Majdi Kara

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 540 citations

Life Sciences, Genetics, Neuroscience +17

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

Dora C. Tărlungeanu, Elena Deliu, Christoph Dotter et al. · Cell · 2016 · 364 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16

Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy

Gaia Novarino, Paul El-Fishawy, Hülya Kayserili et al. · Science · 2012 · 312 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang et al. · Nature Genetics · 2015 · 216 citations · Full text

Life Sciences, Genetics, Neuroscience +14