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Page 1
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
Panagiotakaki E, Doummar D, Nogue E, Nagot N, Lesca G, Riant F, Nicole S, Delaygue C, Barthez MA, Nassogne MC, Dusser A, Vallée L, Billette T, Bourgeois M, Ioos C, Gitiaux C, Laroche C, Milh M, Portes VD, Arzimanoglou A, Roubertie A; AHC–Movement Disorder Study Group. Panagiotakaki E, et al. Among authors: dusser a. Neurology. 2020 Mar 31;94(13):e1378-e1385. doi: 10.1212/WNL.0000000000009175. Epub 2020 Mar 2. Neurology. 2020. PMID: 32123049
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Depienne C, et al. Among authors: dusser a. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue MA, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan JM, Pichard S, Valayannopoulos V, Verloes A, Levade T. Sabourdy F, et al. Among authors: dusser a. Orphanet J Rare Dis. 2015 Mar 15;10:31. doi: 10.1186/s13023-015-0244-7. Orphanet J Rare Dis. 2015. PMID: 25885655 Free PMC article.
[Epilepsy presenting as life-threatening events in infants].
Heissessen L, Dusser A, Nouirygat V, Navelet Y, Charollais A, Husson B, Landrieu P. Heissessen L, et al. Among authors: dusser a. Arch Pediatr. 2000 Sep;7(9):955-60. doi: 10.1016/s0929-693x(00)90010-1. Arch Pediatr. 2000. PMID: 11028203 French.
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C. Thierry G, et al. Among authors: dusser a. Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678713 Free article.
Varicella-associated pancytopenia.
Bader-Meunier B, Dusser A, Mersh JM, Landrieu P, Dussaix E, Tchernia G. Bader-Meunier B, et al. Among authors: dusser a. Eur J Pediatr. 1990 Aug;149(11):810-1. doi: 10.1007/BF01957291. Eur J Pediatr. 1990. PMID: 2226562 No abstract available.
18 results