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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:
Sanzhaeva, Urikhan1 (AUTHOR), Boyd-Pratt, Helen2 (AUTHOR), Bender, Philip T. R.3 (AUTHOR), Saravanan, Thamaraiselvi1 (AUTHOR), Rhodes, Scott B.1 (AUTHOR), Guan, Tongju1 (AUTHOR), Billington, Neil1 (AUTHOR), Boye, Shannon E.4 (AUTHOR), Cunningham, Christopher L.5 (AUTHOR), Anderson, Charles T.3 (AUTHOR), Ramamurthy, Visvanathan1,6 (AUTHOR) ramamurthyv@hsc.wvu.edu
Publikováno v:
Communications Biology. 9/14/2024, Vol. 7 Issue 1, p1-18. 18p.
Autor:
Duță, Carmen1 (AUTHOR) carmen.duta@umfcd.ro, Muscurel, Corina1 (AUTHOR), Dogaru, Carmen Beatrice1 (AUTHOR) corina.muscurel@umfcd.ro, Stoian, Irina1 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 16, p8838. 34p.
Autor:
Alrowaished, Bader Basem1 Bader.Ruw@gmail.com, Ali, Elsayed1, Alhejji, Mohammed Saeed1, Albohassen, Mohammed Sami1, Aldandan, Ali Mohammed1
Publikováno v:
European Journal of Medical Case Reports. 2024, Vol. 8 Issue 8, p1-5. 15p.
Autor:
Lian, Mulias1 (AUTHOR), Tan, Vivienne J.2 (AUTHOR), Taguchi, Riho2 (AUTHOR), Zhao, Mingjue2 (AUTHOR), Phang, Gui-Ping2 (AUTHOR), Tan, Arnold S.2 (AUTHOR), Liu, Shuling3 (AUTHOR), Lee, Caroline G.4,5 (AUTHOR), Chong, Samuel S.1,2,6,7 (AUTHOR) paecs@nus.edu.sg
Publikováno v:
International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8073. 13p.
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