SQSTM1 mutation: Description of the first Tunisian case and literature review-Reference-Cited by-同舟云学术

SQSTM1 mutation: Description of the first Tunisian case and literature review

Published:2020-11-02 Issue:12 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Akkari M.¹^ORCID,Kraoua I.¹^ORCID,Klaa H.¹,Benrhouma H.¹,Ben Younes T.¹,Rouissi A.¹,Chaabouni M.²,Ben Youssef‐Turki I.¹

Affiliation:

1. LR18SP04, Department of Child and Adolescent Neurology University of Tunis El ManarNational Institute Mongi Ben Hmida of Neurology Tunis Tunisia

2. Laboratory of Medical Analyzes and Human Genetics Jasmins Medical Center Tunis Tunisia

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1543

Reference12 articles.

1. Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

2. p62/SQSTM1 functions as a signaling hub and an autophagy adaptor

3. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis;Le Ber I.;JAMA Neurology,2013

4. Clinical and Cellular Phenotypes Associated With Sequestosome 1 (SQSTM1) Mutations

5. Autophagy receptor defects and ALS‐FTLD;Majcher V.;Molecular and Cellular Neurosciences,2015

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