TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia-Reference-Cited by-同舟云学术

TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia

Published:2022-01-04 Issue: Volume: Page:
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Frey Jessica¹^ORCID,Burns Matthew R.¹,Chiu Shannon Y.¹,Wagle Shukla Aparna¹,El Kouzi Ahmad²^ORCID,Jackson Jessica³,Arn Pamela H.⁴,Malaty Irene A.¹^ORCID

Affiliation:

1. Department of Neurology University of Florida Gainesville Florida USA

2. Department of Neurology Southern Illinois University Springfield Illinois USA

3. Department of Clinical Genomics Mayo Clinic Jacksonville Florida USA

4. Department of Pediatrics Nemours Children’s Specialty Care Jacksonville Florida USA

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13400

Reference10 articles.

1. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

2. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

3. Dystonic Pseudo Foot Drop

4. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

5. Clinical presentation and proteomic signature of patients with TANGO2 mutations

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1. Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders;Movement Disorders;2024-08-09

2. Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study;American Journal of Medical Genetics Part A;2023-07-08

3. Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease;Neuromuscular Disorders;2023-06