M; Houlden, H; ... Reilly, MM; + view all (2011) A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. J PERIPHER NERV SYST , 16 (1) 65 - 70. 10.1111/j.1529-8027.2011.00321.x.

Murphy, SM; Siskind, C; Ovens, R; Polke, J; Laura, M; Houlden, H; Murphy, RPJ; ... Reilly, MM; + view all (2011) X-inactivation pattern in females with CMTX1. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S18). PERGAMON-ELSEVIER SCIENCE LTD

Murphy, SM; Siskind, CE; Ovens, R; Polke, J; Laura, M; Houlden, H; Murphy, RPJ; ... Reilly, MM; + view all (2011) X-INACTIVATION PATTERN IN FEMALES WITH CMTX1. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S94 - S94). WILEY-BLACKWELL

Pandraud, A; Murphy, SM; Laura, M; Reilly, MM; Houlden, H; (2011) Genetic modifying factors for the common form of CMT1A due to the chromosome 17 duplication and other causes of CMT1 in non-CMT1A patients. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S18). PERGAMON-ELSEVIER SCIENCE LTD

Polke, JM; Laura, M; Pareyson, D; Taroni, F; Milani, M; Bergamin, G; Gibbons, VS; ... Reilly, MM; + view all (2011) Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. NEUROLOGY , 77 (2) 168 - 173. 10.1212/WNL.0b013e3182242d4d.

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2011) Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. J NEUROL SCI , 306 (1-2) 62 - 65. 10.1016/j.jns.2011.03.043.

Rajakulendran, S; Paisan-Ruiz, C; Houlden, H; (2011) Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11. J CLIN NEUROL , 7 (2) 102 - 104. 10.3988/jcn.2011.7.2.102. Gold open access

Riviere, JB; Ramalingam, S; Lavastre, V; Shekarabi, M; Holbert, S; Lafontaine, J; Srour, M; ... Rouleau, GA; + view all (2011) KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2. AM J HUM GENET , 89 (2) 219 - 230. 10.1016/j.ajhg.2011.06.013.

Rossor, A; Houlden, H; Reilly, MM; (2011) A clinical study of the hereditary neuropathies due to mutations in the small heat shock proteins. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S19). PERGAMON-ELSEVIER SCIENCE LTD

Russo, M; Laura, M; Polke, JM; Davis, MB; Blake, J; Brandner, S; Hughes, RAC; ... Reilly, MM; + view all (2011) Variable phenotypes are associated with PMP22 missense mutations. NEUROMUSCULAR DISORD , 21 (2) 106 - 114. 10.1016/j.nmd.2010.11.011.

Sailer, A; Scholz, SW; Gibbs, JR; Johnson, JO; Wood, NW; Hernandez, D; Hardy, J; ... Houlden, H; + view all (2011) EXOME SEQUENCING AS A RAPID AND COST EFFICIENT DIAGNOSTIC METHOD IN NEUROGENETIC DISORDERS. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 552 - 552). WILEY-BLACKWELL

2010

Aggarwal, A; Schneider, SA; Houlden, H; Silverdale, M; Paudel, R; Paisan-Ruiz, C; Desai, S; ... Bhatt, M; + view all (2010) Indian-Subcontinent NBIA: Unusual Phenotypes, Novel PANK2 Mutations, and Undetermined Genetic Forms. MOVEMENT DISORD , 25 (10) 1424 - 1431. 10.1002/mds.23095.

Ahmed, Z; Tabrizi, S; Li, A; Houlden, H; Sailer, A; Lees, AJ; Revesz, T; (2010) A case of Huntington's disease phenocopy characterised by pallido-nigro-luysian degeneration with brain-iron accumulation and p62-positive glial inclusions. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 379 - 379). WILEY-BLACKWELL

Ahmed, Z; Tabrizi, SJ; Li, A; Houlden, H; Sailer, A; Lees, AJ; Revesz, T; (2010) A Huntington's disease phenocopy characterized by pallido-nigro-luysian degeneration with brain iron accumulation and p62-positive glial inclusions. NEUROPATH APPL NEURO , 36 (6) 551 - 557. 10.1111/j.1365-2990.2010.01093.x.

