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126 results

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Page 1
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N. Hully M, et al. Among authors: doummar d. Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17. Eur J Med Genet. 2015. PMID: 26193382
[Management of acute visual loss in children].
Doummar D, Roussat B, Pelosse B, Le Pointe HD, Iba-Zizen M, Roubergue A, Rodriguez D, de Villemeur TB. Doummar D, et al. Arch Pediatr. 2004 Nov;11(11):1384-8. doi: 10.1016/j.arcped.2004.04.005. Arch Pediatr. 2004. PMID: 15519841 Review. French.
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Roze E, Paschke E, Lopez N, Eck T, Yoshida K, Maurel-Ollivier A, Doummar D, Caillaud C, Galanaud D, Billette de Villemeur T, Vidailhet M, Roubergue A. Roze E, et al. Among authors: doummar d. Mov Disord. 2005 Oct;20(10):1366-9. doi: 10.1002/mds.20593. Mov Disord. 2005. PMID: 15986423 Review.
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network. Tezenas du Montcel S, et al. Among authors: doummar d. J Med Genet. 2006 May;43(5):394-400. doi: 10.1136/jmg.2005.036780. Epub 2005 Oct 14. J Med Genet. 2006. PMID: 16227522 Free PMC article.
[Movement disorders in children].
Roubertie A, Thobois S, de Saint Martin A, Billette de Villemeur T, Doummar D. Roubertie A, et al. Among authors: doummar d. Arch Pediatr. 2006 Jun;13(6):798-800. doi: 10.1016/j.arcped.2006.03.074. Epub 2006 May 11. Arch Pediatr. 2006. PMID: 16690306 French. No abstract available.
[Treatment of childhood dystonia].
Roubertie A, Roze E, Bahi-Buisson N, Payet C, Echenne B, Doummar D. Roubertie A, et al. Among authors: doummar d. Arch Pediatr. 2010 May;17(5):540-53. doi: 10.1016/j.arcped.2010.02.016. Epub 2010 Apr 1. Arch Pediatr. 2010. PMID: 20362421 Review. French.
Developmental and benign movement disorders in childhood.
Bonnet C, Roubertie A, Doummar D, Bahi-Buisson N, Cochen de Cock V, Roze E. Bonnet C, et al. Among authors: doummar d. Mov Disord. 2010 Jul 30;25(10):1317-34. doi: 10.1002/mds.22944. Mov Disord. 2010. PMID: 20564735 Review.
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.
Roubergue A, Apartis E, Mesnage V, Doummar D, Trocello JM, Roze E, Taieb G, De Villemeur TB, Vuillaumier-Barrot S, Vidailhet M, Levy R. Roubergue A, et al. Among authors: doummar d. J Inherit Metab Dis. 2011 Apr;34(2):483-8. doi: 10.1007/s10545-010-9264-6. Epub 2011 Jan 13. J Inherit Metab Dis. 2011. PMID: 21229316
126 results