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 · 2.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +9

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 · 521 citations · Full text

Life Sciences, Genetics, Molecular Biology +6

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 · 413 citations

Life Sciences, Genetics, Neuroscience +12

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

Xavier H. Jaglin, Karine Poirier, Yoann Saillour et al. · Nature Genetics · 2009 · 372 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

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 · 130 citations · Full text

Life Sciences, Neurology, Neuroscience +17