Results 121 to 130 of about 5,948 (206)

Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7)

, 2008
Aims: The spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7) are clinically characterized by progressive and severe ataxic symptoms, dysarthria, dysphagia, oculomotor impairments, pyramidal and extrapyramidal manifestations and sensory
Sch\uf6ls, L., Rueb, U., de Vos, R. A., Auburger, G., Buerk, K., Brunt, E. R., Van Broeckhoven, C., Deller, T., den Dunnen, W., B\ufcrk, K., R\ufcb, U., Schoels, L., Egensperger, R., Seidel, K., Hoche, F., Brunt, E.R., Bechmann, I., Van Broeckhoven, Christine, Gierga, K., den Dunnen, W.; id_orcid   +19 more
core   +1 more source

Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3

, 2009
Protein cleavage is a common feature in human neurodegenerative disease. Ataxin-3 protein with an expanded polyglutamine (polyQ) repeat causes spinocerebellar ataxia type-3 (SCA3), also called Machado–Joseph disease, and is cleaved in mammalian cells ...
Derek Lessing, Joonil Jung, Kexiang Xu, Nancy M. Bonini   +3 more
core  

The ATXN2 9 bp duplication in SCA3: clarifying evidence and correcting misinterpretations. [PDF]

Acta Neuropathol Commun
Laffita-Mesa JM, Paucar M, Svenningsson P.   +2 more
europepmc   +1 more source

Genotyp-spezifisches Fortschreiten der Atrophie ist sensitiver als klinische Veränderungen bei SCA3 und SCA6

, 2014
Autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of progressive neurodegenerative disorders. SCAs are clinically characterized by mainly cerebellar ataxia, resulting in unsteady gait, clumsiness, and dysarthria and but can ...
Lehmann, Anna
core  

Somatosensory Evoked Potentials in Spinocerebellar Ataxia Type 3 and Type 10. [PDF]

Cerebellum
Coutinho L, Fustes OJH, Camargo CHF, Stoliar GA, Germiniani FMB, Raskin S, Ashizawa T, Kay CSK, Lorenzoni PJ, Ducci RD, Scola RH, Teive HAG.   +11 more
europepmc   +1 more source

Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates

BACKGROUND: Cognitive deficits are common in spinocerebellar ataxia type 3 (SCA3), but their neurobiological correlates remain largely unknown. OBJECTIVES: To investigate cognitive performance in a large international cohort of SCA3 mutation carriers ...
Faber, Jennifer, Santana, Magda M, Giunti, Paola, Reetz, Kathrin, Klockgether, Thomas, de Vries, Jeroen J, Lima, Manuela, Jacobi, Heike, Infante, Jon, van de Warrenburg, Bart PC, Garcia-Moreno, Hector, Bushara, Khalaf, Schöls, Ludger, Hübener-Schmid, Jeannette, Gonzalez, Carlos, Onyike, Chiadi U, Maas, Roderick PPWM, ESMI study group, Erdlenbruch, Friedrich, de Almeida, Luís Pereira   +19 more
core  

Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros

, 2014
Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an ...
Cardoso, Francisco, Santos, André S., Correa Neto, Ylmar, Teive, Hélio G.A., Mello, Luiz R., Radvany, João, Araújo, Abelardo Q.C., Carakushansky, Gerson, Steiner, Carlos E., Jardim, Laura B., Viana, Erika, Maciel, Jaime A., Silveira, Isabel, Lopes-Cendesi, Iscia, Pinto-Júnior, Walter, Werneck, Lineu C., da Costa, Jaderson C., Arruda, Walter O., Trevisol-Bittencourt, Paulo C., Calcagnotto, Maria E, Rosa Neto, Pedro, Rouleau, Guy A.   +21 more
core  

Peripheral and autonomic nervous system involvement in spinocerebellar ataxia type 3: unveiling an invisible burden. [PDF]

J Neurol
Leeuwenberg KE, van Alfen N, van de Warrenburg BP, Maas RPPWM.   +3 more
europepmc   +1 more source

Extracellular vesicles-mediated delivery of SpCas9 RNPs for therapeutic gene editing in Spinocerebellar Ataxia Type 3. [PDF]

Biomaterials
Leandro K, Rufino-Ramos D, Lopes SM, Silva FS, Rodrigues-Santos P, Silva AC, Fernandes AR, Henriques C, Pereira D, Lobo D, Gabriel GL, Faro R, Nobre RJ, Perdigão PRL, Kleinstiver BP, de Almeida LP.   +15 more
europepmc   +1 more source

Polyglutamine-Expanded Ataxin-3 Accelerates CFTR Degradation Through K63-Linked Ubiquitination to Exacerbate Microglial Inflammation. [PDF]

ASN Neuro
Wang Z, Fan X, Bai B, Song M, Shi Y, Zhao Y, Xie P, Shi T, He C, Hu Y, Wu Q, Hou X.   +11 more
europepmc   +1 more source