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Claudio Semplicini

Showing results (21-30 of 47) with videos related to

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Neurogenetics|March 1, 2016
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutationsMichelangelo Cao, Marta Donà, M Lucia Valentino, et al.
Neurogenetics|November 12, 2015
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutationsMichelangelo Cao, Marta Donà, M Lucia Valentino, et al.
Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Molecular Genetics and Metabolism|June 27, 2017
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe diseaseConstantinos Papadopoulos, David Orlikowski, Hélène Prigent, et al.
Journal of Inherited Metabolic Disease|June 10, 2020
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe RegistryClaudio Semplicini, Marie De Antonio, Nadjib Taouagh, et al.
Neurology|September 28, 2018
The clinical spectrum of <i>CASQ1</i>-related myopathyClaudio Semplicini, Cinzia Bertolin, Luca Bello, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 28, 2015
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patientsGiorgia Querin, Cinzia Bertolin, Elisa Da Re, et al.
Blood Advances|September 21, 2021
Ablation of collagen VI leads to the release of platelets with altered functionVittorio Abbonante, Cristian Gruppi, Monica Battiston, et al.
Plos One|October 30, 2015
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated CardiomyopathyAndrea Barp, Luca Bello, Luisa Politano, et al.
Journal of Neurology|September 27, 2019
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)Andrea Barp, Pascal Laforet, Luca Bello, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
Neurogenetics|March 1, 2016
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutationsMichelangelo Cao, Marta Donà, M Lucia Valentino, et al.
Neurogenetics|November 12, 2015
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutationsMichelangelo Cao, Marta Donà, M Lucia Valentino, et al.
Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Molecular Genetics and Metabolism|June 27, 2017
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe diseaseConstantinos Papadopoulos, David Orlikowski, Hélène Prigent, et al.
Journal of Inherited Metabolic Disease|June 10, 2020
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe RegistryClaudio Semplicini, Marie De Antonio, Nadjib Taouagh, et al.
Neurology|September 28, 2018
The clinical spectrum of <i>CASQ1</i>-related myopathyClaudio Semplicini, Cinzia Bertolin, Luca Bello, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 28, 2015
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patientsGiorgia Querin, Cinzia Bertolin, Elisa Da Re, et al.
Blood Advances|September 21, 2021
Ablation of collagen VI leads to the release of platelets with altered functionVittorio Abbonante, Cristian Gruppi, Monica Battiston, et al.
Plos One|October 30, 2015
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated CardiomyopathyAndrea Barp, Luca Bello, Luisa Politano, et al.
Journal of Neurology|September 27, 2019
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)Andrea Barp, Pascal Laforet, Luca Bello, et al.
Pageof 5