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GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal featuresThe 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boysExpanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children.Expanding the clinical spectrum of POMT1 phenotype.Chronic inflammatory demyelinating polyneuropathy of childhood: clinical and neuroradiological findings.Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.Detection of early nocturnal hypoventilation in neuromuscular disorders.Respiratory pattern in a FSDH paediatric population.Expanding the histopathological spectrum of CFL2-related myopathies.Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience.Respiratory pattern in a FSHD pediatric population.Clinical and molecular consequences of exon 78 deletion in DMD gene.Mutations in GMPPB Presenting with Pseudometabolic Myopathy.Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variabilityA 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen inTele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trialNusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor functionAn observational study of functional abilities in infants, children, and adults with type 1 SMANovel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsNusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Marina Pedemonte
@en
Marina Pedemonte
@nl
type
label
Marina Pedemonte
@en
Marina Pedemonte
@nl
prefLabel
Marina Pedemonte
@en
Marina Pedemonte
@nl
P31
P496
0000-0001-8410-6918