Homozygous sequestosome 1 (

Age of Onset Cerebellar Ataxia / etiology Child Eye Movements Female Homozygote Humans Mutation Prognosis Sequestosome-1 Protein / genetics Supranuclear Palsy, Progressive / etiology Exome Sequencing
Ataxia NGS SQSTM1 eye movement abnormalities p62 sequestosome 1 vertical gaze palsy

Journal

Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057

Informations de publication

Date de publication:
08 2019
Historique:
pubmed: 17 9 2019
medline: 12 5 2020
entrez: 17 9 2019
Statut: ppublish

Résumé

Mutations in sequestosome 1 (

Identifiants

DOI: 10.1080/13816810.2019.1666414 PMID: 31525130
pubmed: 31525130
doi: 10.1080/13816810.2019.1666414
doi:

Substances chimiques

SQSTM1 protein, human 0
Sequestosome-1 Protein 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

376-379

Auteurs

Veena Vedartham (V)

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology , Trivandrum , India.

Soumya Sundaram (S)

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology , Trivandrum , India.

Sruthi S Nair (SS)

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology , Trivandrum , India.
ORCID: 0000-0001-5463-5229

Aparna Ganapathy (A)

Department of Clinical Genomics, Strand Center for Genomics and Personalized Medicine , Bangalore , India.

Ashraf Mannan (A)

Department of Clinical Genomics, Strand Center for Genomics and Personalized Medicine , Bangalore , India.

Ramshekhar Menon (R)

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology , Trivandrum , India.

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Classifications MeSH

Recherchemedicale.com › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs âges › Âge de début › Homozygous sequestosome 1 (
Recherchemedicale.com › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › Ataxie cérébelleuse › Homozygous sequestosome 1 (
Recherchemedicale.com › Personnes › Tranches d'âge › Enfant › Homozygous sequestosome 1 (
Recherchemedicale.com › Phénomènes physiologiques oculaires › Mouvements oculaires › Homozygous sequestosome 1 (
Recherchemedicale.com › Phénomènes génétiques › Génotype › Homozygote › Homozygous sequestosome 1 (
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Homozygous sequestosome 1 (
Recherchemedicale.com › Phénomènes génétiques › Variation génétique › Mutation › Homozygous sequestosome 1 (
Recherchemedicale.com › Diagnostic › Pronostic › Homozygous sequestosome 1 (
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines adaptatrices de la transduction du signal › Séquestosome-1 › Homozygous sequestosome 1 (
Recherchemedicale.com › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Paralysie › Ophtalmoplégie › Paralysie supranucléaire progressive › Homozygous sequestosome 1 (
Recherchemedicale.com › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Homozygous sequestosome 1 (