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Research article

First published 2022-9

Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay

Samar Muslemani, Isabelle Lessard, Caroline Lavoie [...]

Canadian Journal of Occupational Therapy

Open access

Case report

First published 2022

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene

Rohan Sharma, Akilandeswari Aravindhan, Clara Puente [...]

Journal of Investigative Medicine High Impact Case Reports

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Case report

First published 2024-7

Thickened Retinal Nerve Fiber Layer Without Hypermyelination in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Mallory K. Suarez, Timothy J. Martin, Sally S. Ong

Journal of VitreoRetinal Diseases

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Review article

First published 2011-12

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Vinodh Narayanan, Stephen G. Rice, Shannon S. Olfers [...]

Journal of Child Neurology

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Brief report

First published 2001-09

Rapid Detection of the Sacsin Mutations Causing Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Jocelyne Mercier, Claude Prévost, James C. Engert [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2026

Novel homozygous SYNE1 missense variant in late onset autosomal recessive cerebellar ataxia 1: a case report

Igor Selmaj, Nastassja Himmelreich, Krzysztof Selmaj

Therapeutic Advances in Neurological Disorders

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Research article

First published 2021-9

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

Jaehyung Lim, Brian J. Shayota, Erica Lay [...]

Journal of Child Neurology

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Other

First published 2001-10

Multiple Neuroendocrine Disorder in Salla Disease

Salvatore Grosso, Rosario Berardi, Maria Angela Farnetani [...]

Journal of Child Neurology

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Research article

First published 2013-11

Pelizaeus-Merzbacher–Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation

Said Ali Al-Yahyaee, Mohammed Al-Kindi, Peter De Jonghe [...]

Journal of Child Neurology

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Research article

First published 1988-01

Spino-Cerebellar Degeneration With Polyneuropathy Associated With Ceroid Lipofuscinosis in One Family

K.E. Wisniewski, R.E. Madrid, M. Dambska [...]

Journal of Child Neurology

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