Results 71 to 80 of about 42,506 (235)

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype

Tremor and Other Hyperkinetic Movements, 2018
Background: Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities.
Christopher L. Groth, Brian D. Berman
doaj   +1 more source

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]

, 2019
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David, Au, Margaret G, Bai, Renkui, Buckley, David J, Collier, Ashley, Cui, Hong, Diaz, Frank, Gahl, William, Graham, John M, Haude, Katrina, Kim, Jaemin, Lewis, Richard, Mathews, Katherine D, Millian Zamora, Francisca, Otero, Maria G, Panzer, Karin, Pierson, Tyler Mark, Tifft, Cynthia J, Tiongson, Emmanuelle, Toro, Camilo, Turner, Lesley   +20 more
core  

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia. [PDF]

, 2014
An inherited deficiency of the mitochondrial protein frataxin causes Friedreich's ataxia (FRDA); the mechanism by which this deficiency triggers neuro- and cardio-degeneration is unclear.
Cortopassi, Gino, Hayashi, Genki, Newman, John W, Pedersen, Theresa L, Pook, Mark, Shen, Yan   +5 more
core   +1 more source

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

The spino-bulbar-cerebellar pathway: organization and neurochemical properties of spinal cells that project to the lateral reticular nucleus in the rat [PDF]

, 2015
In addition to classical spinocerebellar pathways, the cerebellum receives information from the spinal cord indirectly via spino-bulbar-cerebellar systems. One of the structures in this pathway is the lateral reticular nucleus (LRt).
Huma, Zilli, Maxwell, David J.
core   +2 more sources

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2 [PDF]

, 2018
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease involving the cerebellum and characterized by a typical motor syndrome.
A Durr, A Moriarty, AM Tedesco, AR Giovagnoli, C Brenneis, C Habas, C. Iacobacci, CJ Stoodley, CJ Stoodley, CJ Stoodley, D Milardi, D Wang, E Keren-Happuch, E Storey, EV Evarts, F Pira Le, FA Middleton, FM Krienen, G Allen, G Olivito, G Olivito, G. Olivito, GA Carlesimo, H Spinnler, I Klinke, J Diedrichsen, JA Bernard, JC Raven, JD Schmahmann, JD Schmahmann, JD Schmahmann, JG Borkowsky, JM Kemp, JT Pang, K Bürk, K Iwabuchi, K Kansal, M Dayan, M King, M Monaco, M. Bozzali, M. Cercignani, M. Leggio, M. Lupo, M. Masciullo, M. Molinari, MG Leggio, MP Heuvel van den, P Caffarra, P Trouillas, PM Corsi, R Chopra, R Della Nave, R Estrada, R Fancellu, R Krikorian, RL Buckner, S Clausi, S Gilman, S. Clausi, S. Romano, T Takahashi, Y Kawai, Z Yang   +63 more
core   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Restoration from polyglutamine toxicity after free electron laser irradiation of neuron-like cells [PDF]

, 2019
学位記番号 ...
Mohara, Miho, モハラ, ミホ, 茂原, 美穂   +2 more
core  

High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia [PDF]

, 2010
Background Machado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one of the most common spinocerebellar ataxia (SCA) in the world.
Gan Shi-Rui, Lu Chuan-Zhen, Murong Shen-Xing, Shi Sheng-Sheng, Wang Ning, Weng Sheng-Tong, Wu Jian-Jun, Wu Zhi-Ying, Zhao Gui-Xian   +8 more
core   +1 more source