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Brain : a Journal of Neurology
|
March 4, 2020
Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement
Nicole J Van Bergen, John Christodoulou
Brain : a Journal of Neurology
|
October 4, 2020
Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy
Nicole J Van Bergen, Molly Ellery, John Christodoulou
Brain : a Journal of Neurology
|
May 29, 2020
Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness
Nicole J Van Bergen, Carole L Linster, John Christodoulou
International Journal of Molecular Sciences
|
October 16, 2024
Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder
Sean Massey, Anita Quigley, Simone Rochfort, et al.
Brain : a Journal of Neurology
|
March 7, 2022
Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient
Nicole J Van Bergen, Adhish S Walvekar, Carole L Linster, et al.
Mitochondrion
|
March 25, 2014
Oxidative phosphorylation measurement in cell lines and tissues
Nicole J Van Bergen, Rachel E Blake, Jonathan G Crowston, et al.
Journal of Glaucoma
|
February 20, 2009
Mitochondrial dysfunction and glaucoma
George Y X Kong, Nicole J Van Bergen, Ian A Trounce, et al.
Eye and Brain
|
May 26, 2017
Mitochondrial disorders and the eye
Nicole J Van Bergen, Rahul Chakrabarti, Evelyn C O'Neill, et al.
Stem Cell Research
|
January 9, 2025
Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency
Riley Hall, Tim Sikora, Annabelle Suter, et al.
Journal of Inherited Metabolic Disease
|
July 22, 2022
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
Nicole J Van Bergen, Adhish S Walvekar, Myrto Patraskaki, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 51) with videos related to
Sort By:
Page
of 6
Brain : a Journal of Neurology
|
March 4, 2020
Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement
Nicole J Van Bergen, John Christodoulou
Brain : a Journal of Neurology
|
October 4, 2020
Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy
Nicole J Van Bergen, Molly Ellery, John Christodoulou
Brain : a Journal of Neurology
|
May 29, 2020
Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness
Nicole J Van Bergen, Carole L Linster, John Christodoulou
International Journal of Molecular Sciences
|
October 16, 2024
Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder
Sean Massey, Anita Quigley, Simone Rochfort, et al.
Brain : a Journal of Neurology
|
March 7, 2022
Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient
Nicole J Van Bergen, Adhish S Walvekar, Carole L Linster, et al.
Mitochondrion
|
March 25, 2014
Oxidative phosphorylation measurement in cell lines and tissues
Nicole J Van Bergen, Rachel E Blake, Jonathan G Crowston, et al.
Journal of Glaucoma
|
February 20, 2009
Mitochondrial dysfunction and glaucoma
George Y X Kong, Nicole J Van Bergen, Ian A Trounce, et al.
Eye and Brain
|
May 26, 2017
Mitochondrial disorders and the eye
Nicole J Van Bergen, Rahul Chakrabarti, Evelyn C O'Neill, et al.
Stem Cell Research
|
January 9, 2025
Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency
Riley Hall, Tim Sikora, Annabelle Suter, et al.
Journal of Inherited Metabolic Disease
|
July 22, 2022
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
Nicole J Van Bergen, Adhish S Walvekar, Myrto Patraskaki, et al.
Page
of 6