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Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Among authors: duyckaerts c. Genet Med. 2021 Oct;23(10):2021. doi: 10.1038/s41436-020-01064-y. Genet Med. 2021. PMID: 33353973 Free article. No abstract available.
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases.
Takahashi J, Fujigasaki H, Iwabuchi K, Bruni AC, Uchihara T, El Hachimi KH, Stevanin G, Dürr A, Lebre AS, Trottier Y, de Thé H, Tanaka J, Hauw JJ, Duyckaerts C, Brice A. Takahashi J, et al. Among authors: duyckaerts c. Neurobiol Dis. 2003 Aug;13(3):230-7. doi: 10.1016/s0969-9961(03)00080-9. Neurobiol Dis. 2003. PMID: 12901837
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.
Murmu RP, Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G. Murmu RP, et al. Among authors: duyckaerts c. Mol Cell Neurosci. 2011 Jul;47(3):191-202. doi: 10.1016/j.mcn.2011.04.004. Epub 2011 Apr 27. Mol Cell Neurosci. 2011. PMID: 21545838
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger N, Vighetto A, Desestret V, Tesson C, Wichmann HE, Illig T, Huttenlocher J, Kita Y, Izumi Y, Mizusawa H, Schöls L, Klopstock T, Brice A, Ishikawa K, Dürr A. Obayashi M, et al. Among authors: duyckaerts c. J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):986-95. doi: 10.1136/jnnp-2014-309153. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476002
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Le Ber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P, Stevanin G. Coutelier M, et al. Among authors: duyckaerts c. Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8. Am J Hum Genet. 2015. PMID: 26456284 Free PMC article.
Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.
Fournier C, Anquetil V, Camuzat A, Stirati-Buron S, Sazdovitch V, Molina-Porcel L, Turbant S, Rinaldi D, Sánchez-Valle R, Barbier M, Latouche M; Neuro-CEB Neuropathology Network; Stevanin G, Seilhean D, Brice A, Duyckaerts C, Le Ber I. Fournier C, et al. Among authors: duyckaerts c. Acta Neuropathol Commun. 2018 May 30;6(1):41. doi: 10.1186/s40478-018-0547-8. Acta Neuropathol Commun. 2018. PMID: 29848387 Free PMC article. No abstract available.
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A; SPATAX network. Parodi L, et al. Among authors: duyckaerts c. Brain. 2018 Dec 1;141(12):3331-3342. doi: 10.1093/brain/awy285. Brain. 2018. PMID: 30476002
475 results