Search Results - "Mine, Manuele"

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review by Sellal, François, Wallon, David, Martinez-Almoyna, Laurent, Marelli, Cecilia, Dhar, Abhinav, Oesterlé, Héléne, Rovelet-Lecrux, Anne, Rousseau, Stéphane, Kourkoulis, Christina E, Rosand, Jon, DiPucchio, Zora Y, Frosch, Matthew, Gombert, Claudine, Audoin, Bertrand, Miné, Manuèle, Riant, Florence, Frebourg, Thierry, Hannequin, Didier, Campion, Dominique, Greenberg, Steven M, Tournier-Lasserve, Elisabeth, Nicolas, Gaël

“…Specific APP mutations cause cerebral amyloid angiopathy (CAA) with or without Alzheimer's disease (AD). We aimed at reporting APP mutations associated with…”
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Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications by Renard, Dimitri, Miné, Manuele, Pipiras, Eva, Labauge, Pierre, Delahaye, Andrée, Benzacken, Brigitte, Tournier-Lasserve, Elisabeth

“…A nonsmoking woman, aged 44 years, presented with transient right-sided hemiparesis. CT showed leukoencephalopathy without infarction (figure). Blood pressure…”
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Further refinement of COL4A1 and COL4A2 related cortical malformations by Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, Bahi-Buisson, Nadia

“…Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal…”
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Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication by Grangeon, Lou, Cassinari, Kévin, Rousseau, Stéphane, Croisile, Bernard, Formaglio, Maïté, Moreaud, Olivier, Boutonnat, Jean, Le Meur, Nathalie, Miné, Manuele, Coste, Thibault, Pipiras, Eva, Tournier-Lasserve, Elisabeth, Rovelet-Lecrux, Anne, Campion, Dominique, Wallon, David, Nicolas, Gael

“…To report a triplication of the amyloid-β precursor protein ( ) locus along with relative messenger RNA (mRNA) expression in a family with autosomal dominant…”
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Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity by Giocanti-Auregan, Audrey, Gaudric, Alain, Buffon, Frédérique, Mine, Manuele, Delahaye-Mazza, Corinne, Cohen, Salomon Y, Erginay, Ali, Chabriat, Hugues, Lasserve, Elisabeth Tournier, Krivosic, Valérie

“…To analyze the location of familial retinal arterial tortuosity (fRAT) in the three-dimensional structure of retinal capillaries. Retrospective observational…”
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The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis by Gabut, Mathieu, Miné, Manuèle, Marsac, Cécile, Brivet, Michèle, Tazi, Jamal, Soret, Johann

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Late diagnosis of COL4A1 mutation and problematic vascular risk factor management by Magnin, Eloi, Ayrignac, Xavier, Berger, Eric, Mine, Manuele, Tournier-Lasserve, Elisabeth, Labauge, Pierre

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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element by Miné, Manuèle, Chen, Jian-Min, Brivet, Michèle, Desguerre, Isabelle, Marchant, Dominique, de Lonlay, Pascale, Bernard, Aral, Férec, Claude, Abitbol, Marc, Ricquier, Daniel, Marsac, Cécile

“…The long interspersed element‐1 (LINE‐1 or L1) retrotransposition has altered the human genome in many ways. In particular, recent in vitro studies have…”
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Leigh's disease due to a new mutation in the PDHX gene by Schiff, Manuel, Miné, Manuele, Brivet, Michèle, Marsac, Cécile, Elmaleh-Bergés, Monique, Evrard, Philippe, Ogier De Baulny, Hélène

“…Objective To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase…”
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Proteomic Consequences of a Human Mitochondrial tRNA Mutation beyond the Frame of Mitochondrial Translation by Tryoen-Tóth, Petra, Richert, Sophie, Sohm, Bénédicte, Mine, Manuele, Marsac, Cécile, Van Dorsselaer, Alain, Leize, Emmanuelle, Florentz, Catherine

