Results 31 to 40 of about 33,006 (235)

Generation of induced pluripotent stem cell line RCPCMi008-A derived from patient with spinocerebellar ataxia 17

Stem Cell Research, 2021
IPSC line RCPCMi004-8 was generated from skin fibroblasts collected from a male patient with spinocerebellar ataxia 17. The patient has expanded trinucleotide CAG repeats in the TBP (TATA-binding protein) gene on chromosome 6q27.
L.D. Shuvalova, A.V. Davidenko, A.V. Eremeev, E.A. Khomyakova, E.A. Zerkalenkova, O.S. Lebedeva, A.N. Bogomazova, S.A. Klyushnikov, S.N. Illarioshkin, M.A. Lagarkova   +9 more
doaj   +1 more source

An understanding of spinocerebellar ataxia

Indian Journal of Medical Research, 2015
Advances in molecular genetics techniques have given several approaches to diagnose most common complex genetic disorders and also these advances have helped to diagnose the rare complex disorders. Autosomal dominant cerebellar ataxias are a group of hereditary neurodegenerative disorders and are characterized by a generalized incoordination of gait ...
Ramachandra, N. B., Kusuma, L.
openaire   +3 more sources

Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family

The Pan African Medical Journal, 2021
Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy.
Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-vuillaume, Kenza Dafir, Nisrine Aboussair   +7 more
doaj   +1 more source

Spinocerebellar Ataxia 3 (SCA3) Patient with Peripheral Neuropathy

Majalah Kedokteran Bandung, 2022
Spinocerebellar ataxia (SCA) 3 is a neurodegenerative disease which involves cerebellum and extra cerebellum. Neuropathy in SCA3 manifests in various ways, including axonal and demyelination lesions in sensory and motor nerves.
Siti Aminah Sobana, Iin Pusparini, Nushrotul Lailiyya, Ahmad Rizal Ganiem, Uni Gamayani, Yusuf Wibisono, Fathul Huda, Yunia Sribudiani, Tri Hanggono Achmad   +8 more
doaj   +1 more source

The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice [PDF]

, 2009
Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor ...
Kneussel Matthias, Loebrich, S, Sven Loebrich, Hevers, Wulf, Michaela Schweizer, Eilers, Jens, Đikić, Ivan, Corinna Lappe-Siefke, Wilson, Scott M., Scott M Wilson, Waidmann Oliver B., Fehr Susanne, Schweizer, M, Kneussel, Matthias, Oliver B Waidmann, Fritschy Jean-Marc, Jean-Marc Fritschy, Wilson, S M, Schweizer Michaela, Jens Eilers, Eilers, J, Fritschy, Jean-Marc, Ivan Dikic, Fritschy, J M, Dikic, I, Schweizer, Michaela, Eilers Jens, Susanne Fehr, Waidmann, O B, Wilson Scott M., Fehr, Susanne, Matthias Kneussel, Fehr, S, Lappe-Siefke, Corinna, Waidmann, Oliver, Dikic Ivan, Loebrich Sven, Hevers Wulf, Lappe-Siefke, C, Hevers, W, Kneussel, M, Löbrich, Sven, Wulf Hevers, Lappe-Siefke Corinna   +43 more
core   +1 more source

Gene, Stem Cell, and Alternative Therapies for SCA 1

Frontiers in Molecular Neuroscience, 2016
Spinocerebellar ataxia 1 is an autosomal dominant disease characterized by neurodegeneration and motor dysfunction. In disease pathogenesis, polyglutamine expansion within Ataxin-1, a gene involved in transcriptional repression, causes protein nuclear ...
Jacob Lewis Wagner, Deirdre Margaret O'Connor, Anthony Donsante, Nicholaus M Boulis   +3 more
doaj   +1 more source

Generation of induced pluripotent stem cell(iPSC)line CJUHi001-A derived peripheral blood mononuclear cells of spinocerebellar ataxia type 1(SCA1) the CAG repeat mutation in ATXN1 gene

Stem Cell Research, 2023
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by CAG repeat mutations in the ATXN1 gene. In this study, we generated an induced pluripotent stem cell line (iPSC) by using non-integrating Sendai virus (SeV)
Yinshi Jin, Guangxian Nan
doaj   +1 more source

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Molecular Genetics and Metabolism Reports, 2018
Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy ...
Annet M. Bosch, Erik-Jan Kamsteeg, Richard J. Rodenburg, Arend W. van Deutekom, Dennis R. Buis, Marc Engelen, Jan-Maarten Cobben   +6 more
doaj   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Lopes-Cendes, Iscia, Odile Russaouen, Cécile Cazeneuve, Cazeneuve, Cécile, Walker R.H., Russaouen O., Bader B., Guilherme Riccioppo Rodrigues, Brice A., Russaouen, Odile, Tumas, Vitor, Wilson Marques Jr., Rodrigues G.R., Iscia Lopes-Cendes, Danek, Adrian, Adrian Danek, MARQUES JR., Wilson, Brice, Alexis, Marques Jr. W., Marques, Wilson, Vitor Tumas, Walker, Ruth H., Bader, Benedikt, Benedikt Bader, Danek A., Cazeneuve C., Ruth H. Walker, Riccioppo Rodrigues, Guilherme, RODRIGUES, Guilherme Riccioppo, Alexis Brice, Tumas V., Lopes-Cendes I.   +31 more
core   +1 more source

Spinocerebellar Ataxia [PDF]

, 2022
This book is about spinocerebellar ataxia (SCA), which is among the most challenging pathologies in the neurological landscape. It covers basic concepts, functional classification, and new approaches to medical and non-medical treatment including ...

core   +1 more source