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Garry K Brown

Showing results (1-10 of 26) with videos related to

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Journal of Inherited Metabolic Disease|May 1, 2015
Next generation mitochondrial disease: change in diagnostics with eyes on therapyEva Morava, Garry K Brown
Human Genetics|April 6, 2002
Pyruvate dehydrogenase E3 binding protein deficiencyRuth M Brown, Rosie A Head, Garry K Brown
Human Genetics|August 19, 2008
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiencyCheryl K Ridout, Ruth M Brown, John H Walter, et al.
JIMD Reports|April 11, 2014
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective AssessmentSanne van Dongen, Ruth M Brown, Garry K Brown, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|June 19, 2002
Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblastsMargarita Y Lib, Ruth M Brown, Garry K Brown, et al.
Mitochondrion|August 27, 2005
Heterogeneous distribution of pyruvate dehydrogenase in the matrix of mitochondriaDaciana H Margineantu, Ruth M Brown, Garry K Brown, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2009
Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystoniaCatherine A McWilliam, Cheryl K Ridout, Ruth M Brown, et al.
Human Genetics|May 13, 2004
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiencyRuth M Brown, Rosemary A Head, Ivan I Boubriak, et al.
Human Molecular Genetics|May 20, 2008
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutationsNeil Ashley, Anthony O'Rourke, Conrad Smith, et al.
Annals of Neurology|July 29, 2005
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiencyRosemary A Head, Ruth M Brown, Zarazuela Zolkipli, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Journal of Inherited Metabolic Disease|May 1, 2015
Next generation mitochondrial disease: change in diagnostics with eyes on therapyEva Morava, Garry K Brown
Human Genetics|April 6, 2002
Pyruvate dehydrogenase E3 binding protein deficiencyRuth M Brown, Rosie A Head, Garry K Brown
Human Genetics|August 19, 2008
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiencyCheryl K Ridout, Ruth M Brown, John H Walter, et al.
JIMD Reports|April 11, 2014
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective AssessmentSanne van Dongen, Ruth M Brown, Garry K Brown, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|June 19, 2002
Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblastsMargarita Y Lib, Ruth M Brown, Garry K Brown, et al.
Mitochondrion|August 27, 2005
Heterogeneous distribution of pyruvate dehydrogenase in the matrix of mitochondriaDaciana H Margineantu, Ruth M Brown, Garry K Brown, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2009
Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystoniaCatherine A McWilliam, Cheryl K Ridout, Ruth M Brown, et al.
Human Genetics|May 13, 2004
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiencyRuth M Brown, Rosemary A Head, Ivan I Boubriak, et al.
Human Molecular Genetics|May 20, 2008
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutationsNeil Ashley, Anthony O'Rourke, Conrad Smith, et al.
Annals of Neurology|July 29, 2005
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiencyRosemary A Head, Ruth M Brown, Zarazuela Zolkipli, et al.
Pageof 3