Amira Masri

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 526 citations · Full text

Neurological Disorder, Genetics, Network Analysis +18

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 252 citations

Biology, Plant Biology, Genetics +5

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 134 citations · Full text

Cell Autophagy, Mitophagy, Biallelic Mutations +10

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

Wen Fan Hu, Oz Pomp, Tawfeg Ben‐Omran et al. · Neuron · 2014 · 100 citations · Full text

Developmental Biology, Cilia Number, Genetics +7

Deletions in <i>GRID2</i> lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

L. Benjamin Hills, Amira Masri, Kotaro Konno et al. · Neurology · 2013 · 100 citations · Full text