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Human Mutation|April 5, 2013
RyR1 deficiency in congenital myopathies disrupts excitation-contraction couplingHaiyan Zhou, Ori Rokach, Lucy Feng, et al.Nature Genetics|March 23, 2004
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeGevork N Mnatzakanian, Hannes Lohi, Iulia Munteanu, et al.Nature Genetics|September 6, 2003
Mutations in NHLRC1 cause progressive myoclonus epilepsyElayne M Chan, Edwin J Young, Leonarda Ianzano, et al.Trials|September 27, 2022
ASEPTIC: primary antibiotic prophylaxis using co-trimoxazole to prevent SpontanEous bacterial PeritoniTIs in Cirrhosis-study protocol for an interventional randomised controlled trialDominic Crocombe, Norin Ahmed, Indran Balakrishnan, et al.Acta Neuropathologica|January 15, 2013
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.Cell|April 22, 2009
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.Pageof 2