Neuromuscular disorders

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Unknown (2864)
Transcriptomics (134)
Genomics (64)
Proteomics (27)
Metabolomics (4)
Genomic (2)
Methylation profiling (2)
Other (1)

Organisms

Homo sapiens (59)
Mus musculus (48)
Chlamydomonas reinhardtii (19)
Pseudomonas canadensis (19)
Marchantia polymorpha subsp. ruderalis (19)
Methylocystis sp. (19)
Exiguobacterium sp. SH31 (19)
Porites pukoensis (19)
Bothrops insularis (19)
Bothrops jararaca (19)
Bothrops jararacussu (19)
Bothrops cotiara (19)
Acinetobacter baumannii ATCC 19606 = CIP 70.34 = JCM 6841 (19)
Dinosauria (19)
Streptomyces coelicolor (19)
Drosophila melanogaster (14)
Rattus norvegicus (7)
Arabidopsis thaliana (4)
Sus scrofa (3)
Apis mellifera (2)
Danio rerio (2)
Caenorhabditis elegans (2)
Hypomesus transpacificus (1)
Colinus virginianus (1)
Pimephales promelas (1)
Neisseria meningitidis (1)
Campylobacter jejuni (1)
Bos taurus (1)
Oryza sativa Japonica Group (1)
synthetic construct (1)

Organisms

Homo sapiens (21)
Mus musculus (14)
Caenorhabditis elegans (2)
Rattus norvegicus (2)
Drosophila melanogaster (1)

Repository

biostudies-arrayexpress (112)
ENA (56)
geo (29)
pride (19)
EGA (6)
MassIVE (4)
MetaboLights (4)
dbGaP (2)
iProX (1)
jPOST (1)

Tissue

Skeletal muscle (3)
Skeletal muscle fiber (2)
Fibroblast (2)
Cell culture (2)
Skeletal muscle tissue (1)
Smooth muscle (1)
Gastrocnemius (1)
Muscle cell (1)
Quadriceps (1)
JURKAT cell (1)
Skin (1)
Muscle (1)
Brain (1)
Obsolete lymphoblast (1)
Whole body (1)
Skeletal muscle cell (1)
Liver (1)
Monocyte (1)
Blood (1)

Disease

Normal (2)
Myopathy (2)
Spinal muscular atrophy (1)
Leukemia (1)
Spinal muscular atrophy (NCI Metathesaurus C0026847) has DiseaseStaging postsymptomatic (1)
Idiopathic dilated cardiomyopathy (1)
Healthy (1)
Myofibrillar myopathy (1)
Becker muscular dystrophy (1)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (1)
Congenital myopathy (1)
Duchenne muscular dystrophy (1)

Technology Type

Mass Spectrometry (19)
Shotgun proteomics (10)
Bottom-up proteomics (6)
Mass spectrometry (3)
Data-independent acquisition (2)
Data-dependent acquisition (2)
Affinity purification coupled with mass spectrometry proteomics (2)
Illumina HiSeq 2000 (1)
Mass spectrometry assay (1)
SWATH MS (1)

Instrument Platform

Illumina HiSeq 2500 (3)
Ion Torrent Proton (2)
NextSeq 2000 (2)
Illumina HiSeq 2000 (2)
Illumina HiSeq 4000 (2)
ProFlex PCR system (1)
ArrayWoRx Multi-Format Reader [Applied Precision] (1)
Maxwell 16 (1)
Illumina NovaSeq X (1)
LTQ Orbitrap (Thermo Fisher Scientific) (1)
Synapt G2 MS (1)
Q Exactive Plus (1)
Orbitrap Fusion Lumos (1)
5975C Series GC/MSD (Agilent) (1)
Liquid Chromatography MS - positive (1)
Liquid Chromatography MS - positive - reverse-phase (1)
Liquid Chromatography MS - negative - reverse-phase (1)
Liquid Chromatography MS - positive - reverse phase (1)
Liquid Chromatography MS - negative - reverse phase (1)

Publication Date

2010 (28)
2012 (14)
2008 (12)
2025 (10)
2024 (10)
2026 (8)
2022 (8)
2019 (8)
2014 (8)
2013 (8)
2016 (7)
2015 (7)
2009 (6)
2020 (5)
2007 (5)
2023 (5)
2017 (4)
2011 (4)
2021 (3)
2018 (3)
2005 (3)
2006 (2)
2004 (1)

CHEBI ID

CHEBI:27823 (2)
CHEBI:22194 (1)
CHEBI:24287 (1)
CHEBI:133632 (1)
CHEBI:133639 (1)
CHEBI:133627 (1)
CHEBI:718061 (1)
CHEBI:131364 (1)
CHEBI:33980 (1)
CHEBI:32321 (1)
CHEBI:48294 (1)
CHEBI:133083 (1)
CHEBI:133634 (1)
CHEBI:18367 (1)
CHEBI:41609 (1)
CHEBI:33954 (1)
CHEBI:1230 (1)
CHEBI:69188 (1)
CHEBI:16796 (1)
CHEBI:34117 (1)
CHEBI:28824 (1)
CHEBI:27440 (1)
CHEBI:28941 (1)
CHEBI:89519 (1)
CHEBI:28623 (1)
CHEBI:77468 (1)
CHEBI:133638 (1)
CHEBI:133637 (1)
CHEBI:18394 (1)
CHEBI:17108 (1)

Metabolite Name

2,6-Di-Tert-Butyl-1,4-Benzoquinone (2)
2-Phenylethylamine (2)
Indoline (2)
Atractylenolide I (2)
Coniferaldehyde (2)
Lauryldiethanolamine (2)
Dicumarol (2)
Ile-Trp (2)
1-Monomyristin (2)
Curcumol (2)
N-Acetylcadaverine (2)
Trigonelline (2)
Betaine (2)
Prolylproline (2)
L-Aspartyl-L-Phenylalanine (2)
4-Hydroxypyridine (2)
Loliolide (2)
Lumichrome (2)
Cytarabine (2)
Piperidine (2)
Curdione (2)
Serotonin (2)
Coumarin (2)
Indole (2)
Isoquinoline (2)
Choline (2)
N-Acetylputrescine (2)
Histamine (2)
Guanine (2)
Cytosine (2)

First Public Date

2024 (9)
2025 (8)
2014 (6)
2023 (5)
2019 (5)
2026 (4)
2022 (4)
2016 (4)
2021 (3)
2018 (3)
2017 (2)
2013 (2)
2020 (1)

Study type

Transcription profiling by array (66)
RNA-seq of coding RNA (16)
RNA-seq of non coding RNA (12)
Comparative genomic hybridization by array (8)
Transcription profiling by RT-PCR (2)
Proteomic profiling by array (2)
Unknown experiment type (1)
High-throughput sequencing (1)
Animal - High-throughput sequencing (1)
MicroRNA profiling by high throughput sequencing (1)
Spatial transcriptomics by high-throughput sequencing (1)
RNA-seq of coding RNA from single cells (1)

Release Date

2025 (335)
2021 (321)
2024 (319)
2023 (296)
2022 (282)
2020 (247)
2019 (185)
2018 (174)
2017 (137)
2016 (127)
2015 (108)
2014 (105)
2013 (60)
2010 (52)
2012 (47)
2026 (44)
2011 (41)
2009 (28)
2008 (26)
2007 (21)
2004 (4)
2001 (4)
2006 (3)
2005 (3)
2002 (3)
2003 (2)
1999 (1)

Lab affiliation

Bioanalytics, Leibnizinstitut für analytische Wissenschaften-ISAS-e.V., Germany (2)
Project Leader „Tissue Proteomics“ Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V. Otto-Hahn-Str.6b 44227 Dortmund, Germany (1)
Ruhr Universität Bochum Medizinisches Proteom-Center Zentrum für Proteindiagnostik (ProDi) (1)
Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, Victoria 3052 Australia (1)
Max Planck Institute of Biochemistry Am Klopferspitz 18, 82152 Planegg (1)
Leibniz – Institut für Analytische Wissenschaften - ISAS - e.V., Otto-Hahn-Str.6b 44227 Dortmund, Germany phone: +49 231 1392-4143 fax: +49 231 1392-4850 http://www.isas.de (1)
Équipe Labellisée Ligue 2015, Département de Biologie Structurale Intégrative, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258/CNRS UMR 7104/Université de Strasbourg, 1 rue Laurent Fries, BP 10142, F-67404 Illkirch, France (1)
Unidade Proteômica, Departamento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro; Laboratório de Proteômica (LabProt), LADETEC, Instituto de Química, Universidade Federal do Rio de Janeiro; Centro de Pesquisa em Medicina de Precisão, Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro (1)
Leibniz Institute on Aging, Fritz Lipmann Institute, Beutenbergstrasse 11, 07745 Jena, Germany (1)
Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum, 44801 Bochum, Germany Medical Proteome Analysis, Center for Proteindiagnostics (PRODI), Ruhr-University Bochum, 44801 Bochum, Germany (1)
UniCamillus (1)
Research Group on Neuromuscular and Mitochondrial Disorders, Vall d’Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Catalonia (1)
Harry Perkins Institute of Medical Research, Centre for Medical Research, The University of Western Australia, Nedlands, WA, 6009, Australia (1)
Montpellier University, INSERM, CNRS, PhyMedExp, Montpellier, France (1)
School of life science and technology, Southeast University, China (1)
Department of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen, 45147 Essen, Germany (1)
Department of Neurochemistry, NIMHANS, No. 2900, Hosur Road, Bangalore-560029, Karnataka, India (1)
Proteomics, Leibniz-Institut für analytische Wissenschaften -ISAS - e.V., Germany (1)

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MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.

Not available

S-EPMC5678293 | biostudies-literature

COVID-19 in children with neuromuscular disorders.

Not available

S-EPMC7775833 | biostudies-literature

"Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders.

Not available

S-EPMC5271579 | biostudies-literature

Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review.

Not available

S-EPMC5345641 | biostudies-literature

Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.

Not available

S-EPMC7902972 | biostudies-literature

Transcription profiling of mouse neuromuscular junction laser dissected at various time points vs. normal

NMJ Junction various time points normal C57BL10 LCM mRNA

ORGANISM(S): Mus musculus

2008-06-12 | E-GEOD-2394 | biostudies-arrayexpress

Transcriptome analysis of neuromuscular junction during degeneration and regeneration of axon terminal

The neuromuscular junction (NMJ) is a specialized tripartite synapse composed of the motor axon terminal, covered by perisynaptic Schwann cells (PSCs), and the muscle fibre, separated by a basal lamina. It is exposed to different kind of injures such as mechanical traumas, pathogens including neurot...

ORGANISM(S): Mus musculus

2017-05-30 | E-MTAB-5730 | biostudies-arrayexpress

Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice.

Not available

S-EPMC2958302 | biostudies-literature

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.

Not available

S-EPMC8615674 | biostudies-literature

Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.

Not available

S-EPMC10357215 | biostudies-literature