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Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
Cousyn L, Demeret S, Philippi A, Bergametti F, Villa C, Morbini P, Riant F, Soulier J, Tournier-Lasserve E, Denier C. Cousyn L, et al. Among authors: bergametti f. J Neurol Neurosurg Psychiatry. 2023 Dec 14;95(1):98-100. doi: 10.1136/jnnp-2023-331260. J Neurol Neurosurg Psychiatry. 2023. PMID: 37451692 No abstract available.
Genetics of cavernous angiomas.
Labauge P, Denier C, Bergametti F, Tournier-Lasserve E. Labauge P, et al. Among authors: bergametti f. Lancet Neurol. 2007 Mar;6(3):237-44. doi: 10.1016/S1474-4422(07)70053-4. Lancet Neurol. 2007. PMID: 17303530 Review.
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. Labauge P, et al. Among authors: bergametti f. Neurology. 2009 Jun 9;72(23):2044-6. doi: 10.1212/WNL.0b013e3181a92b13. Neurology. 2009. PMID: 19506228 No abstract available.
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. Riant F, et al. Among authors: bergametti f. Mol Syndromol. 2013 Apr;4(4):165-72. doi: 10.1159/000350042. Epub 2013 Apr 3. Mol Syndromol. 2013. PMID: 23801932 Free PMC article.
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
Hervé D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau-Frachon S, Bergametti F, Essongue A, Berrou E, Krivosic V, Sainte-Rose C, Houdart E, Adam F, Billiemaz K, Lebret M, Roman S, Passemard S, Boulday G, Delaforge A, Guey S, Dray X, Chabriat H, Brouckaert P, Bryckaert M, Tournier-Lasserve E. Hervé D, et al. Among authors: bergametti f. Am J Hum Genet. 2014 Mar 6;94(3):385-94. doi: 10.1016/j.ajhg.2014.01.018. Epub 2014 Feb 27. Am J Hum Genet. 2014. PMID: 24581742 Free PMC article.
33 results