MCID: GNT082
MIFTS: 10

Genetic Neuromuscular Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Genetic Neuromuscular Disease

MalaCards integrated aliases for Genetic Neuromuscular Disease:

Name: Genetic Neuromuscular Disease 58 29

Classifications:



External Ids:

Orphanet 58 ORPHA183497

Summaries for Genetic Neuromuscular Disease

MalaCards based summary : Genetic Neuromuscular Disease is related to spinal muscular atrophy, distal, autosomal recessive, 2 and neuromuscular disease. Affiliated tissues include cortex and cerebellum.

Related Diseases for Genetic Neuromuscular Disease

Diseases related to Genetic Neuromuscular Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 2 11.0
2 neuromuscular disease 10.0

Symptoms & Phenotypes for Genetic Neuromuscular Disease

Drugs & Therapeutics for Genetic Neuromuscular Disease

Search Clinical Trials , NIH Clinical Center for Genetic Neuromuscular Disease

Genetic Tests for Genetic Neuromuscular Disease

Genetic tests related to Genetic Neuromuscular Disease:

# Genetic test Affiliating Genes
1 Genetic Neuromuscular Disease 29

Anatomical Context for Genetic Neuromuscular Disease

MalaCards organs/tissues related to Genetic Neuromuscular Disease:

40
Cortex, Cerebellum

Publications for Genetic Neuromuscular Disease

Articles related to Genetic Neuromuscular Disease:

(show all 25)
# Title Authors PMID Year
1
Functional Abnormalities of Cerebellum and Motor Cortex in Spinal Muscular Atrophy Mice. 61
33212215 2021
2
Economic burden of spinal muscular atrophy: an analysis of claims data. 61
33224449 2020
3
[Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy]. 61
33215271 2020
4
Comprehensive analysis of the expression profile of circRNAs and their predicted protein-coding ability in the muscle of mdx mice. 61
31736012 2020
5
Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US. 61
33041673 2020
6
The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine. 61
31661024 2019
7
Comprehensive evaluation of structural and functional myocardial impairments in Becker muscular dystrophy using quantitative cardiac magnetic resonance imaging. 61
30590561 2019
8
The AAA + ATPase TorsinA polymerizes into hollow helical tubes with 8.5 subunits per turn. 61
31332180 2019
9
Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy. 61
30548438 2019
10
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. 61
30423015 2018
11
Severe ketoacidosis in a patient with spinal muscular atrophy. 61
29978296 2018
12
The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon? 61
30019308 2018
13
Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity. 61
29887892 2018
14
Na leak with gating pore properties in hypokalemic periodic paralysis V876E mutant muscle Ca channel. 61
29114033 2017
15
The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version. 61
28164330 2017
16
Advances in the Treatment of Duchenne Muscular Dystrophy: New and Emerging Pharmacotherapies. 61
28152217 2017
17
Pseudouridine Modification Inhibits Muscleblind-like 1 (MBNL1) Binding to CCUG Repeats and Minimally Structured RNA through Reduced RNA Flexibility. 61
28130447 2017
18
Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA. 61
25557785 2015
19
Tracheotomy and children with spinal muscular atrophy type 1: ethical considerations in the French context. 61
22323397 2012
20
Common pathways of autoimmune inflammatory myopathies and genetic neuromuscular disorders. 61
22083460 2012
21
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. 61
19184181 2009
22
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. 61
17355180 2007
23
Analysis of dystrophin gene deletions by multiplex PCR in eastern India. 61
16936400 2006
24
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. 61
16401743 2006
25
Genetic neuromuscular disease. 61
12536154 2002

Variations for Genetic Neuromuscular Disease

Expression for Genetic Neuromuscular Disease

Search GEO for disease gene expression data for Genetic Neuromuscular Disease.

Pathways for Genetic Neuromuscular Disease

GO Terms for Genetic Neuromuscular Disease

Sources for Genetic Neuromuscular Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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