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Number of items: 487.

2015

Arber, C; Li, A; Houlden, H; Wray, S; (2015) Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. Neuropathol Appl Neurobiol 10.1111/nan.12242.

Baets, J; Duan, X; Wu, Y; Smith, G; Seeley, WW; Mademan, I; McGrath, NM; (2015) Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain , 138 (Pt 4) 845 - 861. 10.1093/brain/awv010.

Brady, S; Healy, EG; Gang, Q; White, B; Jacob, S; Houlden, H; Holton, JL; (2015) Pathological evaluation of myopathies with tubular aggregates and cylindrical spirals. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 45 - 46).

Ernst, D; Murphy, SM; Sathiyanadan, K; Wei, Y; Othman, A; Laurá, M; Liu, YT; (2015) Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. Neuromolecular Med , 17 (1) 47 - 57. 10.1007/s12017-014-8339-1.

Ernst, D; Wei, Y; Othman, A; Hornemann, T; Murphy, SM; Blake, J; Donaghy, M; (2015) Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity. NeuroMolecular Medicine , 17 (1) 47 - 57. 10.1007/s12017-014-8339-1.

Erro, R; Hersheson, J; Houlden, H; Bhatia, KP; (2015) A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited. Brain 10.1093/brain/awu403.

Federoff, M; Schottlaender, LV; Houlden, H; Singleton, A; (2015) Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res , 25 (1) 19 - 36. 10.1007/s10286-014-0267-5.

Fratta, P; Mizielinska, S; Poulter, M; Beck, J; Devoy, A; Collins, T; Adamson, G; (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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Fratta, P; Polke, JM; Newcombe, J; Mizielinska, S; Lashley, T; Poulter, M; Beck, J; (2015) Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging , 36 (1) 546.e1 - 546.e7. 10.1016/j.neurobiolaging.2014.07.037.

Gami, P; Murray, C; Schottlaender, L; Bettencourt, C; Mudanohwo, E; Polke, J; Revesz, T; (2015) Comparative clinical, genetic and pathological study of C9orf72 expansion repeat cases. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 25 - 26).

Gang, Q; Bettencourt, C; Machado, PM; Fox, Z; Brady, S; Healy, E; Parton, M; (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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Gang, Q; Bettencourt, C; Machado, PM; Hanna, MG; Houlden, H; Brady, S; Healy, E; (2015) The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiology of Aging , 36 (4) 1766.e1 - 1766.e3. 10.1016/j.neurobiolaging.2014.12.039.

Gang, Q; Machado, P; Bettencourt, C; Brady, S; Healy, E; Parton, M; Holton, JL; (2015) Using whole-exome sequencing to identify mutations of SQSTM1 and VCP in inclusion body myositis. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 44 - 44).

Hufnagel, RB; Arno, G; Hein, ND; Hersheson, J; Prasad, M; Anderson, Y; Krueger, LA; (2015) Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet , 52 (2) 85 - 94. 10.1136/jmedgenet-2014-102856.

Karaszewski, B; Houlden, H; Smith, EE; Markus, HS; Charidimou, A; Levi, C; Werring, DJ; (2015) What causes intracerebral bleeding after thrombolysis for acute ischaemic stroke? Recent insights into mechanisms and potential biomarkers. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2014-309705.

Kiely, AP; Ling, H; Asi, YT; Kara, E; Limousin, P; Lewis, P; Proukakis, C; (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 31 - 31).

Morgan, S; Shoai, M; Fratta, P; Sidle, K; Orrell, R; Sweeney, MG; Shatunov, A; (2015) Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiol Aging , 36 (3) 1600.e5 - 1600.e8. 10.1016/j.neurobiolaging.2014.12.017.

Morgan, S; Shoai, M; Hardy, J; Pittman, A; Houlden, H; Fratta, P; Sidle, K; (2015) Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiology of Aging , 36 (3) 1600.e5 - 1600.e8. 10.1016/j.neurobiolaging.2014.12.017.

Paudel, R; Strand, C; Bandopadhyay, R; de Silva, R; Wiethoff, S; Li, A; Houlden, H; (2015) Beta-propeller protein associated neurodegeneration: Neuropathological features. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 33 - 34).

