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Jan Smeitink

Showing results (21-30 of 74) with videos related to

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Gene|December 26, 2012
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2Samantha E Marin, Ronit Mesterman, Brian Robinson, et al.
JIMD Reports|February 23, 2013
Problems of adults with a mitochondrial disease - the patients' perspective: focus on lossGreet Noorda, Theo van Achterberg, Truus van der Hooft, et al.
Orphanet Journal of Rare Diseases|October 29, 2017
Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation studyRob Ramakers, Saskia Koene, Jan T Groothuis, et al.
European Radiology|April 5, 2005
Development of subdural effusions in association with pyruvate dehydrogenase deficiencyMaria Raissaki, Olga Grafakou, Andreas Giannopoulos, et al.
Molecular Genetics and Metabolism|December 7, 2002
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutationsRebecca Bedilu, Katherine A Nummy, Alan Cooper, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
Defective protein glycosylation in patients with cutis laxa syndromeEva Morava, Suzan Wopereis, Paul Coucke, et al.
Mitochondrion|April 25, 2019
Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial diseasePascal R de Vries, Mariska Janssen, Edwin Spaans, et al.
BMC Genomics|September 16, 2015
Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation systemRobin van der Lee, Radek Szklarczyk, Jan Smeitink, et al.
Brain & Development|July 21, 2019
ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IVAnna Ka-Yee Kwong, Vanessa Loi-Yan Chu, Richard J T Rodenburg, et al.
Orphanet Journal of Rare Diseases|November 15, 2018
Fear of disease progression in carriers of the m.3243A > G mutationJosé A E Custers, Paul de Laat, Saskia Koene, et al.
Pageof 8

Showing results (21-30 of 74) with videos related to

Sort By:
Pageof 8
Gene|December 26, 2012
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2Samantha E Marin, Ronit Mesterman, Brian Robinson, et al.
JIMD Reports|February 23, 2013
Problems of adults with a mitochondrial disease - the patients' perspective: focus on lossGreet Noorda, Theo van Achterberg, Truus van der Hooft, et al.
Orphanet Journal of Rare Diseases|October 29, 2017
Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation studyRob Ramakers, Saskia Koene, Jan T Groothuis, et al.
European Radiology|April 5, 2005
Development of subdural effusions in association with pyruvate dehydrogenase deficiencyMaria Raissaki, Olga Grafakou, Andreas Giannopoulos, et al.
Molecular Genetics and Metabolism|December 7, 2002
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutationsRebecca Bedilu, Katherine A Nummy, Alan Cooper, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
Defective protein glycosylation in patients with cutis laxa syndromeEva Morava, Suzan Wopereis, Paul Coucke, et al.
Mitochondrion|April 25, 2019
Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial diseasePascal R de Vries, Mariska Janssen, Edwin Spaans, et al.
BMC Genomics|September 16, 2015
Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation systemRobin van der Lee, Radek Szklarczyk, Jan Smeitink, et al.
Brain & Development|July 21, 2019
ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IVAnna Ka-Yee Kwong, Vanessa Loi-Yan Chu, Richard J T Rodenburg, et al.
Orphanet Journal of Rare Diseases|November 15, 2018
Fear of disease progression in carriers of the m.3243A > G mutationJosé A E Custers, Paul de Laat, Saskia Koene, et al.
Pageof 8