A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

Flemming Juul Hansen, N. Sörensen, John Vissing et al. · Brain · 2007 · 184 citations

Life Sciences, Genetics, Neurology +17

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi et al. · Human Molecular Genetics · 2017 · 89 citations · Full text

Medicine, Neurology, Neuroscience +15

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 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Noriko Miyake, Ryoko Fukai, Chihiro Ohba et al. · The American Journal of Human Genetics · 2016 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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 · 58 citations · Full text

Medicine, Genetics, Neurology +9