Very late‐onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type-Reference-Cited by-同舟云学术

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Very late‐onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

Published:2005-08-09 Issue:12 Volume:20 Page:1643-1645
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov. Disord.

Author:

Berciano José¹²,Infante Jon¹²,García Antonio¹²,Polo José Miguel¹,Volpini Victor³,Combarros Onofre¹²

Affiliation:

1. Department of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain

2. Department of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain

3. Department of Neurogenetics, Institut de Recerca Oncologica, Barcelona, Spain

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.20644

Reference12 articles.

1. Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

2. Friedreich's ataxia. Revision of the phenotype according to molecular genetics

3. Very Late-Onset Friedreich Ataxia Despite Large GAA Triplet Repeat Expansions

4. Consensus statement on the diagnosis of multiple system atrophy

5. Movement disorders III 1994 Butterworth‐Heineman Boston N Quinn CD Marsden S Fahn Multiple system atrophy 262 281

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3. Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing;Brain;2022-10-13

4. Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients;Frontiers in Neurology;2021-12-09

5. Autosomal recessive adult onset ataxia;Journal of Neurology;2021-09-09

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