Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Hersheson J"'
Autor:
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
Publikováno v:
Chelban, V, Wiethoff, S, Fabian-Jessing, B K, Haridy, N A, Khan, A, Efthymiou, S, Becker, E B E, O'Connor, E, Hersheson, J, Newland, K, Hojland, A T, Gregersen, P A, Lindquist, S G, Petersen, M B, Nielsen, J E, Nielsen, M, Wood, N W, Giunti, P & Houlden, H 2018, ' Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 ', Movement Disorders, vol. 33, no. 7, pp. 1119-1129 . https://doi.org/10.1002/mds.27334
Movement Disorders
Movement Disorders
BACKGROUND: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia.METHODS: Using next gen
Autor:
Liu, Y-T, Hersheson, J, Plagnol, V, Fawcett, K, Duberley, KEC, Preza, E, Hargreaves, IP, Chalasani, A, Laura, M, Wood, NW, Reilly, MM, Houlden, H
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Background The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders. The large number of ARCA genes leads to delay and difficulties obtaining an exact diagnosis in many pati
Autor:
Praschberger, R, Balint, B, Mencacci, NE, Hersheson, J, Rubio-Agusti, I, Kullmann, DM, Bettencourt, C, Bhatia, K, Houlden, H
Publikováno v:
Movement Disorders Clinical Practice
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Background: The homozygous missense mutation c.430G>T (p.G144W) in the GOSR2 gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated GOSR2 mutation has been reported. Methods: From epilepsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::df17764fdb926f8405cf23607d881341
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8841
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8841
Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome, a rare neurodegenerative disorder of infancy and childhood. TUBB4A mutations also have been describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::a11b78aac5ddd16834d93e45088565d0
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2998743
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2998743
Objective: To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC). Methods: We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. The diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::667947b7f1204bd6f251065af655ccdc
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3110004
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3110004
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Lossof- function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal cells and are the most common
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::4fff61ef875df991348a1fa61fa5abc5
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3110699
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3110699
Autor:
Hersheson, J, Mencacci, NE, Davis, M, MacDonald, N, Trabzuni, D, Ryten, M, Pittman, A, Paudel, R, Kara, E, Fawcett, K, Plagnol, V, Bhatia, KP, Medlar, AJ, Stanescu, HC, Hardy, J, Kleta, R, Wood, NW, Houlden, H
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a characteristic hobby horse ataxic gait. We carried out a genetic linkage ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e43149cc2ede159c7e6868d50b9acaab
Publikováno v:
In Neuromuscular Disorders March 2012 22 Supplement 1:S17-S17