Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Claudio Bruno

Showing results (191-200 of 302) with videos related to

Pageof 31
Sort By:
Journal of Molecular Neuroscience : MN|April 24, 2016
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian PatientsDaniela Piga, Francesca Magri, Dario Ronchi, et al.
Schizophrenia (Heidelberg, Germany)|April 25, 2026
Blood levels of D-aspartate oxidase, D-amino acid oxidase, serine racemase, and pLG72 are influenced by diagnoses of schizophrenia and autism spectrum disorderElisa Maffioli, Francesco Errico, Zoraide Motta, et al.
Neuromuscular Disorders : NMD|March 28, 2021
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measureValeria A Sansone, Alice Pirola, Andrea Lizio, et al.
Children (Basel, Switzerland)|May 16, 2023
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month StudyClaudia Brogna, Marika Pane, Giorgia Coratti, et al.
The Lancet. Neurology|October 16, 2022
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trialRiccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, et al.
Journal of Inherited Metabolic Disease|May 10, 2012
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patientsDenise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, et al.
Annals of Neurology|August 9, 2007
Phenotypic characterization of hypomyelination and congenital cataractRoberta Biancheri, Federico Zara, Claudio Bruno, et al.
Annals of Neurology|June 23, 2019
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world dataMarika Pane, Giorgia Coratti, Valeria A Sansone, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|April 16, 2026
Vertebral fractures and muscle function in glucocorticoid-treated individuals with Duchenne muscular dystrophy: a cohort studyAnna Capasso, Chiara Arpaia, Chiara Panicucci, 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.
Pageof 31

Showing results (191-200 of 302) with videos related to

Sort By:
Pageof 31
Journal of Molecular Neuroscience : MN|April 24, 2016
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian PatientsDaniela Piga, Francesca Magri, Dario Ronchi, et al.
Schizophrenia (Heidelberg, Germany)|April 25, 2026
Blood levels of D-aspartate oxidase, D-amino acid oxidase, serine racemase, and pLG72 are influenced by diagnoses of schizophrenia and autism spectrum disorderElisa Maffioli, Francesco Errico, Zoraide Motta, et al.
Neuromuscular Disorders : NMD|March 28, 2021
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measureValeria A Sansone, Alice Pirola, Andrea Lizio, et al.
Children (Basel, Switzerland)|May 16, 2023
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month StudyClaudia Brogna, Marika Pane, Giorgia Coratti, et al.
The Lancet. Neurology|October 16, 2022
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trialRiccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, et al.
Journal of Inherited Metabolic Disease|May 10, 2012
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patientsDenise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, et al.
Annals of Neurology|August 9, 2007
Phenotypic characterization of hypomyelination and congenital cataractRoberta Biancheri, Federico Zara, Claudio Bruno, et al.
Annals of Neurology|June 23, 2019
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world dataMarika Pane, Giorgia Coratti, Valeria A Sansone, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|April 16, 2026
Vertebral fractures and muscle function in glucocorticoid-treated individuals with Duchenne muscular dystrophy: a cohort studyAnna Capasso, Chiara Arpaia, Chiara Panicucci, 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.
Pageof 31