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Page 1
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I. Huin V, et al. Among authors: caillaud c. Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377. Brain. 2020. PMID: 31855245 Free article.
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
Dozières-Puyravel B, Nasser H, Elmaleh-Bergès M, Lopez Hernandez E, Gelot A, Ilea A, Delanoë C, Puech JP, Caillaud C, Pichard S, Auvin S. Dozières-Puyravel B, et al. Among authors: caillaud c. Dev Med Child Neurol. 2020 Apr;62(4):528-530. doi: 10.1111/dmcn.14346. Epub 2019 Sep 5. Dev Med Child Neurol. 2020. PMID: 31489614 Free article.
Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue M, Dufour L, Lenglet T, Saleille L, Goizet C, Ayrignac X, Ory-Magne F, Barth M, Lamari F, Mandia D, Caillaud C, Nadjar Y. Masingue M, et al. Among authors: caillaud c. Ann Neurol. 2020 Apr;87(4):609-617. doi: 10.1002/ana.25689. Epub 2020 Feb 7. Ann Neurol. 2020. PMID: 31995250
Neuronal ceroid lipofuscinoses.
Chabrol B, Caillaud C, Minassian B. Chabrol B, et al. Among authors: caillaud c. Handb Clin Neurol. 2013;113:1701-6. doi: 10.1016/B978-0-444-59565-2.00038-1. Handb Clin Neurol. 2013. PMID: 23622391 Review.
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W, Benveniste O, Amelin D, Montagner C, Lamari F, Caillaud C, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O. Mauhin W, et al. Among authors: caillaud c. PLoS One. 2020 May 22;15(5):e0233460. doi: 10.1371/journal.pone.0233460. eCollection 2020. PLoS One. 2020. PMID: 32442237 Free PMC article.
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration.
Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F. Boutry M, et al. Among authors: caillaud c. Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098. Cell Rep. 2018. PMID: 29949766 Free PMC article.
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Mauhin W, Lidove O, Amelin D, Lamari F, Caillaud C, Mingozzi F, Dzangué-Tchoupou G, Arouche-Delaperche L, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Froissart R, Lacombe D, Ziza JM, Hachulla E, Benveniste O. Mauhin W, et al. Among authors: caillaud c. Orphanet J Rare Dis. 2018 Jul 31;13(1):127. doi: 10.1186/s13023-018-0877-4. Orphanet J Rare Dis. 2018. PMID: 30064518 Free PMC article.
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T. Chartier S, et al. Among authors: caillaud c. Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 7. Birth Defects Res. 2021. PMID: 34491000
264 results