M. Al-Dosary

发表

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

Olfat Al-Harazi, N. Kaya, D. Çolak, 2014, Journal of Medical Genetics.

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly

N. Kaya, D. Çolak, E. Faqeih, 2014, American journal of medical genetics. Part A.

Clinical/scientific Notes Supplemental Data at Neurology.org the M.13051g.a Mitochondrial Dna Mutation Results in Variable Neurology and Activated Mitophagy We Also Have Additional Data Supporting the Same Effect in Fibroblasts from Other Classical Mitochondrial

Robert W. Taylor, S. Hickman, P. Yu-Wai-Man, 2022 .

A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis.

C. Ackerley, E. Tam, S. Blaser, 2008, Neuropediatrics.

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

N. Kaya, D. Çolak, Y. Lakmache, 2013, American journal of human genetics.

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

N. Kaya, Z. Al-Hassnan, M. Al-Owain, 2016, Intractable & rare diseases research.

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

Robert W. Taylor, J. Elson, C. Alston, 2011, Human mutation.

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

Robert W. Taylor, S. Mansour, G. Saretzki, 2010, Brain : a journal of neurology.

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Robert W. Taylor, R. Weleber, R. Wibom, 2012, European Journal of Human Genetics.

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue

Robert W. Taylor, R. Weleber, R. Wibom, 2012 .

Neuromuscular disease presentation with three genetic defects involving two genomes

Robert W. Taylor, D. Turnbull, J. Goodship, 2009, Neuromuscular Disorders.

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Robert W. Taylor, R. Weleber, R. Wibom, 2012, European Journal of Human Genetics.

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

J. Elson, C. Alston, R. Mcfarland, 2011, Human mutation.