Results 31 to 40 of about 42,506 (235)

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]

, 2018
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico, Coarelli, Giulia, Ferraldeschi, Michela, Fornasiero, Arianna, Frontali, Marina, Nicita, Francesco, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Spadaro, Maria, Travaglini, Lorena   +10 more
core   +1 more source

Trehalose alleviates the phenotype of Machado–Joseph disease mouse models [PDF]

, 2020
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration.
Cavadas, Cláudia, Cunha-Santos, Janete, Gaspar, Laetitia S., Greif, Hagar, Nobre, Rui Jorge, Nóbrega, Clévio, Paixão, Susana, Pereira de Almeida, Luís, Santana, Magda M., Silva, Teresa Pereira, Trevino-Garcia, Allyson   +10 more
core   +1 more source

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

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

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
core   +2 more sources

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

ATM deficiency results in accumulation of DNA-Topoisomerase I covalent intermediates in neural cells [PDF]

, 2013
Accumulation of peptide-linked DNA breaks contributes to neurodegeration in humans. This is typified by defects in tyrosyl DNA phosphodiesterase 1 (TDP1) and human hereditary ataxia.
Alagoz, Meryem, Chiang, Shih-Chieh, El-Khamisy, Sherif F, Sharma, Abhishek   +3 more
core   +2 more sources

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

DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1 [PDF]

, 2007
DNA single-strand breaks (SSBs) are the commonest DNA lesions arising spontaneously in cells, and if not repaired may block transcription or may be converted into potentially lethal/clastogenic DNA double-strand breaks (DSBs).
Arnaudeau, Avemann, Barzilai, Bendixen, Caldecott, Caldecott, Cheng, Chrencik, Christiansen, Clements, Connelly, Culmsee, Daroui, Date, Davies, Davies, Davies, de Boer, Deng, D’Arpa, El-Khamisy, Flangas, Furuta, Godthelp, Hinz, Holm, Horwitz, Hsiang, Inamdar, Interthal, Interthal, Interthal, K.W. Caldecott, Kroeger, Lanza, Lesher, Liao, Lindahl, Liu, Mol, Moreira, Morris, Nitiss, Nouspikel, O’Driscoll, Parsons, Plo, Pommier, Pommier, Pommier, Poot, Pouliot, Pouliot, Pourquier, Pourquier, Pourquier, Pourquier, Pourquier, Rideout, Ryan, Ryan, S.F. El-Khamisy, Sarkander, Sarkander, Shao, Stewart, Strumberg, Takashima, Taylor, Thompson, van Waardenburg, Vance, Vidal, Vierck, Wang, Whitehouse, Wilson, Wu, Wu, Yan, Yang, Zhou, Zhou   +82 more
core   +1 more source

DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
core   +1 more source