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Chiara Fiorillo

Showing results (71-80 of 142) with videos related to

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Aging|February 22, 2021
Functional analysis of <i>POLD1</i> p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacityMichela Murdocca, Paola Spitalieri, Claudia De Masi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 17, 2018
Italian recommendations for diagnosis and management of congenital myasthenic syndromesLorenzo Maggi, Pia Bernasconi, Adele D'Amico, et al.
Biochemical and Biophysical Research Communications|November 14, 2012
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 geneChiara Fiorillo, Giacomo Brisca, Denise Cassandrini, et al.
International Journal of Molecular Sciences|January 23, 2024
Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 MutationsPatrizia Benzoni, Elisabetta Gazzerro, Chiara Fiorillo, et al.
The Journal of Physiology|May 5, 2025
Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractilityJenni Laitila, Christopher T A Lewis, Anthony L Hessel, et al.
Stem Cell Reports|October 8, 2019
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal AgingAnna Cozzi, Daniel I Orellana, Paolo Santambrogio, et al.
Biomedicines|January 20, 2021
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 ChannelPaola Imbrici, Andrea Accogli, Rikard Blunck, 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.
Neuromuscular Disorders : NMD|September 24, 2023
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14Gianmarco Severa, Alessandra Pennisi, Christine Barnerias, et al.
Case Reports in Medicine|December 25, 2023
Statin-Induced Necrotizing Autoimmune Myopathy: Case Report of a Patient under Chronic TreatmentIlaria Anna Bellofatto, Marta Sessarego, Amedeo Tirandi, et al.
Pageof 15

Showing results (71-80 of 142) with videos related to

Sort By:
Pageof 15
Aging|February 22, 2021
Functional analysis of <i>POLD1</i> p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacityMichela Murdocca, Paola Spitalieri, Claudia De Masi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 17, 2018
Italian recommendations for diagnosis and management of congenital myasthenic syndromesLorenzo Maggi, Pia Bernasconi, Adele D'Amico, et al.
Biochemical and Biophysical Research Communications|November 14, 2012
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 geneChiara Fiorillo, Giacomo Brisca, Denise Cassandrini, et al.
International Journal of Molecular Sciences|January 23, 2024
Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 MutationsPatrizia Benzoni, Elisabetta Gazzerro, Chiara Fiorillo, et al.
The Journal of Physiology|May 5, 2025
Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractilityJenni Laitila, Christopher T A Lewis, Anthony L Hessel, et al.
Stem Cell Reports|October 8, 2019
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal AgingAnna Cozzi, Daniel I Orellana, Paolo Santambrogio, et al.
Biomedicines|January 20, 2021
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 ChannelPaola Imbrici, Andrea Accogli, Rikard Blunck, 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.
Neuromuscular Disorders : NMD|September 24, 2023
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14Gianmarco Severa, Alessandra Pennisi, Christine Barnerias, et al.
Case Reports in Medicine|December 25, 2023
Statin-Induced Necrotizing Autoimmune Myopathy: Case Report of a Patient under Chronic TreatmentIlaria Anna Bellofatto, Marta Sessarego, Amedeo Tirandi, et al.
Pageof 15