Rajech Sharkia

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Martial Mallaret, Matthis Synofzik, Jae‐Ho Lee et al. · Brain · 2013 · 127 citations · Full text

Neurobiology Of Disease, Mendelian Disorder, Neurological Disorder +15

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Martina Minnerop, Delia Kurzwelly, Holger Wagner et al. · Brain · 2017 · 118 citations · Full text

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Holger Hengel, Rebecca Buchert, Marc Sturm et al. · European Journal of Human Genetics · 2020 · 34 citations · Full text

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Anja K. Mayer, Muhammad Mahajnah, Mervyn G. Thomas et al. · Brain · 2019 · 31 citations · Full text

Thumb Hypoplasia, Ocular Disease, Developmental Biology +12

<i>CNTNAP1</i> mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

Holger Hengel, Alex Magee, Muhammad Mahanjah et al. · Neurology Genetics · 2017 · 29 citations · Full text