Rossor, AM; Oates, EC; Salter, HK; Liu, Y; Murphy, SM; Schule, R; Gonzalez, MA; (2015) Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain , 138 (Pt 2) 293 - 310. 10.1093/brain/awu356.

Scalco, RS; Gardiner, A; Godfrey, R; Olpin, SE; Kirk, R; Majumdar, A; Murphy, E; (2015) Extensive genetic investigation in recurrent rhabdomyolysis and vacuolar myopathy: an undiagnosed case report. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 45 - 45).

Scholz, SW; Majounie, E; Revesz, T; Holton, JL; Okun, MS; Houlden, H; Singleton, AB; (2015) Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiol Aging , 36 (2) 1223.e1 - 1223.e2. 10.1016/j.neurobiolaging.2014.08.033.

Scholz, SW; Majounie, E; Singleton, AB; Revesz, T; Holton, JL; Houlden, H; Okun, MS; (2015) Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiology of Aging , 36 (2) 1223.e1 - 1223.e2. 10.1016/j.neurobiolaging.2014.08.033.

Schottlaender, LV; Petzold, A; Wood, N; Houlden, H; (2015) Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. J Neurol Sci , 348 (1-2) 266 - 268. 10.1016/j.jns.2014.12.008.

Schottlaender, LV; Polke, JM; Ling, H; MacDoanld, ND; Tucci, A; Nanji, T; Pittman, A; (2015) Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism", [Neurobiol. Aging, 36, (2015), 1221.e1-1221.e6], doi:10.1016/j.neurobiolaging.2014.08.024. Neurobiology of Aging , 36 (4) 1768 - 1768. 10.1016/j.neurobiolaging.2015.02.027.

Schottlaender, LV; Polke, JM; Ling, H; MacDoanld, ND; Tucci, A; Nanji, T; Pittman, A; (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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Schottlaender, LV; Polke, JM; Ling, H; Tucci, A; Nanji, T; Pittman, A; de Silva, R; (2015) The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiology of Aging , 36 (2) 1221.e1 - 1221.e6. 10.1016/j.neurobiolaging.2014.08.024.

2014

Ahmed, RM; Murphy, E; Davagnanam, I; Parton, M; Schott, JM; Mummery, CJ; Rohrer, JD; (2014) A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry , 85 (7) 770 - 781. 10.1136/jnnp-2013-305888.

Ahmed, RM; Schott, JM; Mummery, CJ; Rohrer, JD; Fox, NC; Murphy, E; Lachmann, RH; (2014) A practical approach to diagnosing adult onset leukodystrophies. Journal of Neurology, Neurosurgery and Psychiatry , 85 (7) 770 - 781. 10.1136/jnnp-2013-305888.

Asi, YT; Lees, AJ; Revesz, T; Holton, JL; Simpson, JE; Heath, PR; Wharton, SB; (2014) Alpha-synuclein mRNA expression in oligodendrocytes in MSA. GLIA , 62 (6) 964 - 970. 10.1002/glia.22653.

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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Beaufort, N; Scharrer, E; Kremmer, E; Lux, V; Ehrmann, M; Huber, R; Houlden, H; (2014) Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling. Proc Natl Acad Sci U S A , 111 (46) 16496 - 16501. 10.1073/pnas.1418087111.

Beck, J; Pittman, A; Adamson, G; Campbell, T; Kenny, J; Houlden, H; Rohrer, JD; (2014) Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging , 35 (1) 261 - 265. 10.1016/j.neurobiolaging.2013.07.017.

Berardo, A; Schottlaender, L; Houlden, H; Leiguarda, R; Reisin, R; (2014) Nueva mutación en SPG11 en una paciente con paraplejía espástica hereditaria complicada: Hallazgos clínicos-electrofisiológicos y moleculares. Neurologia Argentina 10.1016/j.neuarg.2014.01.009.

Bertini, E; Houlden, H; (2014) Defects of RNA metabolism in the pathogenesis of spinal muscular atrophy. Neurology , 82 (15) 1298 - 1299. 10.1212/WNL.0000000000000321.