“…Numerous severe neurodegenerative and neuromuscular disorders, characterized biochemically by strong perturbations in energy metabolism, are correlated with…”
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A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency by Miné, Manuèle, Brivet, Michèle, Schiff, Manuel, de Baulny, Hélène Ogier, Chuzhanova, Nadia, Marsac, Cécile

“…We report here the molecular analysis of a pyruvate dehydrogenase E3-binding protein (PDH-E3BP) deficiency in a new patient, born to first cousin parents. She…”
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A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene by Dey, Runu, Mine, Manuele, Desguerre, Isabelle, Slama, Abdelhamid, Van Den Berghe, Loic, Brivet, Michèle, Aral, Bernard, Marsac, Cécile

“…We report a case of neonatal congenital lactic acidosis associated with pyruvate dehydrogenase E3‐binding protein deficiency in a newborn girl. She had a…”
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Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain by Fouillade, Charles, Chabriat, Hugues, Riant, Florence, Mine, Manuèle, Arnoud, Minh, Magy, Laurent, Bousser, Marie Germaine, Tournier-Lasserve, Elisabeth, Joutel, Anne

“…The most common causative diagnosis of hereditary small‐vessel‐disease of the brain, CADASIL, is due to highly stereotyped mutations in the NOTCH3 receptor…”
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A cortical form of CADASIL with cerebral Aβ amyloidosis by Paquet, Claire, Jouvent, Eric, Mine, Manuèle, Vital, Anne, Hugon, Jacques, Chabriat, Hugues, Gray, Françoise

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was diagnosed by genetic testing in a 53-year-old patient,…”
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COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy by Gunda, Bence, Mine, Manuele, Kovács, Tibor, Hornyák, Csilla, Bereczki, Dániel, Várallyay, György, Rudas, Gábor, Audrezet, Marie-Pierre, Tournier-Lasserve, Elisabeth

“…Type IV collagen α1 and α2 chains form heterotrimers that constitute an essential component of basement membranes. Mutations in COL4A1 , encoding the α1 chain,…”
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COL4A1 mutation revealed by an isolated brain hemorrhage by Corlobe, Astrid, Tournier-Lasserve, Elisabeth, Mine, Manuele, Menjot de Champfleur, Nicolas, Carra Dalliere, Clarisse, Ayrignac, Xavier, Labauge, Pierre, Arquizan, Caroline

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A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13 by HERVE, Dominique, CHABRIAT, Hugues, DELAFORGE, Audrey, BOUSSER, Marie-Germaine, GUICHARD, Jean-Pierre, MARTIN, Jean-Jacques, GRAY, Françoise, TOURNIER-LASSERVE, Elisabeth, RIGAL, Mélanie, DALLOZ, Marie-Amelie, KAWKABANI MARCHINI, Aida, DE LEPELEIRE, Jean, FONTAINE, Bertrand, CEUTERICK-DE GROOTE, Chantal, ALILI, Nassira, MINE, Manuele

“…The detection of a leukoencephalopathy is a frequent situation in neurologic practice. In a number of cases, the etiology remains obscure despite extensive…”
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Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients by Mine, Manuele, Tournier-Lasserve, Elisabeth

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COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers by Tonduti, Davide, Pichiecchio, Anna, La Piana, Roberta, Livingston, John H, Doherty, Daniel A, Majumdar, Anirban, Tomkins, Susan, Mine, Manuele, Ceroni, Mauro, Ricca, Ivana, Balottin, Umberto, Orcesi, Simona

“…Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features…”
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Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism by Karges, Beate, Karges, Wolfram, Mine, Manuele, Ludwig, Leopold, Kühne, Ronald, Milgrom, Edwin, de Roux, Nicolas

“…Mutations of the GnRH receptor have been recognized as a cause of familial gonadotropin deficiency. We here identify and functionally characterize a novel…”
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