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Stefania Aurino

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Current Opinion in Neurology|August 10, 2011
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approachesVincenzo Nigro, Stefania Aurino, Giulio Piluso
Annals of Neurology|November 5, 2003
On symptomatic heterozygous alpha-sarcoglycan gene mutation carriersDirk Fischer, Stefania Aurino, Vincenzo Nigro, et al.
Muscle & Nerve|February 18, 2010
Perioral skin biopsy to study skeletal muscle protein expressionLucio Santoro, Maria Nolano, Stefania Faraso, et al.
The Journal of Molecular Diagnostics : JMD|December 5, 2009
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatographyAnnalaura Torella, Amelia Trimarco, Francesca Del Vecchio Blanco, et al.
Muscle & Nerve|July 19, 2012
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxiaGiorgio Tasca, Zagaa Odgerel, Mauro Monforte, et al.
Clinical Chemistry|April 24, 2003
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia allelesAngela Tammaro, Adele Bracco, Santolo Cozzolino, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutationsMafalda Cacciottolo, Gelsomina Numitone, Stefania Aurino, et al.
European Journal of Pediatrics|January 18, 2006
Calpain-3 mutations in TurkeyBurcu Balci, Stefania Aurino, Göknur Haliloglu, et al.
American Journal of Human Genetics|February 10, 2009
A missense mutation in CASK causes FG syndrome in an Italian familyGiulio Piluso, Francesca D'Amico, Valentina Saccone, et al.
Journal of Neurology|February 24, 2005
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDsDirk Fischer, Maggie C Walter, Kristina Kesper, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Current Opinion in Neurology|August 10, 2011
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approachesVincenzo Nigro, Stefania Aurino, Giulio Piluso
Annals of Neurology|November 5, 2003
On symptomatic heterozygous alpha-sarcoglycan gene mutation carriersDirk Fischer, Stefania Aurino, Vincenzo Nigro, et al.
Muscle & Nerve|February 18, 2010
Perioral skin biopsy to study skeletal muscle protein expressionLucio Santoro, Maria Nolano, Stefania Faraso, et al.
The Journal of Molecular Diagnostics : JMD|December 5, 2009
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatographyAnnalaura Torella, Amelia Trimarco, Francesca Del Vecchio Blanco, et al.
Muscle & Nerve|July 19, 2012
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxiaGiorgio Tasca, Zagaa Odgerel, Mauro Monforte, et al.
Clinical Chemistry|April 24, 2003
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia allelesAngela Tammaro, Adele Bracco, Santolo Cozzolino, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutationsMafalda Cacciottolo, Gelsomina Numitone, Stefania Aurino, et al.
European Journal of Pediatrics|January 18, 2006
Calpain-3 mutations in TurkeyBurcu Balci, Stefania Aurino, Göknur Haliloglu, et al.
American Journal of Human Genetics|February 10, 2009
A missense mutation in CASK causes FG syndrome in an Italian familyGiulio Piluso, Francesca D'Amico, Valentina Saccone, et al.
Journal of Neurology|February 24, 2005
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDsDirk Fischer, Maggie C Walter, Kristina Kesper, et al.
Pageof 2