New Horizons on the Diagnosis of Hereditary Ataxia-Reference-Cited by-同舟云学术

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New Horizons on the Diagnosis of Hereditary Ataxia

Published:2023-09-08 Issue:11 Volume:10 Page:1597-1598
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Novis Luiz Eduardo¹,Raskin Salmo²,Teive Helio A.G.³

Affiliation:

1. Neurodegenerative Diseases Group, Post‐Graduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná Curitiba Brazil

2. Postgraduate Program in Child and Adolescent, Department of Pediatrics Federal University of Paraná Curitiba Brazil

3. Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná Curitiba Brazil

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference7 articles.

1. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

2. Expanded encyclopaedias of DNA elements in the human and mouse genomes

3. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

4. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

5. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

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