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Brain : a Journal of Neurology
|
April 18, 2024
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
Felix Distelmaier, Abdullah Sezer, Christina Helm, et al.
Annals of Neurology
|
September 1, 2005
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy
Betti Giusti, Laura Lucarini, Valentina Pietroni, et al.
Neuromuscular Disorders : NMD
|
July 30, 2017
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study
Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, et al.
Scientific Reports
|
April 6, 2021
Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux
Gülsüm Kayman Kürekçi, Ecem Kural Mangit, Cansu Koyunlar, et al.
Neuromuscular Disorders : NMD
|
December 12, 2001
82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands
Gisèle Bonne, Jaqueline Capeau, Marianne De Visser, et al.
Neuromuscular Disorders : NMD
|
December 18, 2003
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan
Pervin Dinçer, Burcu Balci, Yeliz Yuva, et al.
World Journal of Pediatrics : WJP
|
November 23, 2011
Solid tumors in Turkish children: a multicenter study
Ayper Kacar, Irem Paker, Zuhal Akcoren, et al.
Brain : a Journal of Neurology
|
April 7, 2007
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel, Haluk Topaloglu, Beril Talim, et al.
American Journal of Human Genetics
|
July 11, 2006
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
Katrin Hoffmann, Juliane S Muller, Sigmar Stricker, et al.
American Journal of Human Genetics
|
August 5, 2014
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
Pankaj B Agrawal, Christopher R Pierson, Mugdha Joshi, et al.
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of 12
Search research articles
Search
Showing results (91-100 of 118) with videos related to
Sort By:
Page
of 12
Brain : a Journal of Neurology
|
April 18, 2024
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
Felix Distelmaier, Abdullah Sezer, Christina Helm, et al.
Annals of Neurology
|
September 1, 2005
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy
Betti Giusti, Laura Lucarini, Valentina Pietroni, et al.
Neuromuscular Disorders : NMD
|
July 30, 2017
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study
Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, et al.
Scientific Reports
|
April 6, 2021
Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux
Gülsüm Kayman Kürekçi, Ecem Kural Mangit, Cansu Koyunlar, et al.
Neuromuscular Disorders : NMD
|
December 12, 2001
82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands
Gisèle Bonne, Jaqueline Capeau, Marianne De Visser, et al.
Neuromuscular Disorders : NMD
|
December 18, 2003
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan
Pervin Dinçer, Burcu Balci, Yeliz Yuva, et al.
World Journal of Pediatrics : WJP
|
November 23, 2011
Solid tumors in Turkish children: a multicenter study
Ayper Kacar, Irem Paker, Zuhal Akcoren, et al.
Brain : a Journal of Neurology
|
April 7, 2007
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel, Haluk Topaloglu, Beril Talim, et al.
American Journal of Human Genetics
|
July 11, 2006
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
Katrin Hoffmann, Juliane S Muller, Sigmar Stricker, et al.
American Journal of Human Genetics
|
August 5, 2014
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
Pankaj B Agrawal, Christopher R Pierson, Mugdha Joshi, et al.
Page
of 12