Results 71 to 80 of about 114,557 (289)

Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice

International Journal of Genomics, 2018
Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ...
Zhe Long, Tianjiao Li, Zhao Chen, Yun Peng, Chunrong Wang, Xiaocan Hou, Hongyu Yuan, Puzhi Wang, Yue Xie, Lang He, Xin Zhou, Huirong Peng, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang   +15 more
doaj   +1 more source

Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report

Heliyon, 2021
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with progressive course, and no causal therapy. Diagnostics are still challenging, due to facility and protocols, and so as in Indonesia. As a national referral center, Dr.
Siti Aminah, Fathul Huda, Uni Gamayani, Iin Pusparini, Mochammad Faisal Afif Mochyadin, Yunia Sribudiani, Norlinah Mohamed Ibrahim, Tri Hanggono Achmad   +7 more
doaj   +1 more source

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

Spinocerebellar ataxia: an update

Journal of Neurology, 2018
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on the recent clinical and scientific progresses in SCA where numerous novel genes have been ...
Roisin Sullivan, W. Y. Yau, Emer O’connor, H. Houlden   +3 more
semanticscholar   +1 more source

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings

Annals of Indian Academy of Neurology, 2013
Spinocerebellar ataxia 17 (SCA17) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cerebellar ataxia in combination with variable neurological symptoms.
Jin Zhang, Weihong Gu, Ying Hao, Yuanyuan Chen   +3 more
doaj   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +1 more source

TDP2 promotes repair of topoisomerase I-mediated DNA damage in the absence of TDP1 [PDF]

, 2012
The abortive activity of topoisomerases can result in clastogenic and/or lethal DNA damage in which the topoisomerase is covalently linked to the 3'- or 5'-terminus of a DNA strand break. This type of DNA damage is implicated in chromosome translocations
Abhishek Sharma, Barthelmes, Danny Huylebroeck, Davies, Davies, El-Khamisy, El-Khamisy, El-Khamisy, El-Khamisy, Esguerra, Giovanella, Hirano, Hudson, Interthal, Interthal, Junko Murai, Katyal, Keith W. Caldecott, Ledesma, Liesbeth Vermeire, Lieve Umans, Limei Ju, Murai, Nitiss, Pommier, Pommier, Pype, Sherif F. El-Khamisy, Shunichi Takeda, Takashima, Varady, Vilotti, Yang, Yves Pommier, Zeng, Zhihong Zeng, Zhou   +36 more
core   +1 more source

Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders

Annals of Neurology, EarlyView.
Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall, Marios Hadjivassiliou, David S. Sanders, Kevin Teh, Alberto M. Biancardi, Nick Trott, Nigel Hoggard   +6 more
wiley   +1 more source