about
Pediatric Guillain-Barré syndromeInterventions for the prevention and treatment of pes cavusMutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationNemaline myopathy: a clinical study of 143 casesCurrent therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders.A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.Determinants of reduced health-related quality of life in pediatric inherited neuropathies.Clinical course correlates poorly with muscle pathology in nemaline myopathy.Ataluren treatment of patients with nonsense mutation dystrophinopathy.Dietary L-tyrosine supplementation in nemaline myopathy.Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A.Acute ataxia in childhood.Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: prevalence and predictorsUnraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.Pediatric sciatic neuropathies: a 30-year prospective study.Hereditary peripheral neuropathies of childhood.Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy.Guillain-Barré syndrome in childhood.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsCritical illness polyneuropathy and myopathy in pediatric intensive care: A review.Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against.Inherited myopathies and muscular dystrophies.Natural history of pulmonary function in collagen VI-related myopathiesJuvenile polymyositis or paediatric muscular dystrophy: a detailed re-analysis of 13 cases.Spontaneous intracranial hypotension in childhood: a case report and review of the literature.Demyelinating prenatal and infantile developmental neuropathies.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Neuromuscular complications of intensive care.A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.Neurologic Melioidosis: Case Report of a Rare Cause of Acute Flaccid Paralysis.A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Describing nutrition in spinal muscular atrophy: A systematic review.'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1.Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Monique Ryan
@ast
Monique Ryan
@en
Monique Ryan
@es
Monique Ryan
@nl
Monique Ryan
@sl
type
label
Monique Ryan
@ast
Monique Ryan
@en
Monique Ryan
@es
Monique Ryan
@nl
Monique Ryan
@sl
prefLabel
Monique Ryan
@ast
Monique Ryan
@en
Monique Ryan
@es
Monique Ryan
@nl
Monique Ryan
@sl
P106
P21
P2798
P31
P496
0000-0001-6397-1910