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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Montaut S, Diedhiou N, Fahrer P, Marelli C, Lhermitte B, Robelin L, Vincent MC, Corti L, Taieb G, Gebus O, Rudolf G, Tarabeux J, Dondaine N, Canuet M, Almeras M, Benkirane M, Larrieu L, Chanson JB, Nadaj-Pakleza A, Echaniz-Laguna A, Cauquil C, Lannes B, Chelly J, Anheim M, Puccio H, Tranchant C. Montaut S, et al. Among authors: cauquil c. J Neurol. 2021 Sep;268(9):3337-3343. doi: 10.1007/s00415-021-10499-5. Epub 2021 Mar 5. J Neurol. 2021. PMID: 33666721
Anti-MAG antibodies in 202 patients: clinicopathological and therapeutic features.
Svahn J, Petiot P, Antoine JC, Vial C, Delmont E, Viala K, Steck AJ, Magot A, Cauquil C, Zarea A, Echaniz-Laguna A, Iancu Ferfoglia R, Gueguen A, Magy L, Léger JM, Kuntzer T, Ferraud K, Lacour A, Camdessanché JP; Francophone anti-MAG cohort Group. Svahn J, et al. Among authors: cauquil c. J Neurol Neurosurg Psychiatry. 2018 May;89(5):499-505. doi: 10.1136/jnnp-2017-316715. Epub 2017 Oct 25. J Neurol Neurosurg Psychiatry. 2018. PMID: 29070644 Clinical Trial.
Clinical characterisation of sensory neuropathy with anti-FGFR3 autoantibodies.
Tholance Y, Moritz CP, Rosier C, Ferraud K, Lassablière F, Reynaud-Federspiel E, França MC Jr, Martinez ARM, Camdessanché JP, Antoine JC; anti-FGFR3 antibody Study Group. Tholance Y, et al. J Neurol Neurosurg Psychiatry. 2020 Jan;91(1):49-57. doi: 10.1136/jnnp-2019-321849. Epub 2019 Nov 5. J Neurol Neurosurg Psychiatry. 2020. PMID: 31690697
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cortese A, et al. Among authors: cauquil c. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. Brain. 2020. PMID: 32040566 Free PMC article.
Brentuximab vedotin treatment associated with acute and chronic inflammatory demyelinating polyradiculoneuropathies.
Fargeot G, Dupel-Pottier C, Stephant M, Lazarovici J, Thomas L, Mouthon-Reignier C, Riad B, Carde P, Berzero G, Tafani C, Nicolas W, Viala K, Maisonobe T, Lenglet T, Wang A, Magy L, Bihan K, Gaspar N, Adams D, Echaniz-Laguna A, Cauquil C, Psimaras D. Fargeot G, et al. Among authors: cauquil c. J Neurol Neurosurg Psychiatry. 2020 Jul;91(7):786-788. doi: 10.1136/jnnp-2020-323124. Epub 2020 Apr 23. J Neurol Neurosurg Psychiatry. 2020. PMID: 32327451 No abstract available.
Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera.
Delmont E, Brodovitch A, Kouton L, Allou T, Beltran S, Brisset M, Camdessanché JP, Cauquil C, Cirion J, Dubard T, Echaniz-Laguna A, Grapperon AM, Jauffret J, Juntas-Morales R, Kremer LD, Kuntzer T, Labeyrie C, Lanfranco L, Maisonobe T, Mavroudakis N, Mecharles-Darrigol S, Nicolas G, Noury JB, Perie M, Rajabally YA, Remiche G, Rouaud V, Tard C, Salort-Campana E, Verschueren A, Viala K, Wang A, Attarian S, Boucraut J. Delmont E, et al. Among authors: cauquil c. J Neurol. 2020 Dec;267(12):3664-3672. doi: 10.1007/s00415-020-10041-z. Epub 2020 Jul 16. J Neurol. 2020. PMID: 32676765
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
Hauw F, Fargeot G, Adams D, Attarian S, Cauquil C, Chanson JB, Créange A, Gendre T, Deiva K, Delmont E, Francou B, Genestet S, Kuntzer T, Latour P, Le Masson G, Magy L, Nardin C, Ochsner F, Sole G, Stojkovic T, Maisonobe T, Tard C, Van den Berghe P, Echaniz-Laguna A. Hauw F, et al. Among authors: cauquil c. Eur J Neurol. 2021 Sep;28(9):2846-2854. doi: 10.1111/ene.14950. Epub 2021 Jun 23. Eur J Neurol. 2021. PMID: 34060689
80 results