Results 21 to 30 of about 42,506 (235)

Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs

Molecular Therapy: Nucleic Acids, 2017
Spinocerebellar ataxia type 36 is a late-onset, slowly progressive cerebellar syndrome with motor neuron degeneration that is caused by expansions of a hexanucleotide repeat (GGCCTG) in the noncoding region of NOP56 gene, with a histopathological feature
Kosuke Matsuzono, Keiko Imamura, Nagahisa Murakami, Kayoko Tsukita, Takuya Yamamoto, Yuishin Izumi, Ryuji Kaji, Yasuyuki Ohta, Toru Yamashita, Koji Abe, Haruhisa Inoue   +10 more
doaj   +1 more source

Construction of induced pluripotent stem cell line (ZZUi0017-A) from the fibroblast cells of a female patient with CACNA1A mutation by unintegrated reprogramming approach

Stem Cell Research, 2020
Ataxia is a common clinical symptom of neurodegenerative diseases, such as spinocerebellar ataxia, Parkinson’s disease. Spinocerebellar ataxia includes more than 40 types.
Jing Yang, Han Liu, Huifang Sun, Zhuoya Wang, Rui Zhang, Yutao Liu, Qi Zhang, Shoutao Zhang, Jin Zhang, Changhe Shi, Yanlin Wang, Yuming Xu   +11 more
doaj   +1 more source

Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant

Journal of Veterinary Internal Medicine, 2023
Background In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration. Hypothesis/Objectives Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed.
Kimberley Stee, Mario Van Poucke, Martí Pumarola, Lise Geerinckx, Iris Van Soens, Sofie F. M. Bhatti, Luc Peelman, Ine Cornelis   +7 more
doaj   +1 more source

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source

The Spinocerebellar Ataxias [PDF]

Journal of Neuro-Ophthalmology, 2009
Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past 15 years have witnessed a revolution in our understanding of the causes of dominantly inherited ataxias, now known as the spinocerebellar ataxias (SCAs). Nearly 30 distinct genetic causes of SCA are known, numbered chronologically in order of discovery.
openaire   +2 more sources

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

DNA methylation and trinucleotide repeat expansion diseases [PDF]

, 2012
Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core   +1 more source

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation.

Frontiers in Cellular Neuroscience, 2015
Spinocerebellar Ataxia type 6 is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia.
Paola eGiunti, Paola eGiunti, Elide eMantuano, Marina eFrontali, Liana eVeneziano   +4 more
doaj   +1 more source

Epilepsy in spinocerebellar ataxia type 8: a case report

Journal of Medical Case Reports, 2019
Background Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities.
Arun Swaminathan
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