Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation by Jaffer, F, Fawcett, K, Sims, D, Heger, A, Houlden, H, Hanna, MG, Kingston, H, Sisodiya, SM

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. by Lee, M, Nelson, I, Houlden, H, Sweeney, MG, Hilton-Jones, D, Blake, J, Wood, N, Reilly, M

Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum by Bucknor, EMV, Johnson, E, Efthymiou, S, Alvi, JR, Sultan, T, Houlden, H, Maroofian, R, Karimiani, EG, Finelli, MJ, Oliver, PL

A common polymorphism in the brain-derived neurotrophic factor gene ( BDNF) modulates human cortical plasticity and the response to rTMS by Cheeran, B, Talelli, P, Mori, F, Koch, G, Suppa, A, Edwards, M, Houlden, H, Bhatia, K, Greenwood, R, Rothwell, J

A common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS. by Cheeran, B, Talelli, P, Mori, F, Koch, G, Suppa, A, Edwards, M, Houlden, H, Bhatia, K, Greenwood, R, Rothwell, J

Variable phenotypes are associated with PMP22 missense mutations. by Russo, M, Laurá, M, Polke, J, Davis, M, Blake, J, Brandner, S, Hughes, R, Houlden, H, Bennett, D, Lunn, M, Reilly, M

Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies by Nagy, S, Carr, A, Mroczek, M, Rinaldi, S, Curro, R, Dominik, N, Japzon, N, Magrinelli, F, Lunn, MP, Manji, H, Reilly, MM, Cortese, A, Houlden, H

Tubular aggregates and cylindrical spirals have distinct immunohistochemical signatures by Brady, S, Healy, E, Gang, Q, Parton, M, Quinlivan, R, Jacob, S, Curtis, E, Al-Sarraj, S, Sewry, C, Hanna, M, Houlden, H, Beeson, D, Holton, J

Excess α-synuclein compromises phagocytosis in iPSC-derived macrophages. by Haenseler, W, Zambon, F, Lee, H, Vowles, J, Rinaldi, F, Duggal, G, Houlden, H, Gwinn, K, Wray, S, Luk, K, Wade-Martins, R, James, W, Cowley, S

Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes by Jabbari, E, Woodside, J, Guo, T, Magdalinou, N, Chelban, V, Athauda, D, Lees, A, Foltynie, T, Houlden, H, Church, A, Hu, M, Rowe, J, Zetterberg, H, Morris, H

Dominant mutations in GRM1 cause spinocerebellar ataxia type 44 by Watson, L, Bamber, E, Schnekenberg, R, Williams, J, Bettencourt, C, Lickiss, J, Fawcett, K, Clokie, S, Wallis, Y, Clouston, P, Sims, D, Houlden, H, Becker, E, Németh, A

Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary Erythromelalgia by Cregg, R, Laguda, B, Werdehausen, R, Cox, J, Linley, J, Ramirez, J, Bodi, I, Markiewicz, M, Howell, K, Chen, Y, Agnew, K, Houlden, H, Lunn, M, Bennett, D, Wood, J, Kinali, M

Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia. by Cregg, R, Laguda, B, Werdehausen, R, Cox, J, Linley, J, Ramirez, J, Bodi, I, Markiewicz, M, Howell, K, Chen, Y, Agnew, K, Houlden, H, Lunn, M, Bennett, D, Wood, J, Kinali, M

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease by Neumann, J, Bras, J, Deas, E, O'Sullivan, S, Parkkinen, L, Lachmann, R, Li, A, Holton, J, Guerreiro, R, Paudel, R, Segarane, B, Singleton, A, Lees, A, Hardy, J, Houlden, H, Revesz, T, Wood, N

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 by Chelban, V, Wiethoff, S, Fabian-Jessing, B, Haridy, N, Khan, A, Efthymiou, S, Becker, E, O'Connor, E, Hersheson, J, Newland, K, Hojland, A, Gregersen, P, Lindquist, S, Petersen, M, Nielsen, J, Nielsen, M, Wood, N, Giunti, P, Houlden, H

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype by Matthews, E, Neuwirth, C, Jaffer, F, Scalco, RS, Fialho, D, Parton, M, Rayan, D, Suetterlin, K, Sud, R, Spiegel, R, Mein, R, Houlden, H, Schaefer, A, Healy, E, Palace, J, Quinlivan, R, Treves, S, Holton, JL, Jungbluth, H, Hanna, MG

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. by Pitceathly, R, Murphy, S, Cottenie, E, Chalasani, A, Sweeney, MG, Woodward, C, Mudanohwo, E, Hargreaves, I, Heales, S, Land, J, Holton, J, Houlden, H, Blake, J, Champion, M, Flinter, F, Robb, SA, Page, R, Rose, M, Palace, J, Crowe, C, Longman, C, Lunn, M, Rahman, S, Reilly, M, Hanna, MG

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. by Bugiardini, E, Poole, OV, Manole, A, Pittman, AM, Horga, A, Hargreaves, I, Woodward, CE, Sweeney, MG, Holton, JL, Taanman, JW, Plant, GT, Poulton, J, Zeviani, M, Ghezzi, D, Taylor, J, Smith, C, Fratter, C, Kanikannan, MA, Paramasivam, A, Thangaraj, K, Spinazzola, A, Holt, IJ, Houlden, H, Hanna, MG, Pitceathly, RDS

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies by Zimoń, M, Baets, J, Auer-Grumbach, M, Berciano, J, Garcia, A, Lopez-Laso, E, Merlini, L, Hilton-Jones, D, McEntagart, M, Crosby, A, Barisic, N, Boltshauser, E, Shaw, C, Landouré, G, Ludlow, C, Gaudet, R, Houlden, H, Reilly, M, Fischbeck, K, Sumner, C, Timmerman, V, Jordanova, A, Jonghe, P

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study by Majounie, E, Renton, A, Mok, K, Dopper, E, Waite, A, Rollinson, S, Chiò, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten, J, Abramzon, Y, Johnson, J, Sendtner, M, Pamphlett, R, Orrell, R, Mead, S, Sidle, K, Houlden, H, Rohrer, J, Morrison, K, Pall, H, Talbot, K, Ansorge, O, Hernandez, D