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2021
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Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
Not available
S-EPMC9545859
|
biostudies-literature
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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Not available
S-EPMC6066920
|
biostudies-literature
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Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.
Not available
S-EPMC6562036
|
biostudies-literature
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Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Not available
S-EPMC7261761
|
biostudies-literature
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Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Not available
S-EPMC10382259
|
biostudies-literature
Cite
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Not available
S-EPMC10834250
|
biostudies-literature
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Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
Not available
S-EPMC9421599
|
biostudies-literature
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Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.
Not available
S-EPMC11822816
|
biostudies-literature
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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Not available
S-EPMC7306402
|
biostudies-literature
Cite
Complementary Predictors for Asthma Attack Prediction in Children: Salivary Microbiome, Serum Inflammatory Mediators, and Past Attack History.
Not available
S-EPMC12862560
|
biostudies-literature
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