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Showing results (241-250 of 333) with videos related to

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Neuromuscular Disorders : NMD|June 21, 2011
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patientsLeigh B Waddell, Jenny Tran, Xi F Zheng, et al.
Annals of Neurology|October 7, 2004
Actin mutations are one cause of congenital fibre type disproportionNigel G Laing, Nigel F Clarke, Danielle E Dye, et al.
Human Molecular Genetics|January 22, 2010
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscleKate G R Quinlan, Jane T Seto, Nigel Turner, et al.
The Journal of Thoracic and Cardiovascular Surgery|November 26, 2008
Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: a pediatric animal modelJonathan R Egan, Tanya L Butler, Andrew D Cole, et al.
Neuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.
Nature Genetics|March 4, 2000
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosisJ M Kaplan, S H Kim, K N North, et al.
Science Advances|July 3, 2021
<i>ACTN3</i> genotype influences skeletal muscle mass regulation and response to dexamethasoneJane T Seto, Kelly N Roeszler, Lyra R Meehan, et al.
NPJ Genomic Medicine|November 21, 2017
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesDeborah Schofield, Khurshid Alam, Lyndal Douglas, et al.
American Journal of Human Genetics|May 6, 2022
Response to Mörseburg et alVictoria L Wyckelsma, Tomas Venckunas, Peter J Houweling, et al.
Neurology|April 12, 2012
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyM P Menezes, L B Waddell, F J Evesson, et al.
Pageof 34

Showing results (241-250 of 333) with videos related to

Sort By:
Pageof 34
Neuromuscular Disorders : NMD|June 21, 2011
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patientsLeigh B Waddell, Jenny Tran, Xi F Zheng, et al.
Annals of Neurology|October 7, 2004
Actin mutations are one cause of congenital fibre type disproportionNigel G Laing, Nigel F Clarke, Danielle E Dye, et al.
Human Molecular Genetics|January 22, 2010
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscleKate G R Quinlan, Jane T Seto, Nigel Turner, et al.
The Journal of Thoracic and Cardiovascular Surgery|November 26, 2008
Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: a pediatric animal modelJonathan R Egan, Tanya L Butler, Andrew D Cole, et al.
Neuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.
Nature Genetics|March 4, 2000
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosisJ M Kaplan, S H Kim, K N North, et al.
Science Advances|July 3, 2021
<i>ACTN3</i> genotype influences skeletal muscle mass regulation and response to dexamethasoneJane T Seto, Kelly N Roeszler, Lyra R Meehan, et al.
NPJ Genomic Medicine|November 21, 2017
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesDeborah Schofield, Khurshid Alam, Lyndal Douglas, et al.
American Journal of Human Genetics|May 6, 2022
Response to Mörseburg et alVictoria L Wyckelsma, Tomas Venckunas, Peter J Houweling, et al.
Neurology|April 12, 2012
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyM P Menezes, L B Waddell, F J Evesson, et al.
Pageof 34