Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.

Neurology - 10 Nov 2009

Messina S, Tortorella G, Concolino D, Spanò M, D'Amico A, Bruno C, Santorelli F M, Mercuri E, Bertini E

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Cerebellar Diseases
Share to Child
Share to Dystroglycans

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Epilepsy

Share to Infant

Share to Muscular Dystrophies, Limb-Girdle

Share to Phenotype

Source

Identifiers

PMID: 19901254
DOI: 10.1212/WNL.0b013e3181c0d47a

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.PMID 19901254Read ↗

Dystroglycan induced muscular dystrophies - a review.Semantic proximity Read ↗

Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.Semantic proximity Read ↗

Congenital muscular dystrophies.Semantic proximity Read ↗

[Genes of alpha-dystroglycanopathies in 2016].Semantic proximity Read ↗

Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.Semantic proximity Read ↗

Childhood dystonia.Semantic proximity Read ↗

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.Semantic proximity Read ↗

Child Neurology: Genetically determined dystonias with childhood onset.Semantic proximity Read ↗

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.Semantic proximity Read ↗

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.Semantic proximity Read ↗

Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.Semantic proximity Read ↗

Unusual α-synuclein and cerebellar pathologies in a case of hereditary myoclonus-dystonia without SGCE mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.