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Journal of Inherited Metabolic Disease
|
April 26, 2019
Recent advances in understanding the molecular genetic basis of mitochondrial disease
Kyle Thompson, Jack J Collier, Ruth I C Glasgow, et al.
Nature Communications
|
June 25, 2025
The mitochondrial methylation potential gates mitoribosome assembly
Ruth I C Glasgow, Vivek Singh, Lucía Peña-Pérez, et al.
Neurogenetics
|
October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Ruth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
Scientific Reports
|
March 27, 2019
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement
Elena Perli, Annalinda Pisano, Ruth I C Glasgow, et al.
Human Molecular Genetics
|
June 3, 2026
MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment
Ruth I C Glasgow, Finn Lennartsson, Snjolaug Arnardottir, et al.
American Journal of Human Genetics
|
September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Charlotte L Alston, Juliana Heidler, Marris G Dibley, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics
|
December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 8) with videos related to
Sort By:
Page
of 1
Journal of Inherited Metabolic Disease
|
April 26, 2019
Recent advances in understanding the molecular genetic basis of mitochondrial disease
Kyle Thompson, Jack J Collier, Ruth I C Glasgow, et al.
Nature Communications
|
June 25, 2025
The mitochondrial methylation potential gates mitoribosome assembly
Ruth I C Glasgow, Vivek Singh, Lucía Peña-Pérez, et al.
Neurogenetics
|
October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Ruth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
Scientific Reports
|
March 27, 2019
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement
Elena Perli, Annalinda Pisano, Ruth I C Glasgow, et al.
Human Molecular Genetics
|
June 3, 2026
MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment
Ruth I C Glasgow, Finn Lennartsson, Snjolaug Arnardottir, et al.
American Journal of Human Genetics
|
September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Charlotte L Alston, Juliana Heidler, Marris G Dibley, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics
|
December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Page
of 1