Claudio Semplicini

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 46 publications

ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment.

ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment.

Journal: Journal of neuromuscular diseases

Published: May 24, 2024

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Journal: Current issues in molecular biology

Published: March 02, 2023

Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis.

Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis.

Journal: Autophagy

Published: July 20, 2022

Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.

Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.

Journal: Disease models & mechanisms

Published: January 28, 2022

Ablation of collagen VI leads to the release of platelets with altered function.

Ablation of collagen VI leads to the release of platelets with altered function.

Journal: Blood advances

Published: January 26, 2021

Stroke management during the coronavirus disease 2019 (COVID-19) pandemic: experience from three regions of the north east of Italy (Veneto, Friuli-Venezia-Giulia, Trentino-Alto-Adige).

Stroke management during the coronavirus disease 2019 (COVID-19) pandemic: experience from three regions of the north east of Italy (Veneto, Friuli-Venezia-Giulia, Trentino-Alto-Adige).

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: October 21, 2020

Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.

Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.

Journal: European journal of neurology

Published: July 04, 2020

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

Journal: Brain : a journal of neurology

Published: March 15, 2020

Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.

Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.

Journal: Journal of inherited metabolic disease

Published: March 05, 2020

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.

Journal: Annals of internal medicine

Published: September 03, 2019

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Journal: Journal of neurology

Published: July 19, 2019

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Journal: Advances in therapy

Published: January 19, 2019

Showing 1-12 of 46

Last Updated: 09/26/2026