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Antonella Carsana

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

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Thescientificworldjournal|March 12, 2013
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variationsAntonella Carsana
Journal of Clinical Medicine|December 11, 2019
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular DystrophiesGabriella Esposito, Antonella Carsana
Clinical Chemistry and Laboratory Medicine|March 15, 2003
Identification of new polymorphisms in the CACNA1S geneAntonella Carsana, Giuliana Fortunato, Claudia De Sarno, et al.
The Journal of Molecular Diagnostics : JMD|January 26, 2007
A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern ItalyAntonella Carsana, Giulia Frisso, Maria Roberta Tremolaterra, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 3, 2013
A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedureGabriella Esposito, Raffaella Ruggiero, Giovanni Savarese, et al.
Clinical Chemistry and Laboratory Medicine|June 5, 2013
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophyGabriella Esposito, Raffaella Ruggiero, Maria Savarese, et al.
Journal of Human Genetics|September 8, 2017
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD geneGabriella Esposito, Maria Roberta Tremolaterra, Evelina Marsocci, et al.
Scientific Reports|September 21, 2016
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individualsKerstin Hoppe, Guido Hack, Frank Lehmann-Horn, et al.
Biomed Research International|June 6, 2019
<i>RYR1</i> Sequence Variants in Myopathies: Expression and Functional Studies in Two FamiliesAlberto Zullo, Giuseppa Perrotta, Rossana D'Angelo, et al.
American Journal of Physiology. Cell Physiology|September 24, 2010
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunitAntonella Pirone, Johann Schredelseker, Petronel Tuluc, et al.
Pageof 2

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

Sort By:
Pageof 2
Thescientificworldjournal|March 12, 2013
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variationsAntonella Carsana
Journal of Clinical Medicine|December 11, 2019
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular DystrophiesGabriella Esposito, Antonella Carsana
Clinical Chemistry and Laboratory Medicine|March 15, 2003
Identification of new polymorphisms in the CACNA1S geneAntonella Carsana, Giuliana Fortunato, Claudia De Sarno, et al.
The Journal of Molecular Diagnostics : JMD|January 26, 2007
A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern ItalyAntonella Carsana, Giulia Frisso, Maria Roberta Tremolaterra, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 3, 2013
A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedureGabriella Esposito, Raffaella Ruggiero, Giovanni Savarese, et al.
Clinical Chemistry and Laboratory Medicine|June 5, 2013
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophyGabriella Esposito, Raffaella Ruggiero, Maria Savarese, et al.
Journal of Human Genetics|September 8, 2017
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD geneGabriella Esposito, Maria Roberta Tremolaterra, Evelina Marsocci, et al.
Scientific Reports|September 21, 2016
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individualsKerstin Hoppe, Guido Hack, Frank Lehmann-Horn, et al.
Biomed Research International|June 6, 2019
<i>RYR1</i> Sequence Variants in Myopathies: Expression and Functional Studies in Two FamiliesAlberto Zullo, Giuseppa Perrotta, Rossana D'Angelo, et al.
American Journal of Physiology. Cell Physiology|September 24, 2010
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunitAntonella Pirone, Johann Schredelseker, Petronel Tuluc, et al.
Pageof 2