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Francesco Fortunato

Showing results (81-90 of 120) with videos related to

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Skeletal Muscle|September 29, 2022
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature reviewFrancesca Magri, Sara Antognozzi, Michela Ripolone, et al.
Neurobiology of Aging|September 25, 2007
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutationAnna Bersano, Roberto Del Bo, Costanza Lamperti, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|September 9, 2020
Limb girdle muscular dystrophy due to <i>LAMA2</i> gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosisFrancesca Magri, Roberta Brusa, Luca Bello, et al.
Neuromuscular Disorders : NMD|June 30, 2012
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsFrancesca Magri, Roberto Del Bo, Maria Grazia D'Angelo, et al.
BMC Medical Genetics|March 15, 2011
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingFrancesca Magri, Roberto Del Bo, Maria G D'Angelo, et al.
Journal of Cachexia, Sarcopenia and Muscle|October 2, 2025
Immunoproteasome Inhibition Positively Impacts the Gut-Muscle Axis in Duchenne Muscular DystrophyAndrea Farini, Francesco Strati, Monica Molinaro, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patientsSimona Zanotti, Francesca Magri, Sabrina Salani, et al.
American Journal of Human Genetics|May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiencyAlessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.
Cellular and Molecular Gastroenterology and Hepatology|November 25, 2021
TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro ModelsMiriam Longo, Marica Meroni, Erika Paolini, et al.
Journal of the Neurological Sciences|November 15, 2024
Distinguishing seizures in autoimmune limbic encephalitis from mesial temporal lobe epilepsy with hippocampal sclerosis: Clues of a temporal plus networkAlessandra Morano, Emanuele Cerulli Irelli, Francesco Fortunato, et al.
Pageof 12

Showing results (81-90 of 120) with videos related to

Sort By:
Pageof 12
Skeletal Muscle|September 29, 2022
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature reviewFrancesca Magri, Sara Antognozzi, Michela Ripolone, et al.
Neurobiology of Aging|September 25, 2007
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutationAnna Bersano, Roberto Del Bo, Costanza Lamperti, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|September 9, 2020
Limb girdle muscular dystrophy due to <i>LAMA2</i> gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosisFrancesca Magri, Roberta Brusa, Luca Bello, et al.
Neuromuscular Disorders : NMD|June 30, 2012
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsFrancesca Magri, Roberto Del Bo, Maria Grazia D'Angelo, et al.
BMC Medical Genetics|March 15, 2011
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingFrancesca Magri, Roberto Del Bo, Maria G D'Angelo, et al.
Journal of Cachexia, Sarcopenia and Muscle|October 2, 2025
Immunoproteasome Inhibition Positively Impacts the Gut-Muscle Axis in Duchenne Muscular DystrophyAndrea Farini, Francesco Strati, Monica Molinaro, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patientsSimona Zanotti, Francesca Magri, Sabrina Salani, et al.
American Journal of Human Genetics|May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiencyAlessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.
Cellular and Molecular Gastroenterology and Hepatology|November 25, 2021
TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro ModelsMiriam Longo, Marica Meroni, Erika Paolini, et al.
Journal of the Neurological Sciences|November 15, 2024
Distinguishing seizures in autoimmune limbic encephalitis from mesial temporal lobe epilepsy with hippocampal sclerosis: Clues of a temporal plus networkAlessandra Morano, Emanuele Cerulli Irelli, Francesco Fortunato, et al.
Pageof 12