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Claudio Bruno

Showing results (141-150 of 302) with videos related to

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Biochemical and Biophysical Research Communications|July 31, 2007
Null mutations and lethal congenital form of glycogen storage disease type IVStefania Assereto, Otto P van Diggelen, Luisa Diogo, et al.
Molecular Neurobiology|May 5, 2025
Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual DisabilityChiara Panicucci, Sara Casalini, Giovanni Fiorito, et al.
Archives of Neurology|October 13, 2006
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta Biancheri, Enrico Bertini, Antonio Falace, et al.
European Journal of Medical Genetics|September 5, 2017
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorderGerarda Cappuccio, Marianna Alagia, Mariangela D'Anna, et al.
The Lancet. Neurology|September 18, 2021
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trialEugenio Mercuri, Francesco Muntoni, Giovanni Baranello, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 7, 2008
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitroMonica Traverso, Elisabetta Gazzerro, Stefania Assereto, et al.
Journal of Medicinal Chemistry|December 24, 2011
Synthesis and toxicopharmacological evaluation of m-hydroxymexiletine, the first metabolite of mexiletine more potent than the parent compound on voltage-gated sodium channelsAlessia Catalano, Jean-François Desaphy, Giovanni Lentini, et al.
Biomolecules|October 27, 2022
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular AtrophyFrancesco Errico, Carmen Marino, Manuela Grimaldi, et al.
Biochemical and Biophysical Research Communications|March 15, 2008
Clinical and genetic characterization of Chanarin-Dorfman syndromeClaudio Bruno, Enrico Bertini, Maja Di Rocco, et al.
The American Journal of Clinical Nutrition|March 8, 2020
Predictive energy equations for spinal muscular atrophy type I childrenSimona Bertoli, Ramona De Amicis, Giorgio Bedogni, et al.
Pageof 31

Showing results (141-150 of 302) with videos related to

Sort By:
Pageof 31
Biochemical and Biophysical Research Communications|July 31, 2007
Null mutations and lethal congenital form of glycogen storage disease type IVStefania Assereto, Otto P van Diggelen, Luisa Diogo, et al.
Molecular Neurobiology|May 5, 2025
Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual DisabilityChiara Panicucci, Sara Casalini, Giovanni Fiorito, et al.
Archives of Neurology|October 13, 2006
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta Biancheri, Enrico Bertini, Antonio Falace, et al.
European Journal of Medical Genetics|September 5, 2017
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorderGerarda Cappuccio, Marianna Alagia, Mariangela D'Anna, et al.
The Lancet. Neurology|September 18, 2021
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trialEugenio Mercuri, Francesco Muntoni, Giovanni Baranello, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 7, 2008
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitroMonica Traverso, Elisabetta Gazzerro, Stefania Assereto, et al.
Journal of Medicinal Chemistry|December 24, 2011
Synthesis and toxicopharmacological evaluation of m-hydroxymexiletine, the first metabolite of mexiletine more potent than the parent compound on voltage-gated sodium channelsAlessia Catalano, Jean-François Desaphy, Giovanni Lentini, et al.
Biomolecules|October 27, 2022
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular AtrophyFrancesco Errico, Carmen Marino, Manuela Grimaldi, et al.
Biochemical and Biophysical Research Communications|March 15, 2008
Clinical and genetic characterization of Chanarin-Dorfman syndromeClaudio Bruno, Enrico Bertini, Maja Di Rocco, et al.
The American Journal of Clinical Nutrition|March 8, 2020
Predictive energy equations for spinal muscular atrophy type I childrenSimona Bertoli, Ramona De Amicis, Giorgio Bedogni, et al.
Pageof 31