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Items: 1 to 50 of 59

1.

Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.

Méneret A, Roze E, Maranci JB, Dodet P, Doummar D, Riant F, Tranchant C, Fraix V, Anheim M, Ekmen A, McGovern E, Vidailhet M, Arnulf I, Leu-Semenescu S.

J Clin Sleep Med. 2019 Jul 15;15(7):1021-1029. doi: 10.5664/jcsm.7886.

PMID:
31383240
2.

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Zimmern V, Riant F, Roze E, Ranza E, Lehmann-Horn F, Bellescize J, Ville D, Lesca G, Korff CM.

Neuropediatrics. 2019 Jun 21. doi: 10.1055/s-0039-1688410. [Epub ahead of print]

PMID:
31226716
3.

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.

Dev Med Child Neurol. 2019 May 21. doi: 10.1111/dmcn.14261. [Epub ahead of print]

PMID:
31115040
4.

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy.

Grangeon L, Guey S, Schwitalla JC, Bergametti F, Arnould M, Corpechot M, Hadjadj J, Riant F, Aloui C, Drunat S, Vidaud D, Tournier-Lasserve E, Kraemer M.

Stroke. 2019 Apr;50(4):789-796. doi: 10.1161/STROKEAHA.118.023972.

PMID:
30908154
5.

Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation.

Legris N, Chassin O, Nasser G, Riant F, Tournier-Lasserve E, Denier C.

J Stroke Cerebrovasc Dis. 2019 Feb;28(2):e3-e4. doi: 10.1016/j.jstrokecerebrovasdis.2018.10.021. Epub 2018 Nov 28.

PMID:
30501978
6.

A novel large deletion in CCM1 gene in a Tunisian family.

Tinsa F, Bel Hadj I, Riant F, Ben Romdhane M, Brini I, Tournier-Lasserve E, Louati H, Abdelhak S, Hamouda S, Boussetta K.

Rev Neurol (Paris). 2019 Mar;175(3):194-197. doi: 10.1016/j.neurol.2018.04.013. Epub 2018 Oct 9.

PMID:
30314744
7.

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Angelini C, Van Gils J, Bigourdan A, Jouk PS, Lacombe D, Menegon P, Moutton S, Riant F, Sole G, Tournier-Lasserve E, Trimouille A, Vincent M, Goizet C.

Eur J Med Genet. 2019 Jun;62(6):103530. doi: 10.1016/j.ejmg.2018.08.011. Epub 2018 Aug 22.

PMID:
30142438
8.

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.

Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12.

PMID:
29997391
9.

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.

Humbertclaude V, Krams B, Nogue E, Nagot N, Annequin D, Tourniaire B, Tournier-Lasserve E, Riant F, Roubertie A; Episodic Syndromes Consortium.

Dev Med Child Neurol. 2018 Dec;60(12):1256-1263. doi: 10.1111/dmcn.13935. Epub 2018 Jun 21.

PMID:
29926469
10.

Mutations in the netrin-1 gene cause congenital mirror movements.

Méneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guérois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chédotal A, Dusart I, Roze E, Markie D.

J Clin Invest. 2017 Nov 1;127(11):3923-3936. doi: 10.1172/JCI95442. Epub 2017 Sep 25.

11.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network.

Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081.

PMID:
28444220
12.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C.

Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.

13.

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.

Sellal F, Wallon D, Martinez-Almoyna L, Marelli C, Dhar A, Oesterlé H, Rovelet-Lecrux A, Rousseau S, Kourkoulis CE, Rosand J, DiPucchio ZY, Frosch M, Gombert C, Audoin B, Miné M, Riant F, Frebourg T, Hannequin D, Campion D, Greenberg SM, Tournier-Lasserve E, Nicolas G.

J Alzheimers Dis. 2017;56(1):37-46. doi: 10.3233/JAD-160709. Review.

PMID:
27858710
14.

Progressive ataxia related to PRRT2 gene mutation.

Castelnovo G, Renard D, De Verdal M, Luc J, Thouvenot E, Riant F.

J Neurol Sci. 2016 Aug 15;367:220-1. doi: 10.1016/j.jns.2016.05.058. Epub 2016 May 31. No abstract available.

PMID:
27423591
15.

Eye movement disorders are an early manifestation of CACNA1A mutations in children.

Tantsis EM, Gill D, Griffiths L, Gupta S, Lawson J, Maksemous N, Ouvrier R, Riant F, Smith R, Troedson C, Webster R, Menezes MP.

Dev Med Child Neurol. 2016 Jun;58(6):639-44. doi: 10.1111/dmcn.13033. Epub 2016 Jan 27.

16.

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.

Garaci F, Marsili L, Riant F, Marziali S, Cécillon M, Pasquarelli R, Sangiuolo F, Floris R, Novelli G, Tournier-Lasserve E, Brancati F.

Neuroradiol J. 2015 Jun;28(3):289-93. doi: 10.1177/1971400915591688.

17.

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.

Bisserbe A, Tertian G, Buffet C, Turhan A, Lambotte O, Nasser G, Alvin P, Tardieu M, Riant F, Bergametti F, Tournier-Lasserve E, Denier C.

Rev Neurol (Paris). 2015 May;171(5):445-9. doi: 10.1016/j.neurol.2015.01.566. Epub 2015 Apr 2.

PMID:
25843205
18.

Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy.

Nicolas G, Wallon D, Goupil C, Richard AC, Pottier C, Dorval V, Sarov-Rivière M, Riant F, Hervé D, Amouyel P, Guerchet M, Ndamba-Bandzouzi B, Mbelesso P, Dartigues JF, Lambert JC, Preux PM, Frebourg T, Campion D, Hannequin D, Tournier-Lasserve E, Hébert SS, Rovelet-Lecrux A.

Eur J Hum Genet. 2016 Jan;24(1):92-8. doi: 10.1038/ejhg.2015.61. Epub 2015 Apr 1.

19.

Occurrence of multiple Cerebral Cavernous Malformations in a patient with Neurofibromatosis type 1.

Rerat K, Parker F, Nasser G, Vidaud D, Riant F, Tournier-Lasserve E, Denier C.

J Neurol Sci. 2015 Mar 15;350(1-2):98-100. doi: 10.1016/j.jns.2015.02.023. Epub 2015 Feb 18.

PMID:
25702150
20.

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 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16.

PMID:
25595153
21.

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.

22.

Hyperkeratotic cutaneous vascular malformation associated with familial cerebral cavernous malformations (FCCM) with KRIT1/CCM1 mutation.

Feldmeyer L, Baumann-Vogel H, Tournier-Lasserve E, Riant F, Jung HH, French LE, Kamarashev J.

Eur J Dermatol. 2014 Mar-Apr;24(2):255-7. doi: 10.1684/ejd.2014.2280. No abstract available.

23.

Cerebral cavernous malformations arise independent of the heart of glass receptor.

Zheng X, Riant F, Bergametti F, Myers CD, Tang AT, Kleaveland B, Pan W, Yang J, Tournier-Lasserve E, Kahn ML.

Stroke. 2014 May;45(5):1505-1509. doi: 10.1161/STROKEAHA.114.004809. Epub 2014 Mar 18.

24.

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations.

Riant F, Odent S, Cecillon M, Pasquier L, de Baracé C, Carney MP, Tournier-Lasserve E.

Clin Genet. 2014 Dec;86(6):585-8. doi: 10.1111/cge.12322. Epub 2013 Dec 20.

PMID:
24251678
25.

Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy.

Montani D, Girerd B, Günther S, Riant F, Tournier-Lasserve E, Magy L, Maazi N, Guignabert C, Savale L, Sitbon O, Simonneau G, Soubrier F, Humbert M.

Eur Respir J. 2014 Feb;43(2):641-3. doi: 10.1183/09031936.00147013. Epub 2013 Oct 17. No abstract available.

26.

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.

Riant F, Bergametti F, Fournier HD, Chapon F, Michalak-Provost S, Cecillon M, Lejeune P, Hosseini H, Choe C, Orth M, Bernreuther C, Boulday G, Denier C, Labauge P, Tournier-Lasserve E.

Mol Syndromol. 2013 Apr;4(4):165-72. doi: 10.1159/000350042. Epub 2013 Apr 3.

27.

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Riant F, Cecillon M, Saugier-Veber P, Tournier-Lasserve E.

Neurogenetics. 2013 May;14(2):133-41. doi: 10.1007/s10048-013-0362-0. Epub 2013 Apr 18.

PMID:
23595507
28.

Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation.

Lambrecq V, Riant F, Tournier-Lasserve E, Michel V, Burbaud P.

Mov Disord. 2013 May;28(5):683. doi: 10.1002/mds.25450. Epub 2013 Mar 27. No abstract available.

PMID:
23536488
29.

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
30.

PRRT2 mutations and paroxysmal disorders.

Méneret A, Gaudebout C, Riant F, Vidailhet M, Depienne C, Roze E.

Eur J Neurol. 2013 Jun;20(6):872-8. doi: 10.1111/ene.12104. Epub 2013 Feb 9. Review.

PMID:
23398397
31.

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.

Castiglioni C, López I, Riant F, Bertini E, Terracciano A.

Eur J Paediatr Neurol. 2013 May;17(3):254-8. doi: 10.1016/j.ejpn.2012.10.010. Epub 2012 Nov 19.

PMID:
23182655
32.

Antithrombotic therapy and bleeding risk in a prospective cohort study of patients with cerebral cavernous malformations.

Schneble HM, Soumare A, Hervé D, Bresson D, Guichard JP, Riant F, Tournier-Lasserve E, Tzourio C, Chabriat H, Stapf C.

Stroke. 2012 Dec;43(12):3196-9. doi: 10.1161/STROKEAHA.112.668533. Epub 2012 Nov 13.

PMID:
23150651
33.

PRRT2 mutations cause hemiplegic migraine.

Riant F, Roze E, Barbance C, Méneret A, Guyant-Maréchal L, Lucas C, Sabouraud P, Trébuchon A, Depienne C, Tournier-Lasserve E.

Neurology. 2012 Nov 20;79(21):2122-4. doi: 10.1212/WNL.0b013e3182752cb8. Epub 2012 Oct 17.

PMID:
23077016
34.

[Hereditary episodic ataxia].

Riant F, Vahedi K, Tournier-Lasserve E.

Rev Neurol (Paris). 2011 May;167(5):401-7. doi: 10.1016/j.neurol.2010.10.016. Epub 2011 Apr 13. Review. French.

PMID:
21492892
35.

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

Riant F, Ducros A, Ploton C, Barbance C, Depienne C, Tournier-Lasserve E.

Neurology. 2010 Sep 14;75(11):967-72. doi: 10.1212/WNL.0b013e3181f25e8f.

PMID:
20837964
36.

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.

Anheim M, Maillart E, Vuillaumier-Barrot S, Flamand-Rouvière C, Pineau F, Ewenczyk C, Riant F, Apartis E, Roze E.

J Neurol. 2011 Feb;258(2):316-7. doi: 10.1007/s00415-010-5702-5. Epub 2010 Sep 10. No abstract available.

PMID:
20830593
37.

Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine.

Suzuki M, Van Paesschen W, Stalmans I, Horita S, Yamada H, Bergmans BA, Legius E, Riant F, De Jonghe P, Li Y, Sekine T, Igarashi T, Fujimoto I, Mikoshiba K, Shimadzu M, Shiohara M, Braverman N, Al-Gazali L, Fujita T, Seki G.

Proc Natl Acad Sci U S A. 2010 Sep 7;107(36):15963-8. doi: 10.1073/pnas.1008705107. Epub 2010 Aug 23.

38.

Phenotypic variability of episodic ataxia type 2 mutations: a family study.

Jung J, Testard H, Tournier-Lasserve E, Riant F, Vallet AE, Berroir S, Broussolle E.

Eur Neurol. 2010;64(2):114-6. doi: 10.1159/000315145. Epub 2010 Jul 15.

PMID:
20639635
39.

Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family.

Choe CU, Riant F, Gerloff C, Tournier-Lasserve E, Orth M.

J Neurol. 2010 Dec;257(12):2097-8. doi: 10.1007/s00415-010-5648-7. Epub 2010 Jul 11. No abstract available.

PMID:
20623299
40.

Familial form of typical childhood absence epilepsy in a consanguineous context.

Abouda H, Hizem Y, Gargouri A, Depienne C, Bouteiller D, Riant F, Tournier-Lasserve E, Gourfinkel-An I, LeGuern E, Gouider R.

Epilepsia. 2010 Sep;51(9):1889-93. doi: 10.1111/j.1528-1167.2010.02649.x.

41.

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.

Riant F, Bergametti F, Ayrignac X, Boulday G, Tournier-Lasserve E.

FEBS J. 2010 Mar;277(5):1070-5. doi: 10.1111/j.1742-4658.2009.07535.x. Epub 2010 Jan 22. Review.

42.

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.

Bertholon P, Chabrier S, Riant F, Tournier-Lasserve E, Peyron R.

J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1289-92. doi: 10.1136/jnnp.2008.159103.

PMID:
19864665
43.

Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.

Malpas TJ, Riant F, Tournier-Lasserve E, Vahedi K, Neville BG.

Dev Med Child Neurol. 2010 Jan;52(1):103-4. doi: 10.1111/j.1469-8749.2009.03493.x. Epub 2009 Oct 7. No abstract available.

44.

Identification of CACNA1A large deletions in four patients with episodic ataxia.

Riant F, Lescoat C, Vahedi K, Kaphan E, Toutain A, Soisson T, Wiener-Vacher SR, Tournier-Lasserve E.

Neurogenetics. 2010 Feb;11(1):101-6. doi: 10.1007/s10048-009-0208-y. Epub 2009 Jul 25.

PMID:
19633872
45.

Multiple dural lesions mimicking meningiomas in patients with CCM3/PDCD10 mutations.

Labauge P, Fontaine B, Neau JP, Bergametti F, Riant F, Blecon A, Marchelli F, Arnoult M, Lannuzel A, Clanet M, Olschwang S, Denier C, Tournier-Lasserve E.

Neurology. 2009 Jun 9;72(23):2044-6. doi: 10.1212/WNL.0b013e3181a92b13. No abstract available.

PMID:
19506228
46.

The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature.

Debiais S, Hommet C, Bonnaud I, Barthez MA, Rimbaux S, Riant F, Autret A.

Cephalalgia. 2009 Dec;29(12):1337-9. doi: 10.1111/j.1468-2982.2009.01884.x. Epub 2009 Apr 28. Review.

PMID:
19438926
47.

Late onset hereditary episodic ataxia.

Damak M, Riant F, Boukobza M, Tournier-Lasserve E, Bousser MG, Vahedi K.

J Neurol Neurosurg Psychiatry. 2009 May;80(5):566-8. doi: 10.1136/jnnp.2008.150615.

PMID:
19372292
48.

Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.

Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, Trouillard O, Gaudric A, Morris MA, Leguern E, Tournier-Lasserve E, Bousser MG.

Neurology. 2009 Mar 31;72(13):1178-83. doi: 10.1212/01.wnl.0000345393.53132.8c. Review.

PMID:
19332696
49.

Familial cerebral cavernomatous malformations associated with palmar capillary telangiectasias.

Ahdab R, Riant F, Brugières P, Roujeau JC, Hodel J, Hosseini H.

Neurology. 2008 Sep 9;71(11):861-2. doi: 10.1212/01.wnl.0000325474.61048.ae. No abstract available.

PMID:
18779516
50.

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.

Roubertie A, Echenne B, Leydet J, Soete S, Krams B, Rivier F, Riant F, Tournier-Lasserve E.

J Neurol. 2008 Oct;255(10):1600-2. doi: 10.1007/s00415-008-0982-8. Epub 2008 Sep 3. No abstract available.

PMID:
18758887

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