Antonella Sferra

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Elisabetta Flex, Marcello Niceta, Serena Cecchetti et al. · The American Journal of Human Genetics · 2016 · 78 citations · Full text

Biallelic Mutations, Perturb Microtubule Dynamics, Molecular Biology +6

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

Antonella Sferra, Gilbert Baillat, Teresa Rizza et al. · The American Journal of Human Genetics · 2016 · 57 citations · Full text

Neurodegenerative Diseases, Neurological Disorder, Genetic Disorder +6

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

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

Antonella Sferra, Fabiana Fattori, Teresa Rizza et al. · Human Molecular Genetics · 2018 · 40 citations · Full text

Neurodegenerative Diseases, Mitotic Spindle Bipolarity, Protein Function +14

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

Antonella Sferra, Stefania Petrini, Emanuele Bellacchio et al. · International Journal of Molecular Sciences · 2020 · 33 citations · Full text

Altered Vesicle Trafficking, Neurogenomics, Extracellular Microvesicles +24