Results 41 to 50 of about 17,793 (220)
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy
npj Regenerative Medicine, 2022 Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in ...
Rebecca E. Schmitt +8 more
doaj +1 more source
Distal myopathy with ADSSL1 mutations in Korean patients
, 2018 To understand the characteristics of ADSSL1 myopathy, we investigated the clinical manifestation in Korean patients with ADSSL1 mutations. We developed a targeted panel of 16 distal-myopathy genes and recruited a total of 12 patients with genetically ...
박형준, 박기덕
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Journal of Medical Case Reports, 2008 Introduction Cystinosis is a hereditary storage disease resulting in intracellular accumulation of cystine and crystal formation that causes deterioration of the function of many organs.
Müller Marcus +3 more
doaj +1 more source
Neuromuscular disease: 2021 update
Free Neuropathology, 2021 This review highlights ten important advances in the neuromuscular disease field that were first reported in 2020. The overarching topics include (i) advances in understanding of fundamental neuromuscular biology; (ii) new / emerging diseases; (iii ...
Marta Margeta
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
Life Science AllianceThe present study describes a novel pathogenic variant in MFN2 from a patient with late-onset distal myopathy and links pathogenic perturbation of MFN2 function to mitochondrial DNA release and inflammation.
Mashiat Zaman +10 more
doaj +1 more source
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
Case Reports in Neurology, 2014 Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene.
Jantima Tanboon +5 more
doaj +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source