Mazhor Aldosary

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

John W. Yarham, Mazhor Aldosary, Emma L. Blakely et al. · Human Mutation · 2011 · 181 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

Moeenaldeen AlSayed, Hamad Alzaidan, Albandary AlBakheet et al. · The American Journal of Human Genetics · 2013 · 120 citations

Life Sciences, Genetics, Molecular Genetics +14

<i>ISCA2</i> mutation causes infantile neurodegenerative mitochondrial disorder

Zuhair N. Al‐Hassnan, Mazhor Aldosary, Majid Alfadhel et al. · Journal of Medical Genetics · 2014 · 99 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Helen Tuppen, Vanessa Hogan, Langping He et al. · Brain · 2010 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17