Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (<scp>NADGP</scp>) Syndrome with Nocturnal Paroxysmal Head Tremor-Reference-Cited by-同舟云学术

Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome with Nocturnal Paroxysmal Head Tremor

Published:2023-04-20 Issue:5 Volume:10 Page:835-838
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Salari Mehri¹²^ORCID,Etemadifar Masoud³,Neshat Ghalibaf Mostafa⁴^ORCID,Azizi Fatemeh⁴,Davoodi Maryam²⁴,Asadi Sareh⁵

Affiliation:

1. Neurology Department Shahid Beheshti University of Medical Sciences Tehran Iran

2. Department of Neurosurgery, Alzahra University Hospital, Isfahan University of Medical Sciences Isfahan Iran

3. Faculty of Medicine Isfahan University of Medical Science Isfahan Iran

4. Student Research Committee, School of Medicine Shahid Beheshti University of Medical Science Tehran Iran

5. NeuroBiology Research Center, Shahid Beheshti University of Medical Sciences Tehran Iran

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13697

Reference9 articles.

1. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis;Ber I;JAMA Neurol,2013

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

3. Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

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

5. Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates

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