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

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.

Advances in experimental medicine and biology - 1 Jan 2017

Thompson Rachel, Robertson Agata, Lochmüller Hanns

Abstract excerpt

Inherited neuromuscular diseases (NMDs) are genetic disorders that affect the skeletal muscles or the nerves controlling muscle function. With a new generation of diagnostic options and recent advances in translational research improving the opportunities for therapy development for these rare conditions, capturing patient information in databases collecting a range of clinical and genetic data together with...

Read the complete abstract on PubMed

Topics

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

Share to Clinical Trials as Topic
Share to Databases, Factual

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics

Share to Neuromuscular Diseases

Share to Prognosis

Share to Rare Diseases

Share to Registries

Share to Research Design

Source

Identifiers

PMID: 29214567
DOI: 10.1007/978-3-319-67144-4_5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.PMID 29214567Read ↗

The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research.Semantic proximity Read ↗

The LORIS MyeliNeuroGene Rare Disease Database for Natural History Studies and Clinical Trial ReadinessSemantic proximity Read ↗

Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach.Semantic proximity Read ↗

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.Semantic proximity Read ↗

Databases for neurogenetics: introduction, overview, and challenges.Semantic proximity Read ↗

Integration of Real-World Data and Genetics to Support Target Identification and Validation.Semantic proximity Read ↗

Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseasesSemantic proximity Read ↗

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.Semantic proximity Read ↗

The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)Semantic proximity Read ↗

The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome)Semantic proximity Read ↗

The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome)Semantic proximity Read ↗

The Italian National Registry for FSHD: An Enhanced Data Integration and an Analytics Framework Towards Smart Health Care and Precision Medicine for a Rare DiseaseSemantic proximity Read ↗

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