about
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanSMN1 dosage analysis in spinal muscular atrophy from India.A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy.PCB congener specific oxidative stress response by microarray analysis using human liver cell line.Non-invasive optical imaging of muscle pathology in mdx mice using cathepsin caged near-infrared imagingRecessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History StudyMuscular Dystrophy: Disease Mechanisms and TherapiesDysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptomsMolecular diagnosticsGenetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patientsGenotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from IndiaPrenatal diagnosis of spinal muscular atrophy: Indian scenarioY chromosome micro-deletions in idiopathic infertility from Northern IndiaMutation analysis in spinal muscular atrophy using allele-specific polymerase chain reaction
P50
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P50
name
Akanchha Kesari
@en
Akanchha Kesari
@nl
type
label
Akanchha Kesari
@en
Akanchha Kesari
@nl
prefLabel
Akanchha Kesari
@en
Akanchha Kesari
@nl