Dystonia as Presenting Feature of Compound Heterozygous <scp>PMPCA</scp> Gene Variants-Reference-Cited by-同舟云学术

Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants

Published:2023-04-27 Issue:6 Volume:10 Page:1020-1023
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

De Santis Tiziana¹^ORCID,Serpieri Valentina²,Biagini Tommaso³,Lanotte Michele⁴,Criffò Carlotta⁵,Mazza Tommaso³,Valente Enza Maria²⁵^ORCID,Albanese Alberto¹^ORCID

Affiliation:

1. Department of Neurology IRCCS Humanitas Research Hospital Rozzano, Milan Italy

2. Neurogenetics Research Center IRCCS Mondino Foundation Pavia Italy

3. Laboratory of Bioinformatics IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy

4. Functional Neurosurgery, Department of Neuroscience University of Turin Torino Italy

5. Department of Molecular Medicine University of Pavia Pavia Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference10 articles.

1. Isolated and combined dystonia syndromes - an update on new genes and their phenotypes

2. Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

3. PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

4. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

5. Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

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