Dale, RC; Melchers, A; Fung, VSC; Grattan-Smith, P; Houlden, H; Earl, J; (2010) Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. DEV MED CHILD NEUROL , 52 (6) 583 - 586. 10.1111/j.1469-8749.2010.03619.x.

Davidson, G; Murphy, SM; Polke, JM; Davis, MB; Reilly, M; Houlden, H; MRC Ctr Neuromuscular Dis, ; (2010) Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations. In: NEUROMUSCULAR DISORDERS. (pp. S22 - S22). PERGAMON-ELSEVIER SCIENCE LTD

Dick, KJ; Eckhardt, M; Paisan-Ruiz, C; Alshehhi, AA; Proukakis, C; Sibtain, NA; Maier, H; ... Crosby, AH; + view all (2010) Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35). HUM MUTAT , 31 (4) E1251 - E1260. 10.1002/humu.21205.

Green, P; Wiseman, M; Crow, YJ; Houlden, H; Riphagen, S; Lin, JP; Raymond, FL; ... Josifova, DJ; + view all (2010) Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54. AM J HUM GENET , 86 (3) 485 - 489. 10.1016/j.ajhg.2010.02.006.

Houlden, H; Schneider, SA; Paudel, R; Melchers, A; Schwingenschuh, P; Edwards, M; Hardy, J; (2010) THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. NEUROLOGY , 74 (10) 846 - 850.

Houlden, HP; Favaregh., AL; Hemsch, MJ; (2010) Quantification of the uncertainties for the Ares I A106 ascent aerodynamic database. 27th AIAA Aerodynamic Measurement Technology and Ground Testing Conference 2010

Hutton, EJ; Carty, L; Laura, M; Houlden, H; Lunn, MP; Brandner, S; Mirsky, R; ... Reilly, MM; + view all (2010) C-Jun expression in human neuropathies: a pilot study. In: NEUROMUSCULAR DISORDERS. (pp. S22 - S22). PERGAMON-ELSEVIER SCIENCE LTD

Innes, A; Kalmar, B; Houlden, H; Reilly, MM; Greensmith, L; (2010) Characterisation of novel mutations within HSP27 causing Charcot-Marie-Tooth disease 2F and distal hereditary motor neuropathy II. In: NEUROMUSCULAR DISORDERS. (pp. S21 - S22). PERGAMON-ELSEVIER SCIENCE LTD

Johnson, JO; Gibbs, JR; Van Maldergem, L; Houlden, H; Singleton, AB; (2010) Exome Sequencing in Brown-Vialetto-Van Laere Syndrome. AM J HUM GENET , 87 (4) 567 - 569. 10.1016/j.ajhg.2010.05.021.

Kruer, MC; Paisan-Ruiz, C; Boddaert, N; Yoon, MY; Hama, H; Gregory, A; Malandrini, A; ... Hayflick, SJ; + view all (2010) Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA). ANN NEUROL , 68 (5) 611 - 618. 10.1002/ana.22122.

Kruer, MC; Paisan-Ruiz, C; Yoon, MY; Gregory, A; Woltjer, RL; Malandrini, A; Polster, BJ; ... Hayflick, SJ; + view all (2010) Defective Fatty Acid Hydroxylase Leads to a Novel Subtype of Neurodegeneration with Brain Iron Accumulation (NBIA). In: (Proceedings) 39th Annual Meeting of the Child-Neurology-Society. (pp. S30-S31). WILEY-LISS

Kruer, MC; Paisan-Ruiz, C; Yoon, MY; Hama, H; Gregory, A; Malandrini, A; Woltjer, RL; ... Hayflick, SJ; + view all (2010) Mutation in FA2H leads to Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN). In: (Proceedings) 39th Annual Meeting of the Child-Neurology-Society. (pp. S91-S91). WILEY-LISS