Bettencourt, C; Ryten, M; Forabosco, P; Schorge, S; Hersheson, J; Hardy, J; Houlden, H; (2014) Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia. JAMA Neurol , 71 (7) 831 - 839. 10.1001/jamaneurol.2014.756.

Boizot, A; Talmat-Amar, Y; Morrogh, D; Kuntz, NL; Halbert, C; Chabrol, B; Houlden, H; (2014) The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. Acta Neuropathol Commun , 2 47 - ?. 10.1186/2051-5960-2-47.

Cottenie, E; Kochanski, A; Jordanova, A; Bansagi, B; Zimon, M; Horga, A; Jaunmuktane, Z; (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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Dale, RC; Gardiner, A; Branson, JA; Houlden, H; (2014) Benefit of carbamazepine in a patient with hemiplegic migraine associated with PRRT2 mutation. Dev Med Child Neurol , 56 (9) 910 - ?. 10.1111/dmcn.12396.

Dale, RC; Gardiner, A; Houlden, H; Branson, JA; (2014) Benefit of carbamazepine in a patient with hemiplegic migraine associated with PRRT2 mutation. Developmental Medicine and Child Neurology , 56 (9) 910 - 910. 10.1111/dmcn.12396.

Dusi, S; Valletta, L; Haack, TB; Tsuchiya, Y; Venco, P; Pasqualato, S; Goffrini, P; (2014) Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet , 94 (1) 11 - 22. 10.1016/j.ajhg.2013.11.008.

Dusi, S; Valletta, L; Venco, P; Invernizzi, F; Garavaglia, B; Tiranti, V; Haack, TB; (2014) Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. American Journal of Human Genetics , 94 (1) 11 - 22. 10.1016/j.ajhg.2013.11.008.

Erro, R; Hersheson, J; Ganos, C; Mencacci, NE; Stamelou, M; Batla, A; Thust, SC; (2014) H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord 10.1002/mds.26129.

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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Heckman, MG; Schottlaender, L; Soto-Ortolaza, AI; Diehl, NN; Rayaprolu, S; Ogaki, K; Fujioka, S; (2014) LRRK2 exonic variants and risk of multiple system atrophy. Neurology , 83 (24) 2256 - 2261. 10.1212/WNL.0000000000001078.

Hemsch, MJ; Houlden, HP; (2014) Repeatability modeling for wind-tunnel measurements: Results for three langley facilities. 52nd AIAA Aerospace Sciences Meeting - AIAA Science and Technology Forum and Exposition, SciTech 2014

Hensman Moss, DJ; Poulter, M; Beck, J; Hehir, J; Polke, JM; Campbell, T; Adamson, G; (2014) C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology , 82 (4) 292 - 299. 10.1212/WNL.0000000000000061.

Hersheson, J; Burke, D; Clayton, R; Anderson, G; Jacques, TS; Mills, P; Wood, NW; (2014) Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. Neurology , 83 (20) 1873 - 1875. 10.1212/WNL.0000000000000981.

Horga, A; Pitceathly, RD; Blake, JC; Woodward, CE; Zapater, P; Fratter, C; Mudanohwo, EE; (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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Jacques, TS; Andersen, G; Hersheson, J; Burke, D; Clayton, R; Mills, P; Wood, N; (2014) Distinctive muscle pathology in patients with mutations in the Cathepsin D gene. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 16 - 17).

Jaffer, F; Avbersek, A; Kaski, JP; Parton, M; Houlden, H; Hanna, MG; Cross, JH; (2014) CARDIAC FEATURES IN ADULTS WITH ALTERNATING HEMIPLEGIA. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Jaffer, F; Gardiner, A; Polke, J; Pittman, A; Prabhakar, P; Kurian, M; Sweeney, M; (2014) THE CLINICAL AND GENETIC SPECTRUM OF HEMIPLEGIC MIGRAINE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Kara, E; Bras, J; Wood, NW; Hardy, J; Houlden, H; Hernandez, D; Xiromerisiou, G; (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiology of Aging , 35 (2) 10.1016/j.neurobiolaging.2013.07.011.

