Results 141 to 150 of about 15,463 (269)

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. [PDF]

Am J Hum Genet, 2023
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A.   +71 more
europepmc   +1 more source

Gene suppression strategies for dominantly inherited neurodegenerative diseases: lessons from Huntington's disease and spinocerebellar ataxia [PDF]

, 2015
Megan S. Keiser, Holly Kordasiewicz, Jodi L. McBride   +2 more
openalex   +1 more source

Flow cytometry allows rapid detection of protein aggregates in cell culture and zebrafish models of spinocerebellar ataxia-3 [PDF]

, 2021
Katherine J. Robinson, Madelaine C. Tym, Alison Hogan, Maxinne Watchon, Kristy C. Yuan, Stuart K. Plenderleith, Emily K. Don, Angela S. Laird   +7 more
openalex   +1 more source

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus [PDF]

, 2002
BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions.
Alonso, I, Barbot, C, Barros, J, Coelho, J, Ferreirinha, F, Ferro, A, Guimarães, L, Januário, C, Mendonça, P, Miranda, C, Moreira, MC, Pinto-Basto, J, Poirier, J, Silveira, I, Tuna, A, Vale, J   +15 more
core  

Comparative genome analysis in rodent models of Parkinson’s disease and spinocerebellar ataxia type 3

, 2019
Nivretta Thatra
openalex   +2 more sources

Depleção do DNA mitocondrial (mtDNA) em leucócitos de doentes com doença Machado-Joseph : um estudo piloto [PDF]

, 2015
Dissertação de Mestrado, Ciências Biomédicas, 5 de Outubro de 2015, Universidade dos Açores.A doença de Machado-Joseph (DMJ), também denominada por ataxia espinocerebelosa do tipo 3 (SCA3; OMIM 109150; ORPHA 98757) é uma doença neurodegenerativa ...
Teixeira, Balbina Maria Morais
core  

Comment on: “The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review” [PDF]

, 2019
Rana Hanna Al‐Shaikh, Zbigniew K. Wszołek   +1 more
openalex   +1 more source

Zebrafish Models of Rare Neurological Diseases like Spinocerebellar Ataxias (SCAs): Advantages and Limitations. [PDF]

Biology (Basel), 2023
Sarasamma S, Karim A, Orengo JP.
europepmc   +1 more source

The “Hot Cross Bun Sign” in Spinocerebellar Ataxia Types 2 and 7–Case Reports and Review of Literature

, 2022
Ansuya Kasavelu Naidoo, Cait‐Lynn Deanne Wells, Yashvir Rugbeer, Neil Naidoo   +3 more
openalex   +1 more source

Experimental neurotransplantation treatment for hereditary cerebellar ataxias [PDF]

, 2016
Jan Cendelin
core   +1 more source