Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis Pigmentosa.

Regensburger, Martin; Minakaki, Georgia; Kettwig, Matthias; Huchzermeyer, Cord; Eisenhut, Felix; Haack, Tobias B; Kohl, Zacharias; Winkler, Jürgen

Regensburger, Martin; Minakaki, Georgia; Kettwig, Matthias; Huchzermeyer, Cord; Eisenhut, Felix; Haack, Tobias B; Kohl, Zacharias; Winkler, Jürgen.

Afiliación

Regensburger M; Department of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Minakaki G; Department of Neurology, FAU, Erlangen, Germany.
Kettwig M; Department of Stem Cell Biology, FAU, Erlangen, Germany.
Huchzermeyer C; Department of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Eisenhut F; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany.
Haack TB; Department of Ophthalmology, FAU, Erlangen, Germany.
Kohl Z; Department of Neuroradiology, FAU, Erlangen, Germany.
Winkler J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Mov Disord ; 35(7): 1280-1282, 2020 07.

Article en En | MEDLINE | ID: mdl-32421885

Asunto(s)

Retinitis Pigmentosa; Ataxia/genética; Catepsina D; Humanos; Linaje; Retinitis Pigmentosa/genética

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google