Pascale Bomont

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)¹

Daniel J. Klionsky, Amal Kamal Abdel‐Aziz, Sara Abdelfatah et al. · Autophagy · 2021 · 2.5K citations · Full text

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Maria-Ceù Moreira, Sandra Klur, Andrea H. Németh et al. · Nature Genetics · 2004 · 518 citations · Full text

Yeast Rna Helicase, Natural Sciences, Genetics +7

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Pascale Bomont, L Cavalier, F Blondeau et al. · Nature Genetics · 2000 · 410 citations

Neuroregeneration, Molecular Neuroscience, Giant Axonal Neuropathy +11

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Xavier H. Jaglin, Karine Poirier, Yoann Saillour et al. · Nature Genetics · 2009 · 365 citations · Full text

Biology, Natural Sciences, Genetics +5

Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation

Saleemulla Mahammad, S. N. Prasanna Murthy, Alessandro Didonna et al. · Journal of Clinical Investigation · 2013 · 126 citations · Full text

Cytoskeleton, Synaptic Signaling, Social Sciences +20