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M Deschauer

Showing results (31-40 of 37) with videos related to

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Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 3, 2008
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filamentsP Reilich, J A Petersen, S Vielhaber, et al.
Neurology|May 10, 2006
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletionsG Hudson, M Deschauer, R W Taylor, et al.
Human Molecular Genetics|January 15, 2013
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosisJ Prause, A Goswami, I Katona, et al.
Molecular Genetics and Metabolism|July 16, 2013
Pain in adult patients with Pompe disease: a cross-sectional surveyD Güngör, A K Schober, M E Kruijshaar, et al.
Journal of Neurology|August 4, 2009
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trialS Strothotte, N Strigl-Pill, B Grunert, et al.
Neuropathology and Applied Neurobiology|September 24, 2019
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe diseaseM Kulessa, I Weyer-Menkhoff, L Viergutz, et al.
Molecular Genetics and Metabolism|December 15, 2007
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting, B Winchester, D Bali, et al.
Pageof 4

Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 3, 2008
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filamentsP Reilich, J A Petersen, S Vielhaber, et al.
Neurology|May 10, 2006
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletionsG Hudson, M Deschauer, R W Taylor, et al.
Human Molecular Genetics|January 15, 2013
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosisJ Prause, A Goswami, I Katona, et al.
Molecular Genetics and Metabolism|July 16, 2013
Pain in adult patients with Pompe disease: a cross-sectional surveyD Güngör, A K Schober, M E Kruijshaar, et al.
Journal of Neurology|August 4, 2009
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trialS Strothotte, N Strigl-Pill, B Grunert, et al.
Neuropathology and Applied Neurobiology|September 24, 2019
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe diseaseM Kulessa, I Weyer-Menkhoff, L Viergutz, et al.
Molecular Genetics and Metabolism|December 15, 2007
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting, B Winchester, D Bali, et al.
Pageof 4