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Francesca Magri

Showing results (141-150 of 174) with videos related to

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European Journal of Human Genetics : EJHG|July 19, 2023
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathyDario Ronchi, Manuela Garbellini, Francesca Magri, 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.
Plos One|July 29, 2022
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular DystrophyGiorgia Coratti, Jacopo Lenkowicz, Giulia Norcia, et al.
Human Mutation|November 13, 2007
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri, Francesca Magri, Maria Grazia D'Angelo, et al.
Neuromuscular Disorders : NMD|March 28, 2021
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophyClaudia Brogna, Giorgia Coratti, Rachele Rossi, et al.
Neurology|February 6, 2015
Prevalence of congenital muscular dystrophy in Italy: a population studyAlessandra Graziano, Flaviana Bianco, Adele D'Amico, et al.
Neuromuscular Disorders : NMD|June 9, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseMarco Savarese, Annalaura Torella, Olimpia Musumeci, et al.
International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.
Journal of Neurology|May 5, 2022
Genetic modifiers of upper limb function in Duchenne muscular dystrophyDaniele Sabbatini, Aurora Fusto, Sara Vianello, et al.
Genes|October 31, 2018
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsTeresa Giugliano, Marco Savarese, Arcomaria Garofalo, et al.
Pageof 18

Showing results (141-150 of 174) with videos related to

Sort By:
Pageof 18
European Journal of Human Genetics : EJHG|July 19, 2023
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathyDario Ronchi, Manuela Garbellini, Francesca Magri, 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.
Plos One|July 29, 2022
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular DystrophyGiorgia Coratti, Jacopo Lenkowicz, Giulia Norcia, et al.
Human Mutation|November 13, 2007
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri, Francesca Magri, Maria Grazia D'Angelo, et al.
Neuromuscular Disorders : NMD|March 28, 2021
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophyClaudia Brogna, Giorgia Coratti, Rachele Rossi, et al.
Neurology|February 6, 2015
Prevalence of congenital muscular dystrophy in Italy: a population studyAlessandra Graziano, Flaviana Bianco, Adele D'Amico, et al.
Neuromuscular Disorders : NMD|June 9, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseMarco Savarese, Annalaura Torella, Olimpia Musumeci, et al.
International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.
Journal of Neurology|May 5, 2022
Genetic modifiers of upper limb function in Duchenne muscular dystrophyDaniele Sabbatini, Aurora Fusto, Sara Vianello, et al.
Genes|October 31, 2018
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsTeresa Giugliano, Marco Savarese, Arcomaria Garofalo, et al.
Pageof 18