Results 51 to 60 of about 114,557 (289)

DNA strand break repair and neurodegeneration. [PDF]

, 2013
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham, Ahel, Alano, Alderton, Alter, Barbi, Barlow, Barnes, Bayatti, Bendixen, Bohr, Bootsma, Breslin, Brown, Buck, Buis, Caldecott, Caldecott, Caldecott, Cantoni, Chappell, Clements, Cortes Ledesma, Date, de Boer, de Boer, de Klein, de Vries, Delaval, Derheimer, Donahue, Durocher, El-Khamisy, El-Khamisy, El-Khamisy, Eliasson, Fattah, Frank, Frank, Frappart, Gao, Gao, Gatz, Goodship, Griffith, Gruber, Gueven, Henning, Hoeijmakers, Hoeijmakers, Jackson, Jeggo, Jilani, Kathe, Katyal, Keith W. Caldecott, Koch, Kuzminov, Lakin, Lakshmipathy, LaMonica, Le Ber, Lee, Lee, Lee, Lehmann, Letinic, Li, Licht, Lieber, Lindahl, Ljungman, Ljungman, Loizou, Luo, Mallery, Mao, Matsuura, Mayne, McKinnon, McKinnon, Mellon, Mischo, Mitchell, Moreira, Moreira, Moreno-Herrero, Morris, Moynahan, Mu, Murai, Murai, Murga, Nakane, Nance, Nilsen, Nussenzweig, Ogi, Okano, Orii, Osterod, Ouyang, O’Driscoll, O’Driscoll, O’Driscoll, Paula-Barbosa, Paull, Puebla-Osorio, Resnick, Revet, Reynolds, Reynolds, Rouse, Sanai, Schumacher, Shechter, Shen, Shiloh, Shull, Sidman, Skourti-Stathaki, Sleeth, Sonoda, Stefanini, Stewart, Stiff, Stuart L. Rulten, Sugasawa, Syljuasen, Takashima, Taylor, Tebbs, Theunissen, Thorslund, Uziel, van der Burg, van der Horst, Varon, Verhagen, Vinters, Virag, Vrouwe, Waltes, Weeda, Weterings, Whitehouse, Williams, Williams, Xu, Yu, Yu, Yuce, Zecevic, Zecevic, Zhou, Zhou, Zhu, Zou   +157 more
core   +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

Novel mutation in exon11 of PRKCG (SCA14): A case report

Frontiers in Genetics, 2023
Introduction:PRKCG mutations have been implicated in the pathogenesis of spinocerebellar ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar degeneration, dysarthria, and nystagmus.
Rong Sun, Xiang Tang, Xueqin Cao, Xinyu Shao, Hong Sun   +4 more
doaj   +1 more source

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]

, 2008
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
Bezprozvanny, I, Chen, X, Hammer, R, Nelson, O, Nukina, N, Pook, M, Tang, TS, Tu, H   +7 more
core   +1 more source

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

Clinical and Translational Medicine
Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75% of such patients remain without a genetic diagnosis.
D. Pellerin, Matt C. Danzi, M. Renaud, H. Houlden, M. Synofzik, S. Zuchner, B. Brais   +6 more
semanticscholar   +1 more source

Brainstem and striatal volume changes are detectable in under 1 year and predict motor decline in spinocerebellar ataxia type 1

Brain Communications, 2020
Spinocerebellar ataxia type 1 is a progressive neurodegenerative, movement disorder. With potential therapies on the horizon, it is critical to identify biomarkers that (i) differentiate between unaffected and spinocerebellar ataxia Type 1-affected ...
T. Koscik, Lauren Sloat, E. van der Plas, J. Joers, D. Deelchand, C. Lenglet, G. Öz, P. Nopoulos   +7 more
semanticscholar   +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

Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4

Movement Disorders
Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant ataxia with invariable sensory neuropathy originally described in a family with Swedish ancestry residing in Utah more than 25 years ago.
Zhongbo Chen, Emil K. Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, Clarissa Rocca, Eleanor Self, Pilar Álvarez Jerez, A. Scardamaglia, D. Pellerin, Kylie Montgomery, Jasmaine Lee, Delia Gagliardi, Huihui Luo, J. Hardy, J. Polke, Andrew B. Singleton, C. Blauwendraat, K. Mathews, A. Tucci, Ying-Hui Fu, H. Houlden, M. Ryten, L. Ptáček   +23 more
semanticscholar   +1 more source

Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers. [PDF]

PLoS ONE, 2009
BACKGROUND: Motor deficits are a critical component of the clinical characteristics of patients with spinocerebellar ataxia type 2. However, there is no current information on the preclinical manifestation of those motor deficits in presymptomatic gene ...
Luis Velázquez-Perez, Rosalinda Díaz, Ruth Pérez-González, Nalia Canales, Roberto Rodríguez-Labrada, Jacquelín Medrano, Gilberto Sánchez, Luis Almaguer-Mederos, Cira Torres, Juan Fernandez-Ruiz   +9 more
doaj   +1 more source

mGlu1 Receptors Monopolize the Synaptic Control of Cerebellar Purkinje Cells by Epigenetically Down-Regulating mGlu5 Receptors [PDF]

, 2018
In cerebellar Purkinje cells (PCs) type-1 metabotropic glutamate (mGlu1) receptors play a key role in motor learning and drive the refinement of synaptic innervation during postnatal development.
Atsu Aiba, Cristina Zappulla, Ferdinando Nicoletti, Francesca Liberatore, Giada Mascio, Giorgio Carmignoto, Giuseppe Battaglia, Harumi Nakao, Marta Motolese, Masahiko Watanabe, Micaela Zonta, Michele Madonna, Milena Cannella, Pamela Scarselli, Roberto Gradini, Serena Notartomaso, Valeria Bruno   +16 more
core   +2 more sources