Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum-Reference-Cited by-同舟云学术

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Published:2013 Issue:1 Volume:8 Page:41
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Synofzik Matthis,Soehn Anne S,Gburek-Augustat Janina,Schicks Julia,Karle Kathrin N,Schüle Rebecca,Haack Tobias B,Schöning Martin,Biskup Saskia,Rudnik-Schöneborn Sabine,Senderek Jan,Hoffmann Karl-Titus,MacLeod Patrick,Schwarz Johannes,Bender Benjamin,Krüger Stefan,Kreuz Friedmar,Bauer Peter,Schöls Ludger

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference23 articles.

1. Characteristic MRI and funduscopic findings help diagnose ARSACS outside Quebec

2. New findings in the ataxia of Charlevoix–Saguenay

3. A phenotype without spasticity in sacsin-related ataxia

4. Mutations in SACS cause atypical and late-onset forms of ARSACS

5. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

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1. First case of Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the Middle east;2024-09-02

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4. Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity;International Journal of Molecular Sciences;2024-06-09

5. Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX);Movement Disorders;2024-06-07