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Christopher Lindberg

Showing results (41-50 of 56) with videos related to

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Brain Pathology (Zurich, Switzerland)|November 22, 2021
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variantSara Roos, Carola Hedberg-Oldfors, Kittichate Visuttijai, et al.
Neuromuscular Disorders : NMD|October 20, 2006
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophyEva L Arkblad, Niklas Darin, Kerstin Berg, et al.
Human Molecular Genetics|March 1, 2013
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]Sara Roos, Bertil Macao, Javier Miralles Fusté, et al.
Brain : a Journal of Neurology|May 12, 2012
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titinMonica Ohlsson, Carola Hedberg, Björn Brådvik, et al.
Endocrine Connections|May 12, 2017
Skeletal muscle metabolism during prolonged exercise in Pompe diseaseNicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, et al.
Neurology. Genetics|February 12, 2020
Deep sequencing of mitochondrial DNA and characterization of a novel <i>POLG</i> mutation in a patient with arPEOCarola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, et al.
Annals of Neurology|June 27, 2013
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Johanna Nilsson, Benedikt Schoser, Pascal Laforet, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsHoma Tajsharghi, Simon Hammans, Christopher Lindberg, et al.
Journal of Medical Genetics|December 7, 2021
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre studyKristoffer Björkman, John Vissing, Elsebet Østergaard, et al.
Kidney Diseases (Basel, Switzerland)|May 9, 2022
Renal Phenotype in Mitochondrial Diseases: A Multicenter StudyMaria Parasyri, Per Brandström, Johanna Uusimaa, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Brain Pathology (Zurich, Switzerland)|November 22, 2021
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variantSara Roos, Carola Hedberg-Oldfors, Kittichate Visuttijai, et al.
Neuromuscular Disorders : NMD|October 20, 2006
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophyEva L Arkblad, Niklas Darin, Kerstin Berg, et al.
Human Molecular Genetics|March 1, 2013
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]Sara Roos, Bertil Macao, Javier Miralles Fusté, et al.
Brain : a Journal of Neurology|May 12, 2012
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titinMonica Ohlsson, Carola Hedberg, Björn Brådvik, et al.
Endocrine Connections|May 12, 2017
Skeletal muscle metabolism during prolonged exercise in Pompe diseaseNicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, et al.
Neurology. Genetics|February 12, 2020
Deep sequencing of mitochondrial DNA and characterization of a novel <i>POLG</i> mutation in a patient with arPEOCarola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, et al.
Annals of Neurology|June 27, 2013
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Johanna Nilsson, Benedikt Schoser, Pascal Laforet, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsHoma Tajsharghi, Simon Hammans, Christopher Lindberg, et al.
Journal of Medical Genetics|December 7, 2021
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre studyKristoffer Björkman, John Vissing, Elsebet Østergaard, et al.
Kidney Diseases (Basel, Switzerland)|May 9, 2022
Renal Phenotype in Mitochondrial Diseases: A Multicenter StudyMaria Parasyri, Per Brandström, Johanna Uusimaa, et al.
Pageof 6