Kara, E; Kiely, A; Proukakis, C; Giffin, N; Love, S; Hehir, J; Rantell, K; (2014) A 6.4MB duplication of the alpha-synuclein locus causing frontotemporal dementia and Parkinsonism - phenotype-genotype correlations. MOVEMENT DISORDERS , 29 S54 - S54.

Kara, E; Kiely, AP; Proukakis, C; Giffin, N; Love, S; Hehir, J; Rantell, K; (2014) A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurology , 71 (9) 1162 - 1171. 10.1001/jamaneurol.2014.994.

Kara, E; Xiromerisiou, G; Spanaki, C; Bozi, M; Koutsis, G; Panas, M; Dardiotis, E; (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging , 35 (2) 442.e9 - 442.e16. 10.1016/j.neurobiolaging.2013.07.011.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; (2014) How do G51D SNCA mutation cases compare clinically and neuropathologically to SNCA duplication and H50Q SNCA mutation? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 11 - 12).

Koutsis, G; Kladi, A; Karadima, G; Houlden, H; Wood, NW; Christodoulou, K; Panas, M; (2014) Friedreich's ataxia and other hereditary ataxias in Greece: an 18-year perspective. J Neurol Sci , 336 (1-2) 87 - 92. 10.1016/j.jns.2013.10.012.

Koutsis, G; Kladi, A; Karadima, G; Panas, M; Houlden, H; Wood, NW; Christodoulou, K; (2014) Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. Journal of the Neurological Sciences , 336 (1-2) 87 - 92. 10.1016/j.jns.2013.10.012.

Kruer, MC; Salih, MA; Mooney, C; Alzahrani, J; Alkuraya, F; Elmalik, SA; Kabiraj, MM; (2014) C19orf12 mutation leads to a pallido-pyramidal syndrome. Gene , 537 (2) 352 - 356. 10.1016/j.gene.2013.11.039.

Kruer, MC; Salih, MA; Mooney, C; Alzahrani, J; Elmalik, SA; Kabiraj, MM; Khan, AO; (2014) C19orf12 mutation leads to a pallido-pyramidal syndrome. Gene , 537 (2) 352 - 356. 10.1016/j.gene.2013.11.039.

Ling, H; Kara, E; Revesz, T; Lees, AJ; Plant, GT; Martino, D; Houlden, H; (2014) Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 40 - 41).

Ling, H; Kara, E; Revesz, T; Lees, AJ; Plant, GT; Martino, D; Houlden, H; (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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Ling, H; Lees, A; Kara, E; de Silva, R; Li, A; Kiely, A; Courtney, R; (2014) Slowly progressive L-dopa responsive parkinsonism with neurofibrillary tangle pathology: A new clinicopathological entity? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 13 - 13).

Liu, Y-T; Laura, M; Hersheson, J; Horga, A; Jaunmuktane, Z; Brandner, S; Pittman, A; (2014) Extended phenotypic spectrum of KIF5A mutations. NEUROLOGY , 83 (7) 612 - 619.

Liu, Y-T; Laurá, M; Reilly, MM; Houlden, H; Hersheson, J; Fawcett, K; Duberley, KEC; (2014) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein:Clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery and Psychiatry , 85 (5) 493 - 498. 10.1136/jnnp-2013-306483.

Liu, YT; Laurá, M; Hersheson, J; Horga, A; Jaunmuktane, Z; Brandner, S; Pittman, A; (2014) Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology , 83 (7) 612 - 619. 10.1212/WNL.0000000000000691.

Machado, PM; Ahmed, M; Brady, S; Gang, Q; Healy, E; Morrow, JM; Wallace, AC; (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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Manole, A; Fratta, P; Houlden, H; (2014) Recent advances in bulbar syndromes: Genetic causes and disease mechanisms. Current Opinion in Neurology , 27 (5) 506 - 514. 10.1097/WCO.0000000000000133.

