about
HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Fish consumption, long-chain omega-3 fatty acids and risk of cognitive decline or Alzheimer disease: a complex association.Expression of the dermatomyositis autoantigen transcription intermediary factor 1γ in regenerating muscle.Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaStatin-associated autoimmune myopathy and anti-HMGCR autoantibodies.The spectrum of statin myopathy.Neurophysiology simplified for imagers.Anterior spinal artery syndrome presenting as cervical myelopathy in a patient with subclavian steal syndrome.P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child.Congenital titinopathy: Comprehensive characterisation and pathogenic insights.Anti-HMGCR Myopathy.Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophyExtracellular matrix-driven congenital muscular dystrophiesDominant collagen XII mutations cause a distal myopathyGenetic regulatory variation in populations informs transcriptome analysis in rare diseaseLongitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophiesMSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementLoss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationIdentification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Payam Mohassel
@en
Payam Mohassel
@nl
type
label
Payam Mohassel
@en
Payam Mohassel
@nl
prefLabel
Payam Mohassel
@en
Payam Mohassel
@nl
P31
P496
0000-0001-5313-9514