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Human Molecular Genetics|May 22, 2016
The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutationsClément A Gautier, Zoi Erpapazoglou, François Mouton-Liger, et al.
Archives of Neurology|April 12, 2012
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegiaSophie Tezenas du Montcel, Perrine Charles, Cyril Goizet, et al.
American Journal of Human Genetics|April 16, 2024
CAG repeat mosaicism is gene specific in spinocerebellar ataxiasRadhia Kacher, François-Xavier Lejeune, Isabelle David, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 31, 2006
A genetic cluster of early onset Parkinson's disease in a Colombian populationNicolas Pineda-Trujillo, Maria Apergi, Sonia Moreno, et al.
JAMA Neurology|May 24, 2013
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32Carmen Serrano-Munuera, Marc Corral-Juan, Giovanni Stevanin, et al.
Biochemical Pharmacology|November 27, 2013
Perspective on future role of biological markers in clinical therapy trials of Alzheimer's disease: a long-range point of view beyond 2020Harald Hampel, Simone Lista, Stefan J Teipel, et al.
Neurology|April 5, 2015
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxiaMarie Coutelier, Lydie Burglen, Emeline Mundwiller, et al.
European Journal of Human Genetics : EJHG|November 4, 2004
PARK11 is not linked with Parkinson's disease in European familiesJürgen Prestel, Manu Sharma, Petra Leitner, et al.
BMC Medical Genetics|May 10, 2018
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese familyLiena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 1, 2005
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's diseaseMaria Martinez, Alexis Brice, Jenny R Vaughan, et al.
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