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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 2025-7

Hereditary pontine and extrapontine brain malformations in Brazilian Tabapuã cattle

Lucas da Costa Dutra, Sara Vilar Dantas Simões, Ricardo Barbosa de Lucena [...]

Veterinary Pathology

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Case report

First published 2018-8

“Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report

Krishnan Nagarajan, Elango Swamiappan, Sathiaprabhu Anbazhagan [...]

Interventional Neuroradiology

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Other

First published 2003-11

Vermian Hypoplasia and Arrested Cerebral Myelination in Two Sisters: Variant of Joubert's Syndrome or a New Syndrome?

William DeMyer, Alberto Espay, Laurence Walsh [...]

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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Research article

First published 2002

Clinical,Genetic and Histopathologic Findings in Two Siblings with Muscle-Eye-Brain Disease

A. Zervos, K.E. Hunt, H.-Q. Tong [...]

European Journal of Ophthalmology

Open access

Research article

First published 2024

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy

Cornelia Enzmann, Leonie Steiner, Katarzyna Pospieszny [...]

Journal of Neuromuscular Diseases

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

Hereditary pontine and extrapontine brain malformations in Brazilian Tabapuã cattle

“Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report

Vermian Hypoplasia and Arrested Cerebral Myelination in Two Sisters: Variant of Joubert's Syndrome or a New Syndrome?

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

Clinical,Genetic and Histopathologic Findings in Two Siblings with Muscle-Eye-Brain Disease

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy