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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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Other

First published 2009-10

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

Kym M. Boycott, Carsten Bonnemann, Joachim Herz [...]

Journal of Child Neurology

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Research article

First published 1989-07

Autosomal Recessive Cerebellar Hypoplasia

Katherine D. Mathews, Adel K. Afifi, James W. Hanson

Journal of Child Neurology

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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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Research article

First published 2012-2

Childhood Ataxia with Cerebral Hypomyelination Syndrome: A Variant of Patient with Early Childhood Onset Related to EIF 2 B 3 Mutation

F. Perfetto, L.P. Stoppino, A. Calì [...]

The Neuroradiology Journal

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Other

First published 2006-04

Gillespie Syndrome: Two Further Cases

Kirsten A. Donald, Rhianne Grotte, Antony C. Crutchley [...]

Journal of Child Neurology

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Research article

First published 2020-2

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

Andrea Accogli, Judith St-Onge, Nassima Addour-Boudrahem [...]

Journal of Child Neurology

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Other

First published 2005-06

Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia

Muhammad Mahajnah, Lina Basel-Vanagaite, Dov Inbar [...]

Journal of Child Neurology

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Other

First published 2005-06

Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia

Muhammad Mahajnah, Lina Basel-Vanagaite, Dov Inbar [...]

Journal of Child Neurology

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Other

First published 2008-08

Ataxia With Oculomotor Apraxia Type 1 (AOA1): Clinical and Neuropsychological Features in 2 New Patients and Differential Diagnosis

Stefano D'Arrigo, Daria Riva, Sara Bulgheroni [...]

Journal of Child Neurology

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