Riant F - Search Results

1

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. Angelini C, et al. Among authors: riant f. Eur J Med Genet. 2019 Jun;62(6):103530. doi: 10.1016/j.ejmg.2018.08.011. Epub 2018 Aug 22. Eur J Med Genet. 2019. PMID: 30142438

2

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway.

Joutel A, Monet M, Domenga V, Riant F, Tournier-Lasserve E. Joutel A, et al. Among authors: riant f. Am J Hum Genet. 2004 Feb;74(2):338-47. doi: 10.1086/381506. Epub 2004 Jan 8. Am J Hum Genet. 2004. PMID: 14714274 Free PMC article.

3

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F, De Fusco M, Aridon P, Ducros A, Ploton C, Marchelli F, Maciazek J, Bousser MG, Casari G, Tournier-Lasserve E. Riant F, et al. Hum Mutat. 2005 Sep;26(3):281. doi: 10.1002/humu.9361. Hum Mutat. 2005. PMID: 16088919

4

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.

Fouillade C, Chabriat H, Riant F, Mine M, Arnoud M, Magy L, Bousser MG, Tournier-Lasserve E, Joutel A. Fouillade C, et al. Among authors: riant f. Hum Mutat. 2008 Mar;29(3):452. doi: 10.1002/humu.9527. Hum Mutat. 2008. PMID: 18273901

5

Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation.

Lebas A, Guyant-Maréchal L, Hannequin D, Riant F, Tournier-Lasserve E, Parain D. Lebas A, et al. Among authors: riant f. Cephalalgia. 2008 Jul;28(7):774-7. doi: 10.1111/j.1468-2982.2008.01603.x. Epub 2008 May 21. Cephalalgia. 2008. PMID: 18498390

6

Large CACNA1A deletion in a family with episodic ataxia type 2.

Riant F, Mourtada R, Saugier-Veber P, Tournier-Lasserve E. Riant F, et al. Arch Neurol. 2008 Jun;65(6):817-20. doi: 10.1001/archneur.65.6.817. Arch Neurol. 2008. PMID: 18541804

7

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. Roubertie A, et al. Among authors: riant f. J Neurol. 2008 Oct;255(10):1600-2. doi: 10.1007/s00415-008-0982-8. Epub 2008 Sep 3. J Neurol. 2008. PMID: 18758887 No abstract available.

8

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. Vahedi K, et al. Among authors: riant f. Neurology. 2009 Mar 31;72(13):1178-83. doi: 10.1212/01.wnl.0000345393.53132.8c. Neurology. 2009. PMID: 19332696 Review.

9

Late onset hereditary episodic ataxia.

Damak M, Riant F, Boukobza M, Tournier-Lasserve E, Bousser MG, Vahedi K. Damak M, et al. Among authors: riant f. J Neurol Neurosurg Psychiatry. 2009 May;80(5):566-8. doi: 10.1136/jnnp.2008.150615. J Neurol Neurosurg Psychiatry. 2009. PMID: 19372292

10

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. Riant F, et al. Neurogenetics. 2010 Feb;11(1):101-6. doi: 10.1007/s10048-009-0208-y. Epub 2009 Jul 25. Neurogenetics. 2010. PMID: 19633872

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