Lista de obras - Giuseppe Piscosquito - Dominio Público Uruguay

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

artículo científico publicado en 2016

A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.

artículo científico publicado en 2016

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration ⬇️

artículo científico publicado el 22 de junio de 2011

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

artículo científico publicado en 2015

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

artículo científico publicado en 2014

Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes.

artículo científico publicado en 2014

Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy

artículo científico publicado en 2013

Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment

artículo científico publicado en 2016

Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.

artículo científico

Electromyographic and biomechanical analysis of step negotiation in Charcot Marie Tooth subjects whose level walk is not impaired.

artículo científico publicado en 2018

Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

artículo científico publicado en 2016

Exercise training effects on elderly and middle-age patients with chronic heart failure after acute decompensation: A randomized, controlled trial.

artículo científico publicado en 2016

Generalized anhidrosis as first clinical presentation of systemic lupus erythematosus

artículo científico publicado en 2018

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

artículo científico publicado en 2015

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

artículo científico publicado en 2017

Inherited neuropathies: an update

artículo científico publicado en 2013

Is overwork weakness relevant in Charcot-Marie-Tooth disease?

artículo científico publicado en 2014

Mitochondrial dynamics and inherited peripheral nerve diseases.

artículo científico

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

artículo científico publicado en 2016

Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations

scientific article published on 01 December 2015

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

artículo científico publicado en 2017

Neurofascin-155 as a putative antigen in combined central and peripheral demyelination

artículo científico publicado en 2016

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia

artículo científico publicado en 2015

Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects

scientific article published on 11 June 2018

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

artículo científico publicado en 2014

Peripheral neuropathy in mitochondrial disorders

artículo científico publicado en 2013

Postural stabilization and balance assessment in Charcot-Marie-Tooth 1A subjects

artículo científico publicado en 2014

Prognosis of severe acquired brain injury: Short and long-term outcome determinants and their potential clinical relevance after rehabilitation. A comprehensive approach to analyze cohort studies

artículo científico publicado en 2019

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

artículo científico publicado en 2014

Relative lymphocyte count as an indicator of 3-year mortality in elderly people with severe COPD.

artículo científico publicado en 2018

Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.

artículo científico publicado en 2015

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects

artículo científico

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

artículo científico publicado en 2016

Small fiber pathology parallels disease progression in Parkinson disease: a longitudinal study

artículo científico publicado en 2018

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient

artículo científico publicado en 2015

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 disease

artículo científico publicado en 2015

Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study

scientific article published on 25 September 2019

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation

artículo científico publicado en 2014

Lista de obras de Giuseppe Piscosquito

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration ⬇️

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes.

Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy

Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment

Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.

Electromyographic and biomechanical analysis of step negotiation in Charcot Marie Tooth subjects whose level walk is not impaired.

Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

Exercise training effects on elderly and middle-age patients with chronic heart failure after acute decompensation: A randomized, controlled trial.

Generalized anhidrosis as first clinical presentation of systemic lupus erythematosus

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

Inherited neuropathies: an update

Is overwork weakness relevant in Charcot-Marie-Tooth disease?

Mitochondrial dynamics and inherited peripheral nerve diseases.

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Neurofascin-155 as a putative antigen in combined central and peripheral demyelination

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia

Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Peripheral neuropathy in mitochondrial disorders

Postural stabilization and balance assessment in Charcot-Marie-Tooth 1A subjects

Prognosis of severe acquired brain injury: Short and long-term outcome determinants and their potential clinical relevance after rehabilitation. A comprehensive approach to analyze cohort studies

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

Relative lymphocyte count as an indicator of 3-year mortality in elderly people with severe COPD.

Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

Small fiber pathology parallels disease progression in Parkinson disease: a longitudinal study

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient

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 disease

Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation