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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: riant f. Neurology. 2020 Mar 31;94(13):e1378-e1385. doi: 10.1212/WNL.0000000000009175. Epub 2020 Mar 2. Neurology. 2020. PMID: 32123049
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. Roubergue A, et al. Among authors: riant f. Mov Disord. 2013 Sep;28(10):1457-9. doi: 10.1002/mds.25396. Epub 2013 Mar 8. Mov Disord. 2013. PMID: 23483595 No abstract available.
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. Méneret A, et al. Among authors: riant f. Neurology. 2014 Jun 3;82(22):1999-2002. doi: 10.1212/WNL.0000000000000477. Epub 2014 May 7. Neurology. 2014. PMID: 24808016 Free PMC article.
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. Delcourt M, et al. Among authors: riant f. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16. J Neurol Neurosurg Psychiatry. 2015. PMID: 25595153
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium. Panagiotakaki E, et al. Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5. Orphanet J Rare Dis. 2015. PMID: 26410222 Free PMC article.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Valence S, et al. Among authors: riant f. Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997391 Free article.
Cognitive impairment in children with CACNA1A mutations.
Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium. Humbertclaude V, et al. Among authors: riant f. Dev Med Child Neurol. 2020 Mar;62(3):330-337. doi: 10.1111/dmcn.14261. Epub 2019 May 21. Dev Med Child Neurol. 2020. PMID: 31115040 Free article.
80 results