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Page 1
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.
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.
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L. Abitbol M, et al. Among authors: caillaud c. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80. doi: 10.1073/pnas.0914206107. Epub 2010 Aug 2. Proc Natl Acad Sci U S A. 2010. PMID: 20679209 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
Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C. Giraud C, et al. Among authors: caillaud c. Biochem Biophys Res Commun. 2010 Feb 19;392(4):599-602. doi: 10.1016/j.bbrc.2010.01.088. Epub 2010 Jan 25. Biochem Biophys Res Commun. 2010. PMID: 20100466
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.
Serratrice C, Stirnemann J, Berrahal A, Belmatoug N, Camou F, Caillaud C, Billette de Villemeur T, Dalbies F, Cador B, Froissart R, Masseau A, Brassier A, Hivert B, Swiader L, Bertchansky I, de Moreuil C, Chabrol B, Durieu I, Leguy Seguin V, Astudillo L, Humbert S, Pichard S, Marcel C, Hau Rainsard I, Bengherbia M, Yousfi K, Berger MG. Serratrice C, et al. Among authors: caillaud c. J Clin Med. 2020 Jul 22;9(8):2343. doi: 10.3390/jcm9082343. J Clin Med. 2020. PMID: 32708003 Free PMC article.
264 results