Variants in DTNA cause a mild, dominantly inherited muscular dystrophy-Reference-Cited by-同舟云学术

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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Published:2023-02-17 Issue:4 Volume:145 Page:479-496
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Nascimento Andres,Bruels Christine C.,Donkervoort Sandra,Foley A. Reghan,Codina Anna,Milisenda Jose C.,Estrella Elicia A.,Li Chengcheng,Pijuan Jordi,Draper Isabelle,Hu Ying,Stafki Seth A.,Pais Lynn S.,Ganesh Vijay S.,O’Donnell-Luria Anne,Syeda Safoora B.,Carrera-García Laura,Expósito-Escudero Jessica,Yubero Delia,Martorell Loreto,Pinal-Fernandez Iago,Lidov Hart G. W.,Mammen Andrew L.,Grau-Junyent Josep M.,Ortez Carlos,Palau Francesc,Ghosh Partha S.,Darras Basil T.,Jou Cristina,Kunkel Louis M.,Hoenicka Janet,Bönnemann Carsten G.,Kang Peter B.^ORCID,Natera-de Benito Daniel^ORCID

Funder

Instituto de Salud Carlos III

Institut de Recerca Sant Joan de Déu

Fundación Isabel Gemio

AGAUR

Torro Solidari-RAC1 i Torrons Vicens

National Institute of Neurological Disorders and Stroke

National Eye Institute

National Human Genome Research Institute

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00401-023-02551-7.pdf

Reference49 articles.

1. Amici DR, Pinal-Fernandez I, Mázala DAG, Lloyd TE, Corse AM, Christopher-Stine L et al (2017) Calcium dysregulation, functional calpainopathy, and endoplasmic reticulum stress in sporadic inclusion body myositis. Acta Neuropathol Commun 5:24. https://doi.org/10.1186/s40478-017-0427-7

2. Belhasan DC, Akaaboune M (2020) The role of the dystrophin glycoprotein complex on the neuromuscular system. Neurosci Lett 722:134833. https://doi.org/10.1016/j.neulet.2020.134833

3. Böhm S, Jin H, Hughes SM, Roberts RG, Hinits Y (2008) Dystrobrevin and dystrophin family gene expression in zebrafish. Gene Expr Patterns 8:71–78. https://doi.org/10.1016/j.modgep.2007.10.004

4. Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA et al (2019) Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Mol Genet Genom Med 7:e552. https://doi.org/10.1002/mgg3.552

5. Cagliani R, Comi GP, Tancredi L, Sironi M, Fortunate F, Giorda R et al (2001) Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscul Disord 11:389–394. https://doi.org/10.1016/S0960-8966(00)00207-8

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