Mustafa A. Salih

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Hiroshi Takashima, Cornelius F. Boerkoel, Joy John et al. · Nature Genetics · 2002 · 521 citations

Genome Instability, Neurodegenerative Diseases, Molecular Neuroscience +10

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin et al. · Cell Reports · 2014 · 465 citations · Full text

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

Alessandra Bolino, M. Muglia, F. L. Conforti et al. · Nature Genetics · 2000 · 457 citations

Myotubularin-related Protein-2, Mendelian Disorder, Genetic Disorder +7

Mutations in a Human <i>ROBO</i> Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Joanna C. Jen, Wai‐Man Chan, Thomas M. Bosley et al. · Science · 2004 · 381 citations · Full text

Axon Guidance, Molecular Neuroscience, Developmental Biology +15

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

Max A. Tischfield, Thomas M. Bosley, Mustafa A. Salih et al. · Nature Genetics · 2005 · 302 citations

Neuropsychology, Developmental Biology, Developmental Cognitive Neuroscience +10