Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family
Vinciguerra, C, Di Fonzo, A, Monfrini, E, Ronchi, D, Cuoco, S, Piscosquito, G, Barone, P, Pellecchia, M T
Published in Frontiers in genetics (20.07.2023)
Published in Frontiers in genetics (20.07.2023)
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Journal Article
Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts
Lassalle, F., Marmontel, O., Zawadzki, C., Fretigny, M., Bouvagnet, P., Vinciguerra, C.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2018)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2018)
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Journal Article
Characterization of five associations of F8 missense mutations containing FVIII B domain mutations
Jourdy, Y., Nougier, C., Roualdes, O., Fretigny, M., Durand, B., Negrier, C., Vinciguerra, C.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2016)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2016)
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Journal Article
Peak width of skeletonized mean diffusivity (PSMD) and cognitive functions in relapsing-remitting multiple sclerosis
Vinciguerra, C., Giorgio, A., Zhang, J., Nardone, V., Brocci, R. Tappa, Pastò, L., Niccolai, C., Stromillo, M.L., Mortilla, M., Amato, M.P., De Stefano, N.
Published in Brain imaging and behavior (01.08.2021)
Published in Brain imaging and behavior (01.08.2021)
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Journal Article
Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability
Jourdy, Y., Chatron, N., Carage, M.‐L., Fretigny, M., Meunier, S., Zawadzki, C., Gay, V., Negrier, C., Sanlaville, D., Vinciguerra, C.
Published in Journal of thrombosis and haemostasis (01.10.2016)
Published in Journal of thrombosis and haemostasis (01.10.2016)
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Journal Article
Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling
Jourdy, Y., Chatron, N., Fretigny, M., Carage, M. L., Chambost, H., Claeyssens‐Donadel, S., Roussel‐Robert, V., Negrier, C., Sanlaville, D., Vinciguerra, C.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2017)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2017)
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Journal Article
Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
Roualdes, O., Nougier, C., Fretigny, M., Talagrand, E., Durand, B., Negrier, C., Vinciguerra, C.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2015)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2015)
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Journal Article
Eye movement abnormalities in a patient with Zellweger spectrum disorder
Rosini, F., Vinciguerra, C., Mignarri, A., Di Giovanni, M., Federico, A., Rufa, A.
Published in Neurological sciences (01.06.2016)
Published in Neurological sciences (01.06.2016)
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Journal Article
Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis
Vinciguerra, C., Giorgio, A., Zhang, J., Di Donato, I., Stromillo, M.L., Tappa Brocci, R., Federico, A., Dotti, M.T., De Stefano, N.
Published in Multiple sclerosis and related disorders (01.01.2019)
Published in Multiple sclerosis and related disorders (01.01.2019)
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Journal Article
Hydroxychloroquine neuromyotoxicity: a case with rapid course and complete recovery
Vinciguerra, C., Sicurelli, F., Fioravanti, A., Malandrini, A., Battisti, C., Federico, A.
Published in Neurological sciences (01.12.2015)
Published in Neurological sciences (01.12.2015)
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Journal Article
Characterization of four novel molecular changes in the promoter region of the factor VIII gene
Nougier, C., Roualdes, O., Fretigny, M., d'Oiron, R., Costa, C., Negrier, C., Vinciguerra, C.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2014)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2014)
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Journal Article
Four cases of hypofibrinogenemia associated with four novel mutations
Hanss, M, Ffrench, P, Vinciguerra, C, Bertrand, M-A, Mazancourt, P
Published in Journal of thrombosis and haemostasis (01.10.2005)
Published in Journal of thrombosis and haemostasis (01.10.2005)
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Journal Article
349 RELATION BETWEEN NON-INVASIVE LIVER FIBROSIS TESTS AND CIRRHOSIS COMPLICATIONS
Roquin, G, Bertrais, S, Boursier, J, Pascaud, A, Common, H, Givel, C, Casant, S, Blanchi, A, Domecq, M, Brethomeau, J, L'Hirondel, N, de Geyer, A, Vinciguerra, C, Fouchard-Hubert, I, Oberti, F, Calès, P
Published in Journal of hepatology (01.03.2011)
Published in Journal of hepatology (01.03.2011)
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Journal Article
Contribution of genetical analysis for diagnosis of von Willebrand's disease type 2B
VICTOR, M., RUGERI, L., NOUGIER, C., MEUNIER, S., FRETIGNY, M., NEGRIER, C., VINCIGUERRA, C.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2009)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2009)
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Journal Article
Synthesis of GPIbβ with novel transmembrane and cytoplasmic sequences in a Bernard–Soulier patient resulting in GPIb‐defective signaling in CHO cells
STRASSEL, C., DAVID, T., ECKLY, A., BAAS, M‐J, MOOG, S., RAVANAT, C., TRZECIAK, M‐C, VINCIGUERRA, C., CAZENAVE, J‐P, GACHET, C., LANZA, F.
Published in Journal of thrombosis and haemostasis (01.01.2006)
Published in Journal of thrombosis and haemostasis (01.01.2006)
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Journal Article
Two novel mutations in EGF‐like domains of human factor IX dramatically impair intracellular processing and secretion
Enjolras, N., Plantier, J‐L., Rodriguez, M‐H., Rea, M., Attali, O., Vinciguerra, C., Negrier, C.
Published in Journal of thrombosis and haemostasis (01.07.2004)
Published in Journal of thrombosis and haemostasis (01.07.2004)
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Journal Article