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

Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.

BMC neurology - 15 Mar 2024

Doody Amy, Alfano Lindsay, Diaz-Manera Jordi, Lowes Linda, Mozaffar Tahseen, Mathews Katherine D, Weihl Conrad C, Wicklund Matthew, Hung Man, Statland Jeffrey, Johnson Nicholas E

Abstract excerpt

BACKGROUND: The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome assessments across the group of disorders. METHODS/DESIGN: The primary goal of this study is to evaluate the utility of a set of outcome measures on a wide range of LGMD...

Read the complete abstract on PubMed

Topics

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

Share to Anoctamins
Share to HSP40 Heat-Shock Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Chaperones

Share to Muscle, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

Share to Nerve Tissue Proteins

Share to Pentosyltransferases

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 38491364
DOI: 10.1186/s12883-024-03588-1
PMCID: PMC10941356

Genes

ANO5
CAPN3
DNAJB6
DYSF
FKRP
SGCA
SGCB
SGCD
SGCG

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.PMID 38491364Read ↗

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD studySemantic proximity Read ↗

The Limb-Girdle Muscular DystrophiesSemantic proximity Read ↗

A Journey with LGMD: From Protein Abnormalities to Patient Impact.Semantic proximity Read ↗

The Limb-Girdle Muscular Dystrophies.Semantic proximity Read ↗

Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies.Semantic proximity Read ↗

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular DystrophySemantic proximity Read ↗

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.Semantic proximity Read ↗

Limb-girdle muscular dystrophy in childhood.Semantic proximity Read ↗

Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies.Semantic proximity Read ↗

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.Semantic proximity Read ↗

LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.Semantic proximity Read ↗

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region.Semantic proximity Read ↗

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