Landoure, G; Zdebik, AA; Martinez, TL; Burnett, BG; Stanescu, HC; Inada, H; Shi, YJ; ... Sumner, CJ; + view all (2010) Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. NAT GENET , 42 (2) 170 - U109. 10.1038/ng.512. Gold open access

Luigetti, M; Pizzuti, A; Bartoletti, S; Houlden, H; Pirro, C; Bottillo, I; Madia, F; ... Sabatelli, M; + view all (2010) Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. J NEUROL SCI , 290 (1-2) 150 - 152. 10.1016/j.jns.2009.12.005.

Murphy, S; Brandner, S; Polke, J; Manji, H; Houlden, H; Reilly, MM; (2010) A NOVEL MUTATION IN THE NERVE-SPECIFIC 5 '-UTR OF THE CX32 GENE CAUSING CMTX1. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 81 (11) E50 - E50. 10.1136/jnnp.2010.226340.133.

Murphy, SM; Polke, JM; Manji, H; Brandner, S; Houlden, H; Reilly, MM; (2010) A novel mutation in the nerve-specific 5 ' UTR of the Cx32 gene causing CMTX1. In: NEUROMUSCULAR DISORDERS. (pp. S20 - S21). PERGAMON-ELSEVIER SCIENCE LTD

Novak, M; Davis, M; Li, A; Goold, R; Tabrizi, SJ; Sweeney, MG; Houlden, H; ... Giunti, P; + view all (2010) ITPR1 GENE DELETION CAUSES SPINOCEREBELLAR ATAXIA 15/16: A GENETIC, CLINICAL AND RADIOLOGICAL DESCRIPTION OF A NOVEL KINDRED. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 81 (11) E32 - E32. 10.1136/jnnp.2010.226340.60.

Novak, MJU; Sweeney, MG; Li, A; Treacy, C; Chandrashekar, HS; Giunti, P; Goold, RG; ... Tabrizi, SJ; + view all (2010) An ITPR1 Gene Deletion Causes Spinocerebellar Ataxia 15/16: A Genetic, Clinical and Radiological Description. MOVEMENT DISORD , 25 (13) 2176 - 2182. 10.1002/mds.23223.

Paisan-Ruiz, C; Guevara, R; Federoff, M; Hanagasi, H; Sina, F; Elahi, E; Schneider, SA; ... Houlden, H; + view all (2010) Early-Onset L-dopa-Responsive Parkinsonism with Pyramidal Signs Due to ATP13A2, PLA2G6, FBXO7 and Spatacsin Mutations. MOVEMENT DISORD , 25 (12) 1791 - 1800. 10.1002/mds.23221.

Paisan-Ruiz, C; Houlden, H; (2010) Common pathogenic pathways in melanoma and Parkinson disease. NEUROLOGY , 75 (18) 1653 - 1655.

Paisán-Ruiz, C; Guevara, R; Federoff, M; Hanagasi, H; Sina, F; Elahi, E; Schneider, SA; ... Houlden, H; + view all (2010) Early-onset L-dopa-responsive Parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and Spatacsin mutations. Movement Disorders , 25 (12) pp. 1791-1800. 10.1002/mds.23221.

Penno, A; Reilly, MM; Houlden, H; Laura, M; Rentsch, K; Niederkofler, V; Stoeckli, ET; ... Hornemann, T; + view all (2010) Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids. J BIOL CHEM , 285 (15) 11178 - 11187. 10.1074/jbc.M109.092973. Gold open access

Russo, M; Laura, M; Polke, J; Davis, MB; Blake, J; Bradner, S; Hughes, RA; ... Reilly, M; + view all (2010) Variable phenotypes are associated with pmp22 missense mutations. In: JOURNAL OF NEUROLOGY. (pp. S40 - S40). SPRINGER HEIDELBERG

Russou, M;