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Article

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Nature genetics - 1 Sept 2004

Ferland Russell J, Eyaid Wafaa, Collura Randall V, Tully Laura D, Hill R Sean, Al-Nouri Doha, Al-Rumayyan Ahmed, Topcu Meral, Gascon Generoso, Bodell Adria, Shugart Yin Yao, Ruvolo Maryellen, Walsh Christopher A

Abstract excerpt

Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioral...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15322546
DOI: 10.1038/ng1419

Genes

AHI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.PMID 15322546Read ↗

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.Semantic proximity Read ↗

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.Semantic proximity Read ↗

Genetic basis of Joubert syndrome and related disorders of cerebellar developmentSemantic proximity Read ↗

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.Semantic proximity Read ↗

Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.Semantic proximity Read ↗

Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in miceSemantic proximity Read ↗

A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.Semantic proximity Read ↗

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.Semantic proximity Read ↗

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.Semantic proximity Read ↗

Association of common variants in the Joubert syndrome gene (AHI1) with autism.Semantic proximity Read ↗

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.Semantic proximity Read ↗

Clinical Nosologic and Genetic Aspects of Joubert and Related SyndromesSemantic proximity Read ↗

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