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TranscriptomicsComparative profiling in 13 muscle disease groups
Summary: Genetic disorders of muscle cause muscular dystrophy, and are some of the most common inborn errors of metabolism. Muscle also rapidly remodels in response to training and innervation. Muscle weakness and wasting is important in such conditions as aging, critical care medicine, space flig...
ORGANISM(S): Homo sapiens 
2005-10-14 | E-GEOD-3307 | biostudies-arrayexpress
TranscriptomicsComparative profiling in 13 muscle disease groups
Summary: Genetic disorders of muscle cause muscular dystrophy, and are some of the most common inborn errors of metabolism. Muscle also rapidly remodels in response to training and innervation. Muscle weakness and wasting is important in such conditions as aging, critical care medicine, space flight...
ORGANISM(S): Homo sapiens 
2005-10-14 | GSE3307 | GEO
UnknownModeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein.
Not available
S-EPMC3181361 | biostudies-literature
UnknownPreserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy.
Not available
S-EPMC7220237 | biostudies-literature
UnknownDNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.
Not available
S-EPMC4135416 | biostudies-literature
UnknownHigh-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Not available
S-EPMC8895739 | biostudies-literature
UnknownDouble trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.
Not available
S-EPMC12322215 | biostudies-literature
UnknownScapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.
Not available
S-EPMC6851043 | biostudies-literature
ProteomicsLoss of ZBTB24, a novel non-homologous end-joining protein, impairs class-switch recombination in ICF syndrome
The autosomal recessive immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a genetically heterogeneous disorder. Despite recent successes in the identification of the underlying gene defects, it is currently unclear how mutations in any of the four known ICF genes cause...
ORGANISM(S): Homo sapiens (Human) 
2020-08-19 | PXD014741 | Pride
Human Parp1 Zbtb24 
UnknownThe FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
Not available
S-EPMC3791262 | biostudies-literature
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