New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to


Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
08 May 2024
Historique:
received: 05 04 2024
revised: 06 05 2024
accepted: 07 05 2024
medline: 25 5 2024
pubmed: 25 5 2024
entrez: 25 5 2024
Statut: epublish

Résumé

Movement disorders such as bradykinesia, tremor, dystonia, chorea, and myoclonus most often arise in several neurodegenerative diseases with basal ganglia and white matter involvement. While the pathophysiology of these disorders remains incompletely understood, dysfunction of the basal ganglia and related brain regions is often implicated. The

Identifiants

pubmed: 38791166
pii: ijms25105127
doi: 10.3390/ijms25105127
pii:
doi:

Substances chimiques

VPS13D protein, human 0
Vesicular Transport Proteins 0
Proteins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Denis Kistol (D)

Research Centre for Medical Genetics, 115522 Moscow, Russia.

Polina Tsygankova (P)

Research Centre for Medical Genetics, 115522 Moscow, Russia.

Fatima Bostanova (F)

Research Centre for Medical Genetics, 115522 Moscow, Russia.

Maria Orlova (M)

Research Centre for Medical Genetics, 115522 Moscow, Russia.

Ekaterina Zakharova (E)

Research Centre for Medical Genetics, 115522 Moscow, Russia.

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Classifications MeSH