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Results: 1 to 20 of 46

1.

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, Humbertclaude V, Korff C, Des Portes V, Szepetowski P, Doummar D, Echenne B, Quintin S, Leboucq N, Singh Amrathlal R, Rochette J, Roubertie A.

J Neurol Neurosurg Psychiatry. 2015 Jan 16. pii: jnnp-2014-309025. doi: 10.1136/jnnp-2014-309025. [Epub ahead of print]

PMID:
25595153
[PubMed - as supplied by publisher]
2.

Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.

Milosevic J, El Khattabi L, Roubergue A, Coussement A, Doummar D, Cuisset L, Le Tessier D, Flageul B, Viot G, Lebbar A, Dupont JM.

Am J Med Genet A. 2014 Dec;164A(12):3180-6. doi: 10.1002/ajmg.a.36777. Epub 2014 Sep 24.

PMID:
25257167
[PubMed - in process]
3.

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.

Di Filippo M, Moulin P, Roy P, Samson-Bouma ME, Collardeau-Frachon S, Chebel-Dumont S, Peretti N, Dumortier J, Zoulim F, Fontanges T, Parini R, Rigoldi M, Furlan F, Mancini G, Bonnefont-Rousselot D, Bruckert E, Schmitz J, Scoazec JY, Charrière S, Villar-Fimbel S, Gottrand F, Dubern B, Doummar D, Joly F, Liard-Meillon ME, Lachaux A, Sassolas A.

J Hepatol. 2014 Oct;61(4):891-902. doi: 10.1016/j.jhep.2014.05.023. Epub 2014 May 16.

PMID:
24842304
[PubMed - in process]
4.

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, Dale RC, Sklower Brooks S, Dziezyc K, Pollak P, Golmard JL, Vidailhet M, Brice A, Roze E.

Neurology. 2014 Jun 3;82(22):1999-2002. doi: 10.1212/WNL.0000000000000477. Epub 2014 May 7.

PMID:
24808016
[PubMed - indexed for MEDLINE]
5.

Distinct neurological disorders with ATP1A3 mutations.

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group.

Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Review.

PMID:
24739246
[PubMed - indexed for MEDLINE]
6.

Simultaneous determination of all forms of biopterin and neopterin in cerebrospinal fluid.

Guibal P, Lévêque N, Doummar D, Giraud N, Roze E, Rodriguez D, Couderc R, Billette De Villemeur T, Moussa F.

ACS Chem Neurosci. 2014 Jul 16;5(7):533-41. doi: 10.1021/cn4001928. Epub 2014 Apr 8.

PMID:
24650440
[PubMed - in process]
7.

Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.

Roubergue A, Philibert B, Gautier A, Kuster A, Markowicz K, Billette de Villemeur T, Vuillaumier-Barrot S, Nicole S, Roze E, Doummar D.

JIMD Rep. 2015;15:7-12. doi: 10.1007/8904_2013_292. Epub 2014 Feb 16.

PMID:
24532324
[PubMed]
Free PMC Article
8.

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G.

Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13.

PMID:
24375629
[PubMed - indexed for MEDLINE]
9.

GLUT1 deficiency syndrome: an update.

Gras D, Roze E, Caillet S, Méneret A, Doummar D, Billette de Villemeur T, Vidailhet M, Mochel F.

Rev Neurol (Paris). 2014 Feb;170(2):91-9. doi: 10.1016/j.neurol.2013.09.005. Epub 2013 Nov 20. Review.

PMID:
24269118
[PubMed - indexed for MEDLINE]
10.

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P.

Nat Genet. 2013 Sep;45(9):1061-6. doi: 10.1038/ng.2726. Epub 2013 Aug 11.

PMID:
23933820
[PubMed - indexed for MEDLINE]
11.

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L.

Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80.

PMID:
23692823
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, Faudet A, Fonteneau E, Amiet C, Laurent C, Jacquette A, Whalen S, Afenjar A, Périsse D, Doummar D, Dorison N, Leboyer M, Siffroi JP, Cohen D, Brice A, Héron D, Depienne C.

Eur J Hum Genet. 2014 Jan;22(1):71-8. doi: 10.1038/ejhg.2013.88. Epub 2013 May 1.

PMID:
23632794
[PubMed - in process]
Free PMC Article
13.

The multiple faces of the ATP1A3-related dystonic movement disorder.

Roubergue A, Roze E, Vuillaumier-Barrot S, Fontenille MJ, Méneret A, Vidailhet M, Fontaine B, Doummar D, Philibert B, Riant F, Nicole S.

Mov Disord. 2013 Sep;28(10):1457-9. doi: 10.1002/mds.25396. Epub 2013 Mar 8. No abstract available.

PMID:
23483595
[PubMed - indexed for MEDLINE]
14.

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium.

Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323.

PMID:
23365099
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D.

J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24.

PMID:
22832740
[PubMed - indexed for MEDLINE]
16.

PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.

Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E.

Neurology. 2012 Jul 10;79(2):170-4. doi: 10.1212/WNL.0b013e31825f06c3. Epub 2012 Jun 27.

PMID:
22744660
[PubMed - indexed for MEDLINE]
17.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C.

J Med Genet. 2012 Jun;49(6):400-8. doi: 10.1136/jmedgenet-2012-100856.

PMID:
22693284
[PubMed - indexed for MEDLINE]
18.

MFN2, a new gene responsible for mitochondrial DNA depletion.

Renaldo F, Amati-Bonneau P, Slama A, Romana C, Forin V, Doummar D, Barnerias C, Bursztyn J, Mayer M, Khouri N, Billette de Villemeur T, Burglen L, Reynier P, Bernabe Gelot A, Rodriguez D.

Brain. 2012 Aug;135(Pt 8):e223, 1-4; author reply e224, 1-3. doi: 10.1093/brain/aws111. Epub 2012 May 3. No abstract available.

PMID:
22556188
[PubMed - indexed for MEDLINE]
Free Article
19.

The use of harmonic scalpel in spinal surgery with contraindication to the use of monopolar electrocautery: a case report in a 14-year-old girl with a primary generalized dystonia and a 100° thoracic scoliosis.

Bouyer B, Bachy M, Vermesch AI, Doummar D, Coubes P, Vialle R.

Childs Nerv Syst. 2012 Aug;28(8):1251-5. doi: 10.1007/s00381-012-1757-1. Epub 2012 Apr 29. No abstract available.

PMID:
22543430
[PubMed - indexed for MEDLINE]
20.

Treatment for dystonia in childhood.

Roubertie A, Mariani LL, Fernandez-Alvarez E, Doummar D, Roze E.

Eur J Neurol. 2012 Oct;19(10):1292-9. doi: 10.1111/j.1468-1331.2011.03649.x. Epub 2012 Jan 31. Review.

PMID:
22289078
[PubMed - indexed for MEDLINE]
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