Coro Paisán‐Ruiz

The Sac1 Domain of <i> <scp>SYNJ</scp> 1 </i> Identified Mutated in a Family with Early‐Onset Progressive <scp>P</scp> arkinsonism with Generalized Seizures

Catharine E. Krebs, Siamak Karkheiran, James Powell et al. · Human Mutation · 2013 · 339 citations · Full text

Life Sciences, Genetics, Neurology +15

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

Ramona Haji‐Seyed‐Javadi, Sahar Jelodari-Mamaghani, Seyed Hassan Paylakhi et al. · Human Mutation · 2012 · 126 citations

Life Sciences, Genetics, Molecular Genetics +14

R632W mutation in <i>PLA2G6</i> segregates with dystonia‐parkinsonism in a consanguineous Iranian family

Farzad Sina, Seyed Mehdi Shojaee, Elahe Elahi et al. · European Journal of Neurology · 2008 · 95 citations

Life Sciences, Genetics, Molecular Genetics +15

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

Shaghayegh Taghavi, Rita Chaouni, Abbas Tafakhori et al. · Molecular Neurobiology · 2017 · 87 citations

Life Sciences, Genetics, Molecular Genetics +16

Mutations in gamma adducin are associated with inherited cerebral palsy

Michael C. Kruer, Tyler Jepperson, Sudeshna Dutta et al. · Annals of Neurology · 2013 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16