Rawan Almass

<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

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

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Leslie E. Sanderson, Kristina Lanko, Maysoon Alsagob et al. · Brain · 2021 · 52 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways

Mazhor Aldosary, Albandary AlBakheet, Hesham Aldhalaan et al. · OMICS A Journal of Integrative Biology · 2020 · 28 citations

Life Sciences, Genetics, Molecular Genetics +17

Further delineation of the phenotypic spectrum of  ISCA2 defect: A report of ten new cases

Majid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai et al. · European Journal of Paediatric Neurology · 2017 · 27 citations

Life Sciences, Genetics, Molecular Genetics +3