about
Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis.A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.Postural stabilization and balance assessment in Charcot-Marie-Tooth 1A subjectsCMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth diseaseGenotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Neurofascin-155 as a putative antigen in combined central and peripheral demyelinationMutations in noncoding regions of GJB1 are a major cause of X-linked CMT.Peripheral neuropathy in mitochondrial disorders.Inherited neuropathies: an update.Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes.Mitochondrial dynamics and inherited peripheral nerve diseases.Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects.Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy.Is overwork weakness relevant in Charcot-Marie-Tooth disease?A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.Electromyographic and biomechanical analysis of step negotiation in Charcot Marie Tooth subjects whose level walk is not impaired.Exercise training effects on elderly and middle-age patients with chronic heart failure after acute decompensation: A randomized, controlled trial.Relative lymphocyte count as an indicator of 3-year mortality in elderly people with severe COPD.Generalized anhidrosis as first clinical presentation of systemic lupus erythematosusMutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutationsHereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsySmall fiber pathology parallels disease progression in Parkinson disease: a longitudinal studySpinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patientMonitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic areaOutcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjectsErratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic areaPrognosis of severe acquired brain injury: Short and long-term outcome determinants and their potential clinical relevance after rehabilitation. A comprehensive approach to analyze cohort studiesTreadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study
P50
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P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Giuseppe Piscosquito
@ast
Giuseppe Piscosquito
@en
Giuseppe Piscosquito
@es
Giuseppe Piscosquito
@nl
Giuseppe Piscosquito
@sl
type
label
Giuseppe Piscosquito
@ast
Giuseppe Piscosquito
@en
Giuseppe Piscosquito
@es
Giuseppe Piscosquito
@nl
Giuseppe Piscosquito
@sl
prefLabel
Giuseppe Piscosquito
@ast
Giuseppe Piscosquito
@en
Giuseppe Piscosquito
@es
Giuseppe Piscosquito
@nl
Giuseppe Piscosquito
@sl
P1053
A-9053-2018
P106
P21
P31
P3829
P496
0000-0001-6768-8936