Simultaneous ALS and SCA2 associated with an intermediate-length

Aged Amyotrophic Lateral Sclerosis / genetics Ataxin-2 / genetics Cohort Studies Humans Spinocerebellar Ataxias / genetics Trinucleotide Repeat Expansion / genetics
Risk genetics neurophysiology

Journal

Amyotrophic lateral sclerosis & frontotemporal degeneration
ISSN: 2167-9223
Titre abrégé: Amyotroph Lateral Scler Frontotemporal Degener
Pays: England
ID NLM: 101587185

Informations de publication

Date de publication:
11 2021
Historique:
pubmed: 8 12 2020
medline: 26 11 2021
entrez: 7 12 2020
Statut: ppublish

Résumé

Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) share a common molecular basis: both are associated with CAG-repeat expansion of

Identifiants

DOI: 10.1080/21678421.2020.1853172 PMID: 33284045
pubmed: 33284045
doi: 10.1080/21678421.2020.1853172
doi:

Substances chimiques

ATXN2 protein, human 0
Ataxin-2 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

579-582

Subventions

Organisme : Department of Health
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 216596/Z/19/Z
Pays : United Kingdom

Auteurs

Helia Ghahremani Nezhad (H)

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

John P Franklin (JP)

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

James J P Alix (JJP)

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Department of Clinical Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

Tobias Moll (T)

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

Michael Pattrick (M)

Department of Clinical Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

Johnathan Cooper-Knock (J)

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
ORCID: 0000-0002-0873-8689

Priya Shanmugarajah (P)

Department of Clinical Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

Nick J Beauchamp (NJ)

Sheffield Children's NHS Foundation Trust, Sheffield, UK.

Marios Hadjivissiliou (M)

Department of Clinical Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

David Paling (D)

Department of Clinical Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

Christopher Mcdermott (C)

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Department of Clinical Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.
ORCID: 0000-0002-1269-9053

Pamela J Shaw (PJ)

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Department of Clinical Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.
ORCID: 0000-0002-8925-2567

Thomas M Jenkins (TM)

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Department of Clinical Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Simultaneous ALS and SCA2 associated with an...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › Simultaneous ALS and SCA2 associated with an...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines de liaison au poly(A) › Ataxine-2 › Simultaneous ALS and SCA2 associated with an...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Simultaneous ALS and SCA2 associated with an...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Simultaneous ALS and SCA2 associated with an...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Dégénérescences spinocérébelleuses › Ataxies spinocérébelleuses › Simultaneous ALS and SCA2 associated with an...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Expansion de trinucléotide répété › Simultaneous ALS and SCA2 associated with an...