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Claudio Bruno

Showing results (231-240 of 302) with videos related to

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Eclinicalmedicine|May 17, 2023
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesMarika Pane, Beatrice Berti, Anna Capasso, et al.
BMJ Open|January 7, 2016
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National RegistryAna Nikolic, Giulia Ricci, Francesco Sera, et al.
Elife|September 20, 2021
SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samplesEmanuela Abiusi, Paola Infante, Cinzia Cagnoli, et al.
Eclinicalmedicine|May 21, 2026
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational studyGianpaolo Cicala, Anna Capasso, Marianna Villa, et al.
Neuropathology and Applied Neurobiology|July 29, 2022
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatmentChiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, et al.
Journal of Neuromuscular Diseases|September 18, 2025
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20Giorgia Coratti, Marika Pane, Sophia Paolucci, et al.
Muscle & Nerve|May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosisFrancesca Magri, Vincenzo Nigro, Corrado Angelini, et al.
European Journal of Neurology|March 7, 2023
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar functionMarika Pane, Giorgia Coratti, Valeria A Sansone, 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 31

Showing results (231-240 of 302) with videos related to

Sort By:
Pageof 31
Eclinicalmedicine|May 17, 2023
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesMarika Pane, Beatrice Berti, Anna Capasso, et al.
BMJ Open|January 7, 2016
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National RegistryAna Nikolic, Giulia Ricci, Francesco Sera, et al.
Elife|September 20, 2021
SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samplesEmanuela Abiusi, Paola Infante, Cinzia Cagnoli, et al.
Eclinicalmedicine|May 21, 2026
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational studyGianpaolo Cicala, Anna Capasso, Marianna Villa, et al.
Neuropathology and Applied Neurobiology|July 29, 2022
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatmentChiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, et al.
Journal of Neuromuscular Diseases|September 18, 2025
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20Giorgia Coratti, Marika Pane, Sophia Paolucci, et al.
Muscle & Nerve|May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosisFrancesca Magri, Vincenzo Nigro, Corrado Angelini, et al.
European Journal of Neurology|March 7, 2023
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar functionMarika Pane, Giorgia Coratti, Valeria A Sansone, 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 31