Manole, A; Fratta, P; Houlden, H; (2014) Recent advances in bulbar syndromes: genetic causes and disease mechanisms. Curr Opin Neurol , 27 (5) 506 - 514. 10.1097/WCO.0000000000000133.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. BRAIN , 137 2480 - 2492. 10.1093/brain/awu179.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (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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Nalls, MA; Pankratz, N; Lill, CM; Do, CB; Hernandez, DG; Saad, M; DeStefano, AL; (2014) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet , 46 (9) 989 - 993. 10.1038/ng.3043.

Nowak, VA; Bremner, F; Massey, L; Wokke, B; Moosavi, R; Kara, E; Houlden, H; (2014) Kjellin syndrome: hereditary spastic paraplegia with pathognomonic macular appearance. Pract Neurol , 14 (4) 278 - 279. 10.1136/practneurol-2014-000861.

Paudel, R; Kiely, A; Li, A; Lashley, T; Bandopadhyay, R; Hardy, J; Jinnah, HA; (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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Perumal, MB; Kovac, S; Shah, A; Wood, N; Houlden, H; Eriksson, S; Walker, M; (2014) Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency. J Sleep Res , 23 (1) 118 - 120. 10.1111/jsr.12085.

Proukakis, C; Shoaee, M; Morris, J; Brier, T; Kara, E; Sheerin, UM; Charlesworth, G; (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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Proukakis, C; Shoaee, M; Morris, J; Brier, T; Schapira, AH; Kara, E; Sheerin, U-M; (2014) Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Movement Disorders , 29 (8) 1060 - 1064. 10.1002/mds.25883.

Scalco, RS; Pitceathly, RDS; Gardiner, A; Woodward, C; Polke, JM; Sweeney, MG; Olpin, SE; (2014) Utilising next-generation sequencing to determine the genetic basis of recurrent rhabdomyolysis. In: NEUROMUSCULAR DISORDERS. (pp. 801 - 801).

Schottlaender, LV; Holton, JL; Houlden, H; (2014) Multiple system atrophy and repeat expansions in C9orf72. JAMA Neurol , 71 (9) 1190 - 1191. 10.1001/jamaneurol.2014.1808.

Schottlaender, LV; Houlden, H; (2014) Mutant COQ2 in Multiple-System Atrophy [5]. New England Journal of Medicine , 371 (1) 81 - 81. 10.1056/NEJMc1311763.

Schottlaender, LV; Houlden, H; Multiple-System Atrophy (MSA) Brain Bank Collaboration, ; (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med , 371 (1) 81 - ?. 10.1056/NEJMc1311763#SA3.

Silveira-Moriyama, L; Ryten, M; Forabosco, P; Lees, A; Houlden, H; Hardy, J; Warner, T; (2014) White matter involvement may explain phenotypic pleiotropy amongst genes involved in episodic movement disorders. In: MOVEMENT DISORDERS. (pp. 1847 - 1848).

Stamelou, M; Charlesworth, G; Cordivari, C; Schneider, SA; Kaegi, G; Sheerin, U-M; Rubio-Agusti, I; (2014) The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations. MOVEMENT DISORDERS , 29 (7) 928 - 934. 10.1002/mds.25802.

Stamelou, M; Charlesworth, G; Cordivari, C; Schneider, SA; Kägi, G; Sheerin, UM; Rubio-Agusti, I; (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; (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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Tucci, A; Liu, Y-T; Preza, E; Pitceathly, RDS; Trabzuni, D; Ryten, M; Reilly, MM; (2014) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery and Psychiatry , 85 (5) 486 - 492. 10.1136/jnnp-2013-306387.

Wiethoff, S; Bettencourt, C; Hardy, J; Houlden, H; Xiromerisiou, G; Tsiptsios, I; Tychalas, A; (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) 220 - 222. 10.1016/j.jns.2014.01.034.

Wiethoff, S; Xiromerisiou, G; Bettencourt, C; Kioumi, A; Tsiptsios, I; Tychalas, A; Evaggelia, M; (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. J Neurol Sci , 339 (1-2) 220 - 222. 10.1016/j.jns.2014.01.034.

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, H-C; Burchell, VS; Preza, E; Wray, S; Houlden, H; Hardy, J; (2013) Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028.

