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Sabrina Sacconi

Showing results (11-20 of 156) with videos related to

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Archives of Neurology|June 12, 2002
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNASabrina Sacconi, Leonardo Salviati, Clifton Gooch, et al.
Journal of Neurology|July 31, 2009
Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition?Emilien Delmont, Charles Benaïm, Mael Launay, et al.
International Journal of Molecular Sciences|March 10, 2022
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic DifferentiationDenis Vecellio Reane, Cristina Cerqua, Sabrina Sacconi, et al.
Journal of Neurology|June 19, 2010
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe diseaseSabrina Sacconi, Jonathan D Bocquet, Stéphane Chanalet, et al.
Neuromuscular Disorders : NMD|May 19, 2025
278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The NetherlandsSabrina Sacconi, Fiammetta Vanoli, Frauke Stascheit, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh SyndromeLeonardo Salviati, Cindy Freehauf, Sabrina Sacconi, et al.
Brain Pathology (Zurich, Switzerland)|April 1, 2026
Polymorphic myopathological findings in a 77-year-old woman with oculo-bulbo-facial and distal weaknessMichele Tosi, Angela Puma, Elena Faedo, et al.
Neurology|March 1, 2013
Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction sizeJeffrey M Statland, Sabrina Sacconi, Constantine Farmakidis, et al.
Human Molecular Genetics|September 11, 2014
The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesisSonia Sacco, Serena Giuliano, Sabrina Sacconi, et al.
Muscle & Nerve|July 21, 2016
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathyKonstantina Fragaki, Annabelle Chaussenot, Audrey Boutron, et al.
Pageof 16

Showing results (11-20 of 156) with videos related to

Sort By:
Pageof 16
Archives of Neurology|June 12, 2002
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNASabrina Sacconi, Leonardo Salviati, Clifton Gooch, et al.
Journal of Neurology|July 31, 2009
Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition?Emilien Delmont, Charles Benaïm, Mael Launay, et al.
International Journal of Molecular Sciences|March 10, 2022
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic DifferentiationDenis Vecellio Reane, Cristina Cerqua, Sabrina Sacconi, et al.
Journal of Neurology|June 19, 2010
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe diseaseSabrina Sacconi, Jonathan D Bocquet, Stéphane Chanalet, et al.
Neuromuscular Disorders : NMD|May 19, 2025
278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The NetherlandsSabrina Sacconi, Fiammetta Vanoli, Frauke Stascheit, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh SyndromeLeonardo Salviati, Cindy Freehauf, Sabrina Sacconi, et al.
Brain Pathology (Zurich, Switzerland)|April 1, 2026
Polymorphic myopathological findings in a 77-year-old woman with oculo-bulbo-facial and distal weaknessMichele Tosi, Angela Puma, Elena Faedo, et al.
Neurology|March 1, 2013
Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction sizeJeffrey M Statland, Sabrina Sacconi, Constantine Farmakidis, et al.
Human Molecular Genetics|September 11, 2014
The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesisSonia Sacco, Serena Giuliano, Sabrina Sacconi, et al.
Muscle & Nerve|July 21, 2016
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathyKonstantina Fragaki, Annabelle Chaussenot, Audrey Boutron, et al.
Pageof 16