Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Anna Sarkozy

Showing results (91-100 of 137) with videos related to

Pageof 14
Sort By:
Journal of Neurology, Neurosurgery, and Psychiatry|May 6, 2016
Clinical features of the myasthenic syndrome arising from mutations in GMPPBPedro M Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, et al.
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.
Human Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.
Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.
Brain : a Journal of Neurology|December 28, 2010
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie Hicks, Anna Sarkozy, Nuria Muelas, et al.
Neuromuscular Disorders : NMD|September 18, 2012
Muscle MRI findings in limb girdle muscular dystrophy type 2LAnna Sarkozy, Marcus Deschauer, Robert-Yves Carlier, et al.
Muscle & Nerve|October 4, 2021
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international studyFederica Trucco, Deborah Ridout, Joana Domingos, et al.
Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.
Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 4, 2014
Two recurrent mutations are associated with GNE myopathy in the North of BritainAmina Chaouch, Kathryn M Brennan, Judith Hudson, et al.
Pageof 14

Showing results (91-100 of 137) with videos related to

Sort By:
Pageof 14
Journal of Neurology, Neurosurgery, and Psychiatry|May 6, 2016
Clinical features of the myasthenic syndrome arising from mutations in GMPPBPedro M Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, et al.
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.
Human Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.
Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.
Brain : a Journal of Neurology|December 28, 2010
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie Hicks, Anna Sarkozy, Nuria Muelas, et al.
Neuromuscular Disorders : NMD|September 18, 2012
Muscle MRI findings in limb girdle muscular dystrophy type 2LAnna Sarkozy, Marcus Deschauer, Robert-Yves Carlier, et al.
Muscle & Nerve|October 4, 2021
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international studyFederica Trucco, Deborah Ridout, Joana Domingos, et al.
Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.
Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 4, 2014
Two recurrent mutations are associated with GNE myopathy in the North of BritainAmina Chaouch, Kathryn M Brennan, Judith Hudson, et al.
Pageof 14