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Year Number of Results
1993 3
1998 1
1999 1
2000 2
2005 1
2006 1
2007 1
2015 2
2024 0

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11 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: cournelle ma. 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
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A. Coutelier M, et al. Among authors: cournelle ma. Neurology. 2015 Apr 28;84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3. Neurology. 2015. PMID: 25841024
[Breast feeding: what role for the pediatrician].
Le Menestrel S, André N, Cournelle MA, Millet V. Le Menestrel S, et al. Among authors: cournelle ma. Arch Pediatr. 1998 Jun;5(6):696-7. doi: 10.1016/s0929-693x(98)80184-x. Arch Pediatr. 1998. PMID: 9759222 French. No abstract available.
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: cournelle ma. 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.
L-2-hydroxyglutaric aciduria: two further cases.
Divry P, Jakobs C, Vianey-Saban C, Gibson KM, Michelakakis H, Papadimitriou A, Divari R, Chabrol B, Cournelle MA, Livet MO. Divry P, et al. Among authors: cournelle ma. J Inherit Metab Dis. 1993;16(3):505-7. doi: 10.1007/BF00711666. J Inherit Metab Dis. 1993. PMID: 7609438 No abstract available.
[Information for the epileptic child].
Livet MO, Cournelle MA, Billard C, Motte J. Livet MO, et al. Among authors: cournelle ma. Arch Pediatr. 2000 May;7 Suppl 2:190s-192s. doi: 10.1016/s0929-693x(00)80033-0. Arch Pediatr. 2000. PMID: 10904706 French. No abstract available.
[Neuropsychological phenotypes of genetic diseases].
Livet MO, Cournelle MA, Moncla A, Mancini J. Livet MO, et al. Among authors: cournelle ma. Arch Pediatr. 2000 May;7 Suppl 2:112s-113s. doi: 10.1016/s0929-693x(00)80003-2. Arch Pediatr. 2000. PMID: 10904676 French. No abstract available.
11 results