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29 results for van+der+Westhuizen,+Francois+H.

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ArticlesPeer ReviewedFull Text
Kinetic analysis, size profiling, and bioenergetic association of DNA released by selected cell lines in vitro
Author / Creator:Aucamp, Janine ; Bronkhorst, Abel J. ; Peters, Dimetrie L. ; Van Dyk, Hayley C. ; Van der Westhuizen, Francois H. ; Pretorius, Piet J.
Publisher:Cham: Springer International Publishing
Journal title:Cellular and molecular life sciences : CMLS, 2017-07, Vol.74 (14), p.2689-2707
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MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants
Author / Creator:Venter, Marianne ; Tomas, Cara ; Pienaar, Ilse S. ; Strassheim, Victoria ; Erasmus, Elardus ; Ng, Wan-Fai ; Howell, Neil ; Newton, Julia L. ; Van der Westhuizen, Francois H. ; Elson, Joanna L.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-02, Vol.9 (1), p.2914, Article 2914
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Cross-comparison of systemic and tissue-specific metabolomes in a mouse model of Leigh syndrome
Author / Creator:Terburgh, Karin ; Lindeque, Jeremie Z. ; van der Westhuizen, Francois H. ; Louw, Roan
Publisher:New York: Springer US
Journal title:Metabolomics, 2021-12, Vol.17 (12), p.101-101, Article 101
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Health Status Is Affected, and Phase I/II Biotransformation Activity Altered in Young Women Using Oral Contraceptives Containing Drospirenone/Ethinyl Estradiol
Author / Creator:Venter, Gerda ; van der Berg, Carien L. ; van der Westhuizen, Francois H. ; Erasmus, Elardus
Publisher:Basel: MDPI AG
Journal title:International journal of environmental research and public health, 2021-10, Vol.18 (20), p.10607
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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study
Author / Creator:Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli ; Schoonen, Maryke ; Vorster, Barend C. ; van der Watt, George ; Spencer, Careni ; Naidu, Kireshnee ; Henning, Franclo ; Meldau, Surita ; McFarland, Robert ; Taylor, Robert W. ; Patel, Krutik ; Fassad, Mahmoud R. ; Vandrovcova, Jana ; Wanders, Ronald J. A. ; van der Westhuizen, Francois H.
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.15-15, Article 15
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Mitochondrial DNA variation in Parkinson’s disease: Analysis of “out-of-place” population variants as a risk factor
Author / Creator:Müller-Nedebock, Amica C ; Pfaff, Abigail L ; Pienaar, Ilse S ; Kõks, Sulev ; van der Westhuizen, Francois H. ; Elson, Joanna L ; Bardien, Soraya
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in aging neuroscience, 2022-07
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One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
Author / Creator:Esterhuizen, Karien ; Lindeque, J. Zander ; Mason, Shayne ; van der Westhuizen, Francois H. ; Rodenburg, Richard J. ; de Laat, Paul ; Smeitink, Jan A. M. ; Janssen, Mirian C. H. ; Louw, Roan
Publisher:New York: Springer US
Journal title:Metabolomics, 2021-01, Vol.17 (1), p.10-10, Article 10
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Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome
Author / Creator:Schoeman, Elizna M. ; Van Der Westhuizen, Francois H. ; Erasmus, Elardus ; van Dyk, Etresia ; Knowles, Charlotte V. Y. ; Al-Ali, Shereen ; Ng, Wan-Fai ; Taylor, Robert W. ; Newton, Julia L. ; Elson, Joanna L.
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2017-03, Vol.18 (1), p.29, Article 29
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A bioinformatics pipeline for rare genetic diseases in South African patients
Author / Creator:Van der Westhuizen, Francois H. ; Schoonen, Maryke ; Smuts, Izelle ; Seyffert, Albertus S.
Publisher:Pretoria: Academy of Science for South Africa (ASSAf)
Journal title:South African journal of science, 2019-03, Vol.115 (3-4), p.99-101
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The effects of high walnut and cashew nut diets on the antioxidant status of subjects with metabolic syndrome
Author / Creator:Davis, Lisa ; Stonehouse, Welma ; Loots, Du Toit ; Mukuddem-Petersen, Janine ; van der Westhuizen, Francois H. ; Hanekom, Susanna M. ; Jerling, Johann C.
Publisher:Heidelberg: Springer
Journal title:European journal of nutrition, 2007-04, Vol.46 (3), p.155-164
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Phytochemical Contents and Antioxidant Capacities of Two Aloe greatheadii var. davyana Extracts
Author / Creator:Botes, Lisa ; Van der Westhuizen, Francois H. ; Loots, Du Toit
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2008-09, Vol.13 (9), p.2169-2180
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A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease
Author / Creator:Barkhuizen, Melinda ; Anderson, David G. ; Westhuizen, Francois H. ; Grobler, Anne F.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2017-03, Vol.5 (2), p.147-156
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Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
Author / Creator:Baynam, Gareth ; Julkowska, Daria ; Bowdin, Sarah ; Hermes, Azure ; McMaster, Christopher R. ; Prichep, Elissa ; Richer, Étienne ; van der Westhuizen, Francois H. ; Repetto, Gabriela M. ; Malherbe, Helen ; Reichardt, Juergen K. V. ; Arbour, Laura ; Hudson, Maui ; du Plessis, Kelly ; Haendel, Melissa ; Wilcox, Phillip ; Lynch, Sally Ann ; Rind, Shamir ; Easteal, Simon ; Estivill, Xavier ; Caron, Nadine ; Chongo, Meck ; Thomas, Yarlalu ; Letinturier, Mary Catherine V. ; Vorster, Barend Christiaan
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2024-02, Vol.56 (2), p.189-193
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A Novel Mitochondria-Targeting Iron Chelator Neuroprotects Multimodally via HIF-1 Modulation Against a Mitochondrial Toxin in a Dopaminergic Cell Model of Parkinson’s Disease
Author / Creator:Fouché, Belinda ; Turner, Stephanie ; Gorham, Rebecca ; Stephenson, Eloise J. ; Gutbier, Simon ; Elson, Joanna L. ; García-Beltrán, Olimpo ; Van Der Westhuizen, Francois H. ; Pienaar, Ilse S.
