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Alice Donati

Showing results (81-90 of 117) with videos related to

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Journal of Inherited Metabolic Disease|April 6, 2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapyRenzo Manara, Elena Priante, Marco Grimaldi, et al.
Frontiers in Pharmacology|June 2, 2022
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort StudyFrancesca Gorini, Michele Santoro, Anna Pierini, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 24, 2014
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapyGiancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, et al.
Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.
Internal and Emergency Medicine|March 7, 2023
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensusMaurizio Scarpa, Antonio Barbato, Annalisa Bisconti, et al.
Plos One|August 1, 2019
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53Claudia Brogna, Giorgia Coratt, Marika Pane, et al.
Neurology. Genetics|September 14, 2019
Next-generation sequencing approach to hyperCKemia: A 2-year cohort studyAnna Rubegni, Alessandro Malandrini, Claudia Dosi, et al.
Plos One|June 26, 2019
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53Claudia Brogna, Giorgia Coratti, Marika Pane, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Pageof 12

Showing results (81-90 of 117) with videos related to

Sort By:
Pageof 12
Journal of Inherited Metabolic Disease|April 6, 2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapyRenzo Manara, Elena Priante, Marco Grimaldi, et al.
Frontiers in Pharmacology|June 2, 2022
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort StudyFrancesca Gorini, Michele Santoro, Anna Pierini, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 24, 2014
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapyGiancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, et al.
Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.
Internal and Emergency Medicine|March 7, 2023
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensusMaurizio Scarpa, Antonio Barbato, Annalisa Bisconti, et al.
Plos One|August 1, 2019
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53Claudia Brogna, Giorgia Coratt, Marika Pane, et al.
Neurology. Genetics|September 14, 2019
Next-generation sequencing approach to hyperCKemia: A 2-year cohort studyAnna Rubegni, Alessandro Malandrini, Claudia Dosi, et al.
Plos One|June 26, 2019
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53Claudia Brogna, Giorgia Coratti, Marika Pane, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Pageof 12