| Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 13138* | 2021 |
| Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 MC Moreira, S Klur, M Watanabe, AH Németh, IL Ber, JC Moniz, ... Nature genetics 36 (3), 225-227, 2004 | 567 | 2004 |
| The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy P Bomont, L Cavalier, F Blondeau, CB Hamida, S Belal, M Tazir, E Demir, ... Nature genetics 26 (3), 370-374, 2000 | 427 | 2000 |
| Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria XH Jaglin, K Poirier, Y Saillour, E Buhler, G Tian, N Bahi-Buisson, ... Nature genetics 41 (6), 746-752, 2009 | 371 | 2009 |
| Neurofilaments: neurobiological foundations for biomarker applications AR Gafson, NR Barthélemy, P Bomont, RO Carare, HD Durham, JP Julien, ... Brain 143 (7), 1975-1998, 2020 | 192 | 2020 |
| Unstable microtubule capture at kinetochores depleted of the centromere‐associated protein CENP‐F P Bomont, P Maddox, JV Shah, AB Desai, DW Cleveland The EMBO journal 24 (22), 3927-3939, 2005 | 139 | 2005 |
| Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation S Mahammad, SNP Murthy, A Didonna, B Grin, E Israeli, R Perrot, ... The Journal of clinical investigation 123 (5), 1964-1975, 2013 | 126 | 2013 |
| Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy E Colin, J Daniel, A Ziegler, J Wakim, A Scrivo, TB Haack, S Khiati, ... The American Journal of Human Genetics 99 (3), 695-703, 2016 | 95 | 2016 |
| Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23 P Bomont, M Watanabe, R Gershoni-Barush, M Shizuka, M Tanaka, ... European Journal of Human Genetics 8 (12), 986-990, 2000 | 83 | 2000 |
| Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies C Angebault, PO Guichet, Y Talmat-Amar, M Charif, S Gerber, ... The American Journal of Human Genetics 97 (5), 754-760, 2015 | 61 | 2015 |
| Giant axonal neuropathy: clinical and genetic study in six cases E Demir, P Bomont, S Erdem, L Cavalier, M Demirci, G Kose, S Muftuoglu, ... Journal of Neurology, Neurosurgery & Psychiatry 76 (6), 825-832, 2005 | 58 | 2005 |
| Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway DW Cleveland, K Yamanaka, P Bomont Human molecular genetics 18 (8), 1384-1394, 2009 | 57 | 2009 |
| Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1 F Dequen, P Bomont, G Gowing, DW Cleveland, JP Julien Journal of neurochemistry 107 (1), 253-264, 2008 | 55 | 2008 |
| Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization P Bomont, M Koenig Human molecular genetics 12 (8), 813-822, 2003 | 54 | 2003 |
| Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice T Ganay, A Boizot, R Burrer, JP Chauvin, P Bomont Molecular neurodegeneration 6, 1-12, 2011 | 51 | 2011 |
| Identification of seven novel mutations in the GAN gene P Bomont, C Ioos, C Yalcinkaya, R Korinthenberg, JM Vallat, S Assami, ... Human mutation 21 (4), 446-446, 2003 | 49 | 2003 |
| Gigaxonin E3 ligase governs ATG16L1 turnover to control autophagosome production A Scrivo, P Codogno, P Bomont Nature communications 10 (1), 780, 2019 | 45 | 2019 |
| The dazzling rise of neurofilaments: Physiological functions and roles as biomarkers P Bomont Current opinion in cell biology 68, 181-191, 2021 | 42 | 2021 |
| The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test A Boizot, Y Talmat-Amar, D Morrogh, NL Kuntz, C Halbert, B Chabrol, ... Acta neuropathologica communications 2, 1-12, 2014 | 32 | 2014 |
| Giant axonal neuropathy locus refinement to a< 590 kb critical interval L Cavalier, C BenHamida, R Amouri, S Belal, P Bomont, N Lagarde, ... European Journal of Human Genetics 8 (7), 527-534, 2000 | 28 | 2000 |
