Sergio Padilla‐Lopez

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari et al. · Nature Genetics · 2020 · 170 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

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 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10

Saccharomyces cerevisiae Lacking Btn1p Modulate Vacuolar ATPase Activity to Regulate pH Imbalance in the Vacuole

Sergio Padilla‐Lopez, David A. Pearce · Journal of Biological Chemistry · 2006 · 81 citations · Full text

Molecular Biology, Yeast Cells, Cellular Ph Homeostasis +18

Nitric Oxide Signaling Is Disrupted in the Yeast Model for Batten Disease

Nuno S. Osório, Agostinho Carvalho, Agostinho J. Almeida et al. · Molecular Biology of the Cell · 2007 · 57 citations · Full text

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Marianna Madeo, Michelle Stewart, Yuyang Sun et al. · The American Journal of Human Genetics · 2016 · 51 citations · Full text

Neurological Disorder, Frrs1l Lead, Neurology +5