Retinal Phenotyping of a Murine Model of Lafora Disease.

Mice Animals Lafora Disease / genetics Disease Models, Animal Retina / pathology Myoclonic Epilepsies, Progressive / pathology Electroretinography
EPM2A Lafora Lafora body disorder disease electroretinography gene knock outs optical coherence tomography periodic acid Schiff reaction phenotype

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
31 03 2023
Historique:
received: 07 02 2023
revised: 24 03 2023
accepted: 27 03 2023
medline: 1 5 2023
pubmed: 28 4 2023
entrez: 28 4 2023
Statut: epublish

Résumé

Lafora disease (LD) is a progressive neurologic disorder caused by biallelic pathogenic variants in

Identifiants

DOI: 10.3390/genes14040854 PMID: 37107612 PMC: PMC10137594
pubmed: 37107612
pii: genes14040854
doi: 10.3390/genes14040854
pmc: PMC10137594
pii:
doi:

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Ajoy Vincent (A)

Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada.
ORCID: 0000-0001-6446-3846

Kashif Ahmed (K)

Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

Rowaida Hussein (R)

Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

Zorana Berberovic (Z)

The Center for Phenogenomics, Toronto, ON M5T 3H7, Canada.

Anupreet Tumber (A)

Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Xiaochu Zhao (X)

Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
ORCID: 0000-0002-0875-3133

Berge A Minassian (BA)

Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Retinal Phenotyping of a Murine Model of...
questionsmedicales.fr › Eucaryotes › Animaux › Retinal Phenotyping of a Murine Model of...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Maladie de Lafora › Retinal Phenotyping of a Murine Model of...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Retinal Phenotyping of a Murine Model of...
questionsmedicales.fr › Organes des sens › Oeil › Rétine › Retinal Phenotyping of a Murine Model of...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Syndromes épileptiques › Épilepsies myocloniques › Épilepsies myocloniques progressives › Retinal Phenotyping of a Murine Model of...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Électrorétinographie › Retinal Phenotyping of a Murine Model of...