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O Musumeci

Showing results (11-20 of 39) with videos related to

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Journal of Neuromuscular Diseases|November 19, 2016
Intracranial Arterial Abnormalities in Patients with Late-Onset Pompe DiseaseF Montagnese, F Granata, O Musumeci, et al.
Journal of Neurology|October 15, 2025
Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trialA Martinuzzi, O Musumeci, C Stefan, et al.
Neuromuscular Disorders : NMD|August 22, 2006
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activationC Rodolico, A Mazzeo, A Toscano, et al.
Neuromuscular Disorders : NMD|January 29, 2025
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD)M Porcino, O Musumeci, C Usbergo, et al.
Journal of the Neurological Sciences|October 16, 2007
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiencyS Corti, A Bordoni, D Ronchi, et al.
American Journal of Human Genetics|April 25, 2000
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathyO Musumeci, A L Andreu, S Shanske, et al.
Hormone Research|December 7, 2007
Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genesM F Messina, M Aguennouz, T Arrigo, et al.
Clinical Genetics|January 29, 2016
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3E Barca, O Musumeci, F Montagnese, et al.
Journal of Neurology|February 13, 2015
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatmentFederica Montagnese, E Barca, O Musumeci, et al.
European Journal of Neurology|October 13, 2018
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysisO Musumeci, S Marino, F Granata, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Journal of Neuromuscular Diseases|November 19, 2016
Intracranial Arterial Abnormalities in Patients with Late-Onset Pompe DiseaseF Montagnese, F Granata, O Musumeci, et al.
Journal of Neurology|October 15, 2025
Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trialA Martinuzzi, O Musumeci, C Stefan, et al.
Neuromuscular Disorders : NMD|August 22, 2006
Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activationC Rodolico, A Mazzeo, A Toscano, et al.
Neuromuscular Disorders : NMD|January 29, 2025
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD)M Porcino, O Musumeci, C Usbergo, et al.
Journal of the Neurological Sciences|October 16, 2007
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiencyS Corti, A Bordoni, D Ronchi, et al.
American Journal of Human Genetics|April 25, 2000
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathyO Musumeci, A L Andreu, S Shanske, et al.
Hormone Research|December 7, 2007
Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genesM F Messina, M Aguennouz, T Arrigo, et al.
Clinical Genetics|January 29, 2016
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3E Barca, O Musumeci, F Montagnese, et al.
Journal of Neurology|February 13, 2015
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatmentFederica Montagnese, E Barca, O Musumeci, et al.
European Journal of Neurology|October 13, 2018
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysisO Musumeci, S Marino, F Granata, et al.
Pageof 4