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Items: 5

1.

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Collet TH, Dubern B, Mokrosinski J, Connors H, Keogh JM, Mendes de Oliveira E, Henning E, Poitou-Bernert C, Oppert JM, Tounian P, Marchelli F, Alili R, Le Beyec J, Pépin D, Lacorte JM, Gottesdiener A, Bounds R, Sharma S, Folster C, Henderson B, O'Rahilly S, Stoner E, Gottesdiener K, Panaro BL, Cone RD, Clément K, Farooqi IS, Van der Ploeg LHT.

Mol Metab. 2017 Oct;6(10):1321-1329. doi: 10.1016/j.molmet.2017.06.015. Epub 2017 Jul 8.

2.

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
3.

Genotype-phenotype correlations in cerebral cavernous malformations patients.

Denier C, Labauge P, Bergametti F, Marchelli F, Riant F, Arnoult M, Maciazek J, Vicaut E, Brunereau L, Tournier-Lasserve E; Société Française de Neurochirurgie.

Ann Neurol. 2006 Nov;60(5):550-6.

PMID:
17041941
4.

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.

Hum Mutat. 2005 Sep;26(3):281.

PMID:
16088919
5.

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.

Denier C, Labauge P, Brunereau L, Cavé-Riant F, Marchelli F, Arnoult M, Cecillon M, Maciazek J, Joutel A, Tournier-Lasserve E; Sociéte Française de Neurochirgurgie; Sociéte de Neurochirurgie de Langue Française.

Ann Neurol. 2004 Feb;55(2):213-20.

PMID:
14755725

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