Bartolome, F; Wu, HC; Burchell, VS; Preza, E; Wray, S; Mahoney, CJ; Fox, NC; (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; (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.

Beck, J; Poulter, M; Hensman, D; Rohrer, JD; Mahoney, CJ; Adamson, G; Campbell, T; (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. Green open access
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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. J Neurol , 260 (9) 2414 - 2416. 10.1007/s00415-013-7044-6.

Burchell, VS; Delgado-Camprubi, M; Wray, S; Lewis, PA; Houlden, H; Abramov, AY; Hardy, J; (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature Neuroscience , 16 (9) 1257 - 1265. 10.1038/nn.3489.

Burchell, VS; Nelson, DE; Sanchez-Martinez, A; Delgado-Camprubi, M; Ivatt, RM; Pogson, JH; Randle, SJ; (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci , 16 (9) 1257 - 1265. 10.1038/nn.3489.

Cottenie, E; Menezes, MP; Rossor, AM; Morrow, JM; Blake, JC; Houlden, H; Reilly, MM; (2013) Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscular Disorders , 23 (5) 399 - 403. 10.1016/j.nmd.2013.01.010.

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

Cregg, R; Laguda, B; Werdehausen, R; Cox, JJ; Linley, JE; Ramirez, JD; Bodi, I; (2013) Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia. Neuromolecular Med , 15 (2) 265 - 278. 10.1007/s12017-012-8216-8. Gold open access

Cregg, R; Werdehausen, R; Cox, JJ; Linley, JE; Wood, JN; Laguda, B; Agnew, K; (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) 265 - 278. 10.1007/s12017-012-8216-8.

Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; Mehta, A; (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; Liu, Y-T; Revesz, T; Herscheson, J; Schottlaender, L; Giunti, P; Wood, N; (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. Journal of Neurology , 260 (3) 856 - 859. 10.1007/s00415-012-6721-1.

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

Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; (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; Yo-Tsen, L; Hadjivassilious, M; Speziani, F; (2013) Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry , 84 (11) 1247 - 1249. 10.1136/jnnp-2013-305049.

Gonzalez, M; Speziani, F; Züchner, S; McLaughlin, H; Antonellis, A; Houlden, H; Liu, Y-T; (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) 1247 - 1249. 10.1136/jnnp-2013-305049.

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, JD; Taipa, R; Lashley, T; (2013) Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol , 70 (7) 875 - 882. 10.1001/jamaneurol.2013.698.

Hammer, MB; Eleuch-Fayache, G; Schottlaender, LV; Nehdi, H; Gibbs, JR; Arepalli, SK; Chong, SB; (2013) Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet , 92 (2) 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. Mov Disord , 28 (4) 561 - 562. 10.1002/mds.25415.

Hayflick, SJ; Kruer, MC; Gregory, A; Haack, TB; Kurian, MA; Houlden, HH; Anderson, J; (2013) β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain , 136 (Pt 6) 1708 - 1717. 10.1093/brain/awt095.

Hersheson, J; Mencacci, NE; Davis, M; MacDonald, N; Trabzuni, D; Ryten, M; Pittman, A; (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol , 73 (4) 546 - 553. 10.1002/ana.23832.

Hersheson, J; Mencacci, NE; Davis, M; Trabzuni, D; Ryten, M; Pittman, A; Paudel, R; (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Annals of Neurology , 73 (4) 546 - 553. 10.1002/ana.23832.

Houlden, H; (2013) Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes. Brain , 136 (Pt 3) 692 - 695. 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: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 54 - 54).

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; Hardy, J; Houlden, H; (2013) The pallidopyramidal syndromes: nosology, aetiology and pathogenesis. Curr Opin Neurol , 26 (4) 381 - 394. 10.1097/WCO.0b013e3283632e83.

Kara, E; Lewis, PA; Ling, H; Houlden, H; Hardy, J; Proukakis, C; (2013) α-Synuclein mutations cluster around a putative protein loop. Neuroscience Letters , 546 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; (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) 186 - 196. Gold open access

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; (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; (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; (2013) Synucleinopathy with a G51D a-synuclein mutation: a neuropathological and genetic study. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 39 - 40).

