V. Branković

Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Francesco Nicita, Monia Ginevrino, Lorena Travaglini et al. · Journal of Medical Genetics · 2020 · 43 citations

Cardiac phenotype in <i>ATP1A3</i> -related syndromes

Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez‐García‐Rovés et al. · Neurology · 2020 · 43 citations · Full text

Developmental and epilepsy spectrum of <i>KCNB1</i> encephalopathy with long‐term outcome

Claire Bar, Mathieu Kuchenbuch, Giulia Barcia et al. · Epilepsia · 2020 · 36 citations · Full text

Mutations in the <scp>IRBIT</scp> domain of <i><scp>ITPR1</scp></i> are a frequent cause of autosomal dominant nonprogressive congenital ataxia

Sabina Barresi, Marcello Niceta, Paolo Alfieri et al. · Clinical Genetics · 2016 · 33 citations

Neurogenomics, Ataxia Genes, Genetics +25

De Novo and Dominantly Inherited <scp><i>SPTAN1</i></scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer et al. · Movement Disorders · 2022 · 25 citations · Full text