Results 141 to 150 of about 7,196 (214)

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

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

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review). [PDF]

Exp Ther Med, 2023
Peng Y, Tu Q, Han Y, Wan C, Gao L.
europepmc   +1 more source

Myelinating Glia: Potential Therapeutic Targets in Polyglutamine Spinocerebellar Ataxias. [PDF]

Cells, 2023
Putka AF, Mato JP, Mato JP, McLoughlin HS.   +3 more
europepmc   +1 more source

Unveiling the role of cerebellar alterations in the autonomic nervous system: a systematic review of autonomic dysfunction in spinocerebellar ataxias. [PDF]

J Neurol, 2023
Urbini N, Siciliano L, Olivito G, Leggio M.   +3 more
europepmc   +1 more source

Spinocerebellar ataxias: from genotype to phenotype

, 2005
Spinocerebellar ataxias are heterogenic group of hereditary neurodegenerative diseases, characterized by progressive degeneration of Purkinje cells in cerebellum and neurons of the brainstem. This condition causes a broad spectrum of clinical symptoms to
Modestowicz, Michał
core  

Viewpoint: spinocerebellar ataxias as diseases of Purkinje cell dysfunction rather than Purkinje cell loss. [PDF]

Front Mol Neurosci, 2023
Kapfhammer JP, Shimobayashi E.
europepmc   +1 more source

Temporal Dynamics of the Scale for the Assessment and Rating of Ataxia in Spinocerebellar Ataxias. [PDF]

Mov Disord, 2023
Moulaire P, Poulet PE, Petit E, Klockgether T, Durr A, Ashisawa T, Tezenas du Montcel S, READISCA Consortium.   +7 more
europepmc   +1 more source

Scoping Review Protocol: Cognitive Changes in Pre-Ataxic Nucleotide Repeat Expansion Spinocerebellar Ataxias

The objective of this scoping review is to synthesize existing evidence on cognitive changes in individuals with pre-ataxic nucleotide repeat expansion spinocerebellar ataxias (NRE-SCAs), including the types of cognitive impairments identified, the ...
Andressa Aline Vieira, Renata Barreto Tenorio   +1 more
core   +1 more source

Genetic particularities of spinocerebellar ataxias

Introducere. Ataxiile spinocerebeloase (SCA) constituie un grup heterogen de tulburări neurodegenerative ereditare, cauzate de mutaţii în peste 40 de gene.
Ciobanu, Cristina, Rotaru, Ludmila
core