Somayeh Bakhtiari

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari et al. · Nature Genetics · 2020 · 175 citations · Full text

Life Sciences, Genetics, Neuroscience +14

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne et al. · Brain · 2019 · 75 citations · Full text

Life Sciences, Genetics, Neurology +14

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Ralf A. Husain, Mona Grimmel, Matias Wagner et al. · The American Journal of Human Genetics · 2020 · 54 citations · Full text

Life Sciences, Genetics, Neurology +11

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler et al. · Nature Communications · 2019 · 53 citations · Full text

Life Sciences, Genetics, Neuroscience +17