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2023-02, Vol.60 (2), p.749-767
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A call for global action for rare diseases in Africa
Author / Creator:Baynam, Gareth S. ; Groft, Stephen ; van der Westhuizen, Francois H. ; Gassman, Safiyya D. ; du Plessis, Kelly ; Coles, Emily P. ; Selebatso, Eda ; Selebatso, Moses ; Gaobinelwe, Boikobo ; Selebatso, Tebogo ; Joel, Dipesalema ; Llera, Virginia A. ; Vorster, Barend C. ; Wuebbels, Barbara ; Djoudalbaye, Benjamin ; Austin, Christopher P. ; Kumuthini, Judit ; Forman, John ; Kaufmann, Petra ; Chipeta, James ; Gavhed, Désirée ; Larsson, Annika ; Stojiljkovic, Maja ; Nordgren, Ann ; Roldan, Emilio J. A. ; Taruscio, Domenica ; Wong-Rieger, Durhane ; Nowak, Kristen ; Bilkey, Gemma A. ; Easteal, Simon ; Bowdin, Sarah ; Reichardt, Juergen K. V. ; Beltran, Sergi ; Kosaki, Kenjiro ; van Karnebeek, Clara D. M. ; Gong, Mengchun ; Shuyang, Zhang ; Mehrian-Shai, Ruty ; Adams, David R. ; Puri, Ratna D. ; Zhang, Feng ; Pachter, Nicholas ; Muenke, Maximilian ; Nellaker, Christoffer ; Gahl, William A. ; Cederroth, Helene ; Broley, Stephanie ; Schoonen, Maryke ; Boycott, Kym M. ; Posada, Manuel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2020-01, Vol.52 (1), p.21-26
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Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
Author / Creator:Alston, Charlotte L ; Davison, James E ; Meloni, Francesca ; van der Westhuizen, Francois H ; He, Langping ; Hornig-Do, Hue-Tran ; Peet, Andrew C ; Gissen, Paul ; Goffrini, Paola ; Ferrero, Ileana ; Wassmer, Evangeline ; McFarland, Robert ; Taylor, Robert W
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2012-09, Vol.49 (9), p.569-577
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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Author / Creator:Wortmann, Saskia B. ; Kluijtmans, Leo A. J. ; Rodenburg, Richard J. ; Sass, Jörn Oliver ; Nouws, Jessica ; van Kaauwen, Edwin P. ; Kleefstra, Tjitske ; Tranebjaerg, Lisbeth ; de Vries, Maaike C. ; Isohanni, Pirjo ; Walter, Katharina ; Alkuraya, Fowzan S. ; Smuts, Izelle ; Reinecke, Carolus J. ; van der Westhuizen, Francois H. ; Thorburn, David ; Smeitink, Jan A. M. ; Morava, Eva ; Wevers, Ron A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.913-921
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ArticlesPeer ReviewedFull Text
Metabolomics of urinary organic acids in respiratory chain deficiencies in children
Author / Creator:Reinecke, Carolus J. ; Koekemoer, Gerhard ; van der Westhuizen, Francois H. ; Louw, Roan ; Lindeque, Jeremie Z. ; Mienie, Lodewyk J. ; Smuts, Izelle
Publisher:Boston: Springer US
Journal title:Metabolomics, 2012-04, Vol.8 (2), p.264-283
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ArticlesPeer ReviewedFull Text
The aetiology of cardiovascular disease: a role formitochondrial DNA?
Author / Creator:Venter, Marianne ; Francois H van der Westhuizen ; Elson, Joanna L
Publisher:Durbanville: Clinics Cardive Publishing
Journal title:Cardiovascular Journal of Africa, 2018-01, Vol.29 (2), p.122-132
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Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease
Author / Creator:van der Walt, Elizna M ; Smuts, Izelle ; Taylor, Robert W ; Elson, Joanna L ; Turnbull, Douglass M ; Louw, Roan ; van der Westhuizen, Francois H
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.650-656
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Showing 1 to 20 of 29 results

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Kinetic analysis, size profiling, and bioenergetic association of DNA released by selected cell lines in vitro

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MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants

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Cross-comparison of systemic and tissue-specific metabolomes in a mouse model of Leigh syndrome

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Health Status Is Affected, and Phase I/II Biotransformation Activity Altered in Young Women Using Oral Contraceptives Containing Drospirenone/Ethinyl Estradiol

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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

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Mitochondrial DNA variation in Parkinson’s disease: Analysis of “out-of-place” population variants as a risk factor

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One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation

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Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome

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A bioinformatics pipeline for rare genetic diseases in South African patients

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The effects of high walnut and cashew nut diets on the antioxidant status of subjects with metabolic syndrome

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Phytochemical Contents and Antioxidant Capacities of Two Aloe greatheadii var. davyana Extracts

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A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease

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Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

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A Novel Mitochondria-Targeting Iron Chelator Neuroprotects Multimodally via HIF-1 Modulation Against a Mitochondrial Toxin in a Dopaminergic Cell Model of Parkinson’s Disease

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A call for global action for rare diseases in Africa

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Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

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Metabolomics of urinary organic acids in respiratory chain deficiencies in children

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The aetiology of cardiovascular disease: a role formitochondrial DNA?

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Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

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