about
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.Expanding the phenotype of GMPPB mutations.Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.Impact of Hyperglycemia in the Outcome of Patients with Primary Neuromuscular Respiratory Failure.A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spineMyoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsAltered myogenesis and premature senescence underlie human TRIM32-related myopathyCauses and outcomes of acute neuromuscular respiratory failureUsefulness of pulmonary function tests and blood gases in acute neuromuscular respiratory failureCystinosis distal myopathy, novel clinical, pathological and genetic featuresTargeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceA homozygous UBA5 pathogenic variant causes a fatal congenital neuropathyNOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decayA novel MYH7 founder mutation causing Laing distal myopathy in Southern SpainPOGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Macarena Cabrera Serrano
@en
Macarena Cabrera Serrano
@nl
type
label
Macarena Cabrera Serrano
@en
Macarena Cabrera Serrano
@nl
prefLabel
Macarena Cabrera Serrano
@en
Macarena Cabrera Serrano
@nl
P31
P496
0000-0003-3109-6095