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Showing results (521-530 of 565) with videos related to

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Neurology|August 29, 2023
Long-term Natural History of Pediatric Dominant and Recessive <i>RYR1</i>-Related MyopathyAnna Sarkozy, Mario Sa, Deborah Ridout, et al.
Neuromuscular Disorders : NMD|February 5, 2003
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneM R Davis, E Haan, H Jungbluth, et al.
Neurology|January 5, 2018
Atypical periodic paralysis and myalgia: A novel <i>RYR1</i> phenotypeEmma Matthews, Christoph Neuwirth, Fatima Jaffer, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Orphanet Journal of Rare Diseases|October 15, 2020
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)Tomàs Pinós, Antoni L Andreu, Claudio Bruno, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Neurology|June 15, 2011
SEPN1-related myopathies: clinical course in a large cohort of patientsM Scoto, S Cirak, R Mein, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 8, 2024
Enhancing cancer immunotherapy via inhibition of soluble epoxide hydrolaseAbigail G Kelly, Weicang Wang, Eva Rothenberger, et al.
Brain : a Journal of Neurology|May 8, 2007
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathiesHaiyan Zhou, Heinz Jungbluth, Caroline A Sewry, et al.
Behavioral and Brain Functions : BBF|June 30, 2011
Risk and protective genetic variants in suicidal behaviour: association with SLC1A2, SLC1A3, 5-HTR1B &NTRK2 polymorphismsTherese M Murphy, Maria Ryan, Tom Foster, et al.
Pageof 57

Showing results (521-530 of 565) with videos related to

Sort By:
Pageof 57
Neurology|August 29, 2023
Long-term Natural History of Pediatric Dominant and Recessive <i>RYR1</i>-Related MyopathyAnna Sarkozy, Mario Sa, Deborah Ridout, et al.
Neuromuscular Disorders : NMD|February 5, 2003
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneM R Davis, E Haan, H Jungbluth, et al.
Neurology|January 5, 2018
Atypical periodic paralysis and myalgia: A novel <i>RYR1</i> phenotypeEmma Matthews, Christoph Neuwirth, Fatima Jaffer, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Orphanet Journal of Rare Diseases|October 15, 2020
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)Tomàs Pinós, Antoni L Andreu, Claudio Bruno, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Neurology|June 15, 2011
SEPN1-related myopathies: clinical course in a large cohort of patientsM Scoto, S Cirak, R Mein, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 8, 2024
Enhancing cancer immunotherapy via inhibition of soluble epoxide hydrolaseAbigail G Kelly, Weicang Wang, Eva Rothenberger, et al.
Brain : a Journal of Neurology|May 8, 2007
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathiesHaiyan Zhou, Heinz Jungbluth, Caroline A Sewry, et al.
Behavioral and Brain Functions : BBF|June 30, 2011
Risk and protective genetic variants in suicidal behaviour: association with SLC1A2, SLC1A3, 5-HTR1B &NTRK2 polymorphismsTherese M Murphy, Maria Ryan, Tom Foster, et al.
Pageof 57