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Frontiers in Genetics
|
December 15, 2023
Prominent muscle involvement in a familial form of mitochondrial disease due to a <i>COA8</i> variant
Martina Rimoldi, Francesca Magri, Sara Antognozzi, et al.
Frontiers in Neurology
|
March 19, 2024
Case report: A novel <i>ACTA1</i> variant in a patient with nemaline rods and increased glycogen deposition
Daniela Piga, Martina Rimoldi, Francesca Magri, et al.
Neurology
|
October 27, 2015
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy
Lorenzo Peverelli, Silvia Testolin, Luisa Villa, et al.
International Journal of Molecular Sciences
|
October 29, 2025
New Insights into Pathogenesis and Management of Keratoacanthoma: A Narrative Review
Mariafrancesca Hyeraci, Dario Didona, Damiano Abeni, et al.
Frontiers in Neurology
|
May 16, 2020
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na<sub>v</sub>1.4
Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, et al.
Sexually Transmitted Infections
|
September 21, 2021
Continuing evidence that COVID-19 has influenced syphilis epidemiology in Rome
Alessandra Latini, Francesca Magri, Eugenia Giuliani, et al.
Human Mutation
|
August 16, 2005
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies
Rachele Cagliani, Francesca Magri, Antonio Toscano, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 24, 2015
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation
Irene Colombo, Serena Pagliarani, Silvia Testolin, et al.
Science Translational Medicine
|
December 21, 2012
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy
Stefania Corti, Monica Nizzardo, Chiara Simone, et al.
Journal of the Neurological Sciences
|
November 11, 2021
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
Eleonora Mauri, Daniela Piga, Serena Pagliarani, et al.
Page
of 18
Search research articles
Search
Showing results (101-110 of 174) with videos related to
Sort By:
Page
of 18
Frontiers in Genetics
|
December 15, 2023
Prominent muscle involvement in a familial form of mitochondrial disease due to a <i>COA8</i> variant
Martina Rimoldi, Francesca Magri, Sara Antognozzi, et al.
Frontiers in Neurology
|
March 19, 2024
Case report: A novel <i>ACTA1</i> variant in a patient with nemaline rods and increased glycogen deposition
Daniela Piga, Martina Rimoldi, Francesca Magri, et al.
Neurology
|
October 27, 2015
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy
Lorenzo Peverelli, Silvia Testolin, Luisa Villa, et al.
International Journal of Molecular Sciences
|
October 29, 2025
New Insights into Pathogenesis and Management of Keratoacanthoma: A Narrative Review
Mariafrancesca Hyeraci, Dario Didona, Damiano Abeni, et al.
Frontiers in Neurology
|
May 16, 2020
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na<sub>v</sub>1.4
Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, et al.
Sexually Transmitted Infections
|
September 21, 2021
Continuing evidence that COVID-19 has influenced syphilis epidemiology in Rome
Alessandra Latini, Francesca Magri, Eugenia Giuliani, et al.
Human Mutation
|
August 16, 2005
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies
Rachele Cagliani, Francesca Magri, Antonio Toscano, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 24, 2015
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation
Irene Colombo, Serena Pagliarani, Silvia Testolin, et al.
Science Translational Medicine
|
December 21, 2012
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy
Stefania Corti, Monica Nizzardo, Chiara Simone, et al.
Journal of the Neurological Sciences
|
November 11, 2021
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
Eleonora Mauri, Daniela Piga, Serena Pagliarani, et al.
Page
of 18