Search

Your search keyword '"Goizet, Cyril"' showing total 766 results
Start Over Author "Goizet, Cyril"
766 results on '"Goizet, Cyril"'

201. LRSAM1variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

Author

Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, and Stojkovic, Tanya

Abstract

Currently only 25–30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. We aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. We collected clinical, electrophysiological, and laboratory findings and performed genetic analyses in four different French laboratories. Seventy-two patients with autosomal dominant inheritance were identified. The disease usually started in the fourth decade and the clinical picture was dominated by sensory ataxia (80%), neuropathic pain (38%), and length-dependent sensory loss to all modalities. Electrophysiological studies showed a primarily axonal neuropathy, with possible isolated sensory involvement in milder phenotypes. Disease severity varied greatly but the clinical course was generally mild. We identified 2 novel variants in LRSAM1gene: a deletion of 4 amino acids, p.(Gln698_Gln701del), was found in 7 families and a duplication of a neighboring region of 10 amino acids, p.(Pro702_Gln711dup), in the remaining family. A common haplotype of ~450 kb suggesting a founder effect was noted around LRSAM1in 4 families carrying the first variant. LRSAM1 geneencodes for an E3 ubiquitin ligase important for neural functioning. Our results confirm the localization of variants in its catalytic C-terminal RING domain and broaden the phenotypic spectrum of LRSAM1-related neuropathies, including painful and predominantly sensory ataxic forms.

Published
2019
Full Text
View/download PDF

202. Disrupted filamin A/αIIbβ3interaction induces macrothrombocytopenia by increasing RhoA activity

Author

Donada, Alessandro, Balayn, Nathalie, Sliwa, Dominika, Lordier, Larissa, Ceglia, Valentina, Baschieri, Francesco, Goizet, Cyril, Favier, Rémi, Tosca, Lucie, Tachdjian, Gérard, Denis, Cecile V., Plo, Isabelle, Vainchenker, William, Debili, Najet, Rosa, Jean-Philippe, Bryckaert, Marijke, and Raslova, Hana

Abstract

Filamin A (FLNa) links the cell membrane with the cytoskeleton and is central in several cellular processes. Heterozygous mutations in the X-linked FLNAgene are associated with a large spectrum of conditions, including macrothrombocytopenia, called filaminopathies. Using an isogenic pluripotent stem cell model derived from patients, we show that the absence of the FLNa protein in megakaryocytes (MKs) leads to their incomplete maturation, particularly the inability to produce proplatelets. Reduction in proplatelet formation potential is associated with a defect in actomyosin contractility, which results from inappropriate RhoA activation. This dysregulated RhoA activation was observed when MKs were plated on fibrinogen but not on other matrices (fibronectin, vitronectin, collagen 1, and von Willebrand factor), strongly suggesting a role for FLNa/αIIbβ3interaction in the downregulation of RhoA activity. This was confirmed by experiments based on the overexpression of FLNa mutants deleted in the αIIbβ3-binding domain and the RhoA-interacting domain, respectively. Finally, pharmacological inhibition of the RhoA-associated kinase ROCK1/2 restored a normal phenotype and proplatelet formation. Overall, this work suggests a new etiology for macrothrombocytopenia, in which increased RhoA activity is associated with disrupted FLNa/αIIbβ3interaction.

Published
2019
Full Text
View/download PDF

207. Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Author

Al-Sannaa, Nouriya A., primary, Bay, Luisa, additional, Barbouth, Deborah S., additional, Benhayoun, Youssef, additional, Goizet, Cyril, additional, Guelbert, Norberto, additional, Jones, Simon A., additional, Kyosen, Sandra Obikawa, additional, Martins, Ana Maria, additional, Phornphutkul, Chanika, additional, Reig, Celia, additional, Pleat, Rebecca, additional, Fallet, Shari, additional, and Ivanovska Holder, Iva, additional

Published
2015
Full Text
View/download PDF

208. Delayed-onset Friedreich's ataxia revisited

Author

Lecocq, Claire, primary, Charles, Perrine, additional, Azulay, Jean‐Philippe, additional, Meissner, Wassilios, additional, Rai, Myriam, additional, N'Guyen, Karine, additional, Péréon, Yann, additional, Fabre, Nelly, additional, Robin, Elsa, additional, Courtois, Sylvie, additional, Guyant‐Maréchal, Lucie, additional, Zagnoli, Fabien, additional, Rudolf, Gabrielle, additional, Renaud, Mathilde, additional, Sévin‐Allouet, Mathieu, additional, Lesne, Fabien, additional, Alaerts, Nick, additional, Goizet, Cyril, additional, Calvas, Patrick, additional, Eusebio, Alexandre, additional, Guissart, Claire, additional, Derkinderen, Pascal, additional, Tison, Francois, additional, Brice, Alexis, additional, Koenig, Michel, additional, Pandolfo, Massimo, additional, Tranchant, Christine, additional, Dürr, Alexandra, additional, and Anheim, Mathieu, additional

Published
2015
Full Text
View/download PDF

209. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Author

Thiffault, Isabelle, primary, Wolf, Nicole I., additional, Forget, Diane, additional, Guerrero, Kether, additional, Tran, Luan T., additional, Choquet, Karine, additional, Lavallée-Adam, Mathieu, additional, Poitras, Christian, additional, Brais, Bernard, additional, Yoon, Grace, additional, Sztriha, Laszlo, additional, Webster, Richard I., additional, Timmann, Dagmar, additional, van de Warrenburg, Bart P., additional, Seeger, Jürgen, additional, Zimmermann, Alíz, additional, Máté, Adrienn, additional, Goizet, Cyril, additional, Fung, Eva, additional, van der Knaap, