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A Reghan Foley

Showing results (91-100 of 114) with videos related to

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Brain : a Journal of Neurology|September 28, 2021
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinaseOsorio Lopes Abath Neto, Livija Medne, Sandra Donkervoort, et al.
The Lancet. Neurology|November 17, 2023
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trialPerry B Shieh, Nancy L Kuntz, James J Dowling, et al.
American Journal of Human Genetics|May 11, 2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyJoel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.
Acta Neuropathologica|February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophyAndres Nascimento, Christine C Bruels, Sandra Donkervoort, 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.
Neuromuscular Disorders : NMD|August 19, 2017
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patientsOsorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Brain Communications|July 9, 2021
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophyRabah Ben Yaou, Pomi Yun, Ivana Dabaj, et al.
Pageof 12

Showing results (91-100 of 114) with videos related to

Sort By:
Pageof 12
Brain : a Journal of Neurology|September 28, 2021
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinaseOsorio Lopes Abath Neto, Livija Medne, Sandra Donkervoort, et al.
The Lancet. Neurology|November 17, 2023
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trialPerry B Shieh, Nancy L Kuntz, James J Dowling, et al.
American Journal of Human Genetics|May 11, 2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyJoel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.
Acta Neuropathologica|February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophyAndres Nascimento, Christine C Bruels, Sandra Donkervoort, 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.
Neuromuscular Disorders : NMD|August 19, 2017
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patientsOsorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Brain Communications|July 9, 2021
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophyRabah Ben Yaou, Pomi Yun, Ivana Dabaj, et al.
Pageof 12