Kiely, AP; Asi, YT; Ling, H; Lees, AJ; Hardy, J; Revesz, T; Holton, JL; (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) 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. Clin Genet , 83 (4) 388 - 391. 10.1111/j.1399-0004.2012.01910.x.

Kruer, MC; Jepperson, T; Dutta, S; Steiner, RD; Cottenie, E; Sanford, L; Merkens, M; (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; (2013) HEREDITARY SENSORY NEUROPATHY TYPE 1: A NATURAL HISTORY STUDY. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 62 - 62).

Li, A; Paudel, R; Johnson, R; Courtney, R; Lees, AJ; Holton, JL; Hardy, J; (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; (2013) TDP-43 pathology in a patient carrying G2019S LRRK2mutation and a novel p.Q124E MAPT. Neurobiology of Aging , 34 (12) 10.1016/j.neurobiolaging.2013.04.011.

Ling, H; Kara, E; Bandopadhyay, R; Hardy, J; Holton, J; Xiromerisiou, G; Lees, A; (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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Liu, YT; Hersheson, J; Plagnol, V; Fawcett, K; Duberley, KE; Preza, E; Hargreaves, IP; (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; (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; (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; (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; (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) 119 - 122. 10.1016/j.jns.2013.08.003. 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. J Neurol Sci , 334 (1-2) 119 - 122. 10.1016/j.jns.2013.08.003.

Oates, EC; Rossor, AM; Hafezparast, M; Gonzalez, M; Speziani, F; MacArthur, DG; Lek, M; (2013) Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet , 92 (6) 965 - 973. 10.1016/j.ajhg.2013.04.018.

Pitceathly, RD; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; (2013) NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. Cell Rep , 3 (6) 1795 - 1805. 10.1016/j.celrep.2013.05.005.

Pitceathly, RDS; Rahman, S; Houlden, H; Hanna, M; Wedatilake, Y; Polke, JM; Woodward, CE; (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease. Cell Reports , 3 (6) 1795 - 1805. 10.1016/j.celrep.2013.05.005.

Pitceathly, RDS; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; (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) 402 - 402. 10.1016/j.celrep.2013.06.032. Gold open access

Proukakis, C; Dudzik, CG; Brier, T; MacKay, DS; Cooper, JM; Millhauser, GL; Houlden, H; (2013) A novel α-synuclein missense mutation in Parkinson disease. Neurology , 80 (11) 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 10.1002/mds.25502. Green open access
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Proukakis, C; Schapira, AH; Houlden, H; (2013) Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data. Movement Disorders , 28 (6) 705 - 712. 10.1002/mds.25502.

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

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: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 96 - 96).

Rossor, AM; Oates, EC; Hafezparast, M; Cottenie, E; Houlden, H; Scoto, M; Foley, R; (2013) A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA). In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 96 - 97).

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

Rossor, AM; Scoto, M; Harms, M; Baloh, R; Houlden, H; Sewry, C; Manzur, A; (2013) THE PHENOTYPIC GENETIC SPECTRUM OF PATIENTS WITH MUTATIONS IN CYTOPLASMIC DYNEIN HEAVY CHAIN 1 (DYNC1H1). In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 97 - 97).

Silveira-Moriyama, L; Gardiner, A; Meyer, E; King, MD; Smith, M; Rakshi, K; Parker, A; (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; (2013) Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol , 55 (4) 327 - 334. 10.1111/dmcn.12056.

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

Stamelou, M; Lai, SC; Aggarwal, A; Schneider, SA; Houlden, H; Yeh, TH; Batla, A; (2013) Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes? Mov Disord , 28 (10) 1325 - 1329. 10.1002/mds.25490.

Stamelou, M; Schneider, SA; Batla, A; Bhatia, KP; Lai, SC; Yeh, T-H; Lu, C-S; (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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Sumner, CJ; D'Ydewalle, C; Wooley, J; Cornblath, DR; Fawcett, KA; Gardiner, AR; Reilly, MM; (2013) A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. American Journal of Human Genetics , 93 (5) 976 - 983. 10.1016/j.ajhg.2013.10.006.

Sumner, CJ; d'Ydewalle, C; Wooley, J; Fawcett, KA; Hernandez, D; Gardiner, AR; Kalmar, B; (2013) A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet , 93 (5) 976 - 983. 10.1016/j.ajhg.2013.10.006.

Tucci, A; Kara, E; Fawcett, K; Lo, C-N; Shorvon, S; Hardy, J; Zschocke, J; (2013) Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation , 34 (2) 296 - 300. 10.1002/humu.22241.

Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; Paisán-Ruiz, C; (2013) Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat , 34 (2) 296 - 300. 10.1002/humu.22241.

Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; (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; (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. Neuropathol Appl Neurobiol , 38 (1) 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 8 - 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: NEUROMUSCULAR DISORDERS. (pp. S18 - S18).

Dale, RC; Gardiner, A; Antony, J; Houlden, H; (2012) Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol , 54 (10) 958 - 960. 10.1111/j.1469-8749.2012.04394.x.

Davidson, G; Murphy, S; Polke, J; Laura, M; Salih, M; Muntoni, F; Blake, J; (2012) Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J Neurol , 259 (8) 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) 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. J Neurol , 259 (12) 2726 - 2728. 10.1007/s00415-012-6642-z.

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

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

Foley, AR; Broomfield, AA; Pandraud, A; Johnson, JO; Singleton, AB; Hargreaves, IP; Land, JM; (2012) High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement. In: NEUROMUSCULAR DISORDERS. (pp. S4 - S4).

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: JOURNAL OF MEDICAL GENETICS. (pp. S119 - S119).

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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; (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; (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; Laurá, M; Houlden, H; Lunn, MP; Brandner, S; Mirsky, R; (2011) c-Jun expression in human neuropathies: a pilot study. J Peripher Nerv Syst , 16 (4) 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: MOVEMENT DISORDERS. (pp. S310 - S311).

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; (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; (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; (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; (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; (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; (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; (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; (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; (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; (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; (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; (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; (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; (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; (2010) Defective Fatty Acid Hydroxylase Leads to a Novel Subtype of Neurodegeneration with Brain Iron Accumulation (NBIA). In: ANNALS OF NEUROLOGY. (pp. S30 - S31).

Kruer, MC; Paisan-Ruiz, C; Yoon, MY; Hama, H; Gregory, A; Malandrini, A; Woltjer, RL; (2010) Mutation in FA2H leads to Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN). In: ANNALS OF NEUROLOGY. (pp. S91 - S91).

Landoure, G; Zdebik, AA; Martinez, TL; Burnett, BG; Stanescu, HC; Inada, H; Shi, YJ; (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; (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; (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; (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; (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; Hardy, J; Lees, AJ; Houlden, H; Hanagasi, H; (2010) Early-onset L-dopa-responsive Parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and Spatacsin mutations. Movement Disorders , 25 (12) 1791 - 1800. 10.1002/mds.23221.

Penno, A; Reilly, MM; Houlden, H; Laura, M; Rentsch, K; Niederkofler, V; Stoeckli, ET; (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; (2010) Variable phenotypes are associated with pmp22 missense mutations. In: JOURNAL OF NEUROLOGY. (pp. S40 - S40). SPRINGER HEIDELBERG

Russou, M; Laura, M; Polke, JM; Davis, MB; Blake, J; Bradner, S; Houlden, H; (2010) Diverse phenotypes are associated with missense mutations in the peripheral myelin protein 22 gene. In: NEUROMUSCULAR DISORDERS. (pp. S21 - S21). PERGAMON-ELSEVIER SCIENCE LTD

Sailer, A; Kurzawa, M; Chinnery, PF; McKeith, IG; Morris, CM; Houlden, H; (2010) The SNCA locus in dementia with Lewy bodies. In: MOVEMENT DISORDERS. (pp. S488 - S488). WILEY-LISS

Sailer, A; Paisa-Puiz, C; Li, A; Paudel, R; Scholz, SW; Ahmed, Z; Revesz, T;