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Research article

First published 2023-10

Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical,Neurodevelopmental,and Imaging Insight From 19 Extremely Premature Patients

Audrey Riquet, François Quesque, Marie-Laure Charkaluk [...]

Journal of Child Neurology

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Research article

First published 2014-4

Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2

Roberta Battini, Stefano D’Arrigo, Denise Cassandrini [...]

Journal of Child Neurology

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Other

First published 2010-11

Autopsy Case of Later-Onset Pontocerebellar Hypoplasia Type 1: Pontine Atrophy and Pyramidal Tract Involvement

Masafumi Sanefuji, Ryutaro Kira, Kenichi Matsumoto [...]

Journal of Child Neurology

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Research article

First published 2013-3

The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients

Fatma Mujgan Sonmez, Joseph G. Gleeson, Figen Celep [...]

Journal of Child Neurology

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Case report

First published 2026

Fetal Expression of Pontocerebellar Hypoplasia Linked to Pathogenic COASY Variants

Cassandre Garnier, Charles Mégier, Grégoire Dumery [...]

Pediatric and Developmental Pathology

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Other

First published 2002-02

Pontocerebellar Hypoplasia Type 2 and Reye-Like Syndrome

Anna Sans-Fitó, Jaime Campistol-Plana, Maria José Mas-Salguero [...]

Journal of Child Neurology

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Other

First published 2002-01

Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features

Embiya Dilber, Fatma Müjgan Aynaci, Ali Ahmetoglu

Journal of Child Neurology

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Other

First published 2011-3

Pontocerebellar Hypoplasia: Review of Classification and Genetics,and Exclusion of Several Genes Known to Be Important for Cerebellar Development

Stephen M. Maricich, Kaashif A. Aqeeb, Yalda Moayedi [...]

Journal of Child Neurology

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Research article

First published 2003-03

Pontocerebellar Hypoplasia Type 1: New Leads for an Earlier Diagnosis

Michael S. Salman, Susan Blaser, J. Raymond Buncic [...]

Journal of Child Neurology

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Other

First published 1996-05

Lissencephaly With Pontocerebellar Hypoplasia

Saad A. Al Shawan, George W. Bruyn, Saleh M. Al Deeb

Journal of Child Neurology

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