Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Michaelle Cecillon"'
Autor:
H.-D. Fournier, C. Choe, Elisabeth Tournier-Lasserve, Florence Riant, F Chapon, G. Boulday, Michaelle Cecillon, C. Denier, C. Bernreuther, S. Michalak-Provost, Françoise Bergametti, Michael Orth, P. Lejeune, H. Hosseini, P Labauge
Publikováno v:
Molecular Syndromology. 4:165-172
Mutations of CCM3/PDCD10 cause 10-15% of hereditary cerebral cavernous malformations. The phenotypic characterization of CCM3-mutated patients has been hampered by the limited number of patients harboring a mutation in this gene. This is the first re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c26271f88c916615e1a8b13079de49d9
https://doi.org/10.1159/000350042
https://doi.org/10.1159/000350042
Autor:
Michaelle Cecillon, R Pasquarelli, Roberto Floris, Francesco Garaci, Francesco Brancati, Federica Sangiuolo, Elisabeth Tournier-Lasserve, Simone Marziali, Luisa Marsili, Florence Riant, Giuseppe Novelli
Multiple familial meningiomas occur in rare genetic syndromes, particularly neurofibromatosis type 2. The association of meningiomas and cerebral cavernous malformations (CCMs) has been reported in few patients in the medical literature. The purpose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02824b5a0df32fb59650ec639db31a7b
https://europepmc.org/articles/PMC4757286/
https://europepmc.org/articles/PMC4757286/
Autor:
Laurent Brunereau, Jacqueline Maciazek, Minh Arnoult, Michaelle Cecillon, Florence Cavé-Riant, Christian Denier, Anne Joutel, Elisabeth Tournier-Lasserve, Pierre Labauge, Florence Marchelli
Publikováno v:
Annals of Neurology. 55:213-220
Cerebral Cavernous Malformations (CCM/OMIM 604214) are vascular malformations causing seizures and cerebral hemorrhages. They occur as a sporadic and autosomal dominant condition, the latter being characterized by the presence of multiple CCM lesions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6fb004bfed6d300cb81534b59a229f90
https://doi.org/10.1002/ana.10804
https://doi.org/10.1002/ana.10804
Autor:
Michaelle Cecillon, Anne Joutel, Sophie Laberge-le Couteulx, Pierre Labauge, Christian Denier, Florence Cavé-Riant, Jacqueline Maciazek, Elisabeth Tournier-Lasserve
Publikováno v:
European Journal of Human Genetics. 10:733-740
Cerebral Cavernous Malformations (CCM/MIM 604214) are vascular malformations characterised by abnormally enlarged capillary cavities without intervening brain parenchyma. Clinical manifestations include seizures, cerebral haemorrhages and focal neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7abf74a1633d472f46f69a300bd842ee
https://doi.org/10.1038/sj.ejhg.5200870
https://doi.org/10.1038/sj.ejhg.5200870
Autor:
David D. Dodick, Michaelle Cecillon, Elisabeth Tournier-Lasserve, M.G. Bousser, Anne Joutel, Joseph E. Parisi
Publikováno v:
Annals of Neurology. 47:388-391
CADASIL, an autosomal dominant arteriopathy responsible for stroke and dementia, is caused by strongly stereotyped mutations in the Notch3 gene. We report a patient with a condition strongly suggestive of CADASIL (migraine, stroke, and white matter a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fe9d5b30d543f8a86dc3e792cfef5ec
https://doi.org/10.1002/1531-8249(200003)47:3<388::aid-ana19>3.0.co
https://doi.org/10.1002/1531-8249(200003)47:3<388::aid-ana19>3.0.co
Autor:
Nicole Battail, Swann Gaulis, F. Andreux, Michaelle Cecillon, Catherine Godfrain, Nadia Piga, Anne Joutel, Valérie Domenga, Elisabeth Tournier-Lasserve, Françoise Chapon
Publikováno v:
Journal of Clinical Investigation. 105:597-605
Mutations in Notch3 cause CADASIL (cerebral autosomal dominant adult onset arteriopathy), which leads to stroke and dementia in humans. CADASIL arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41317cc60839538262011be651433287
https://doi.org/10.1172/jci8047
https://doi.org/10.1172/jci8047
Autor:
Jean-Louis Escary, Jacqueline Maciazek, Anne Joutel, Michaelle Cecillon, Mark Lathrop, Elisabeth Tournier-Lasserve
Publikováno v:
Human Mutation. 16:518-526
An error was made in the reproduction of Figure 2. Therefore, the corrected version is being reprinted here.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c402028494ec24ca91a6da4ef9fe71a7
https://doi.org/10.1002/1098-1004(200012)16:6<518::aid-humu9>3.0.co
https://doi.org/10.1002/1098-1004(200012)16:6<518::aid-humu9>3.0.co
Publikováno v:
Neurogenetics. 14(2)
Loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 gene are identified in about 95 % of familial cases of cerebral cavernous malformations and 2/3 of sporadic cases with multiple lesions. In this study, 279 consecutive index pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dd1a65d9bb697587ac35b38a5e12a5e
https://pubmed.ncbi.nlm.nih.gov/23595507
https://pubmed.ncbi.nlm.nih.gov/23595507
Autor:
Pascal Favrole, Anne Ducros, F. Andreux, Anne Joutel, Michaelle Cecillon, Marie-Germaine Bousser, Christelle Lescoat, Katayoun Vahedi, Elisabeth Tournier-Lasserve, Pierre Labauge, Valérie Domenga, Hugues Chabriat, Florence Cavé-Riant
Publikováno v:
ResearcherID
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) is a small-artery disease of the brain caused by NOTCH3 mutations that lead to an abnormal accumulation of NOTCH3 within the vasculature. We aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce15eb867361c300f7eea4155705a009
https://doi.org/10.1016/s0140-6736(01)07142-2
https://doi.org/10.1016/s0140-6736(01)07142-2
Autor:
Christian, Denier, Pierre, Labauge, Laurent, Brunereau, Florence, Cavé-Riant, Florence, Marchelli, Minh, Arnoult, Michaelle, Cecillon, Jacqueline, Maciazek, Anne, Joutel, Elisabeth, Tournier-Lasserve
Publikováno v:
Annals of neurology. 55(2)
Cerebral Cavernous Malformations (CCM/OMIM 604214) are vascular malformations causing seizures and cerebral hemorrhages. They occur as a sporadic and autosomal dominant condition, the latter being characterized by the presence of multiple CCM lesions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2bd34543490a90b70ac40ed640c7317c
https://pubmed.ncbi.nlm.nih.gov/14755725
https://pubmed.ncbi.nlm.nih.gov/14755725