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Pediatric Radiology
|
May 13, 2026
Neuroimaging in cerebral folate deficiencies
Asthik Biswas, Karanjot Chhatwal, Rahul Singh, et al.
Neurology. Genetics
|
November 27, 2024
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q<sub>10</sub> Biosynthesis Disorders
Azizia Wahedi, Sniya Sudhakar, Amanda Lam, et al.
Journal of Neurochemistry
|
January 4, 2014
The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells
Sean David Hughes, Marta Kanabus, Glenn Anderson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
January 29, 2013
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management
Victoria Nesbitt, Robert D S Pitceathly, Doug M Turnbull, et al.
Molecular Genetics and Metabolism
|
June 27, 2006
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II
Alistair T Pagnamenta, Iain P Hargreaves, Andrew J Duncan, et al.
Belitung Nursing Journal
|
July 27, 2023
Experiences of front-line nurses caring for patients with COVID-19 in Bangladesh: A qualitative study
Moustaq Karim Khan Rony, Shuvashish Das Bala, Md Moshiur Rahman, et al.
European Journal of Medical Genetics
|
January 13, 2023
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
Rebecca L Poole, Mihaly Badonyi, Alison Cozens, et al.
Annals of Neurology
|
May 31, 2023
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
Elizabeth M McCormick, Kierstin Keller, Julie P Taylor, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
August 3, 2016
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure
Patrick McKiernan, Sarah Ball, Saikat Santra, et al.
Journal of Neurology
|
October 1, 2014
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?
Olimpia Musumeci, Stefen Brady, Carmelo Rodolico, et al.
Page
of 19
Search research articles
Search
Showing results (91-100 of 182) with videos related to
Sort By:
Page
of 19
Pediatric Radiology
|
May 13, 2026
Neuroimaging in cerebral folate deficiencies
Asthik Biswas, Karanjot Chhatwal, Rahul Singh, et al.
Neurology. Genetics
|
November 27, 2024
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q<sub>10</sub> Biosynthesis Disorders
Azizia Wahedi, Sniya Sudhakar, Amanda Lam, et al.
Journal of Neurochemistry
|
January 4, 2014
The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells
Sean David Hughes, Marta Kanabus, Glenn Anderson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
January 29, 2013
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management
Victoria Nesbitt, Robert D S Pitceathly, Doug M Turnbull, et al.
Molecular Genetics and Metabolism
|
June 27, 2006
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II
Alistair T Pagnamenta, Iain P Hargreaves, Andrew J Duncan, et al.
Belitung Nursing Journal
|
July 27, 2023
Experiences of front-line nurses caring for patients with COVID-19 in Bangladesh: A qualitative study
Moustaq Karim Khan Rony, Shuvashish Das Bala, Md Moshiur Rahman, et al.
European Journal of Medical Genetics
|
January 13, 2023
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
Rebecca L Poole, Mihaly Badonyi, Alison Cozens, et al.
Annals of Neurology
|
May 31, 2023
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
Elizabeth M McCormick, Kierstin Keller, Julie P Taylor, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
August 3, 2016
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure
Patrick McKiernan, Sarah Ball, Saikat Santra, et al.
Journal of Neurology
|
October 1, 2014
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?
Olimpia Musumeci, Stefen Brady, Carmelo Rodolico, et al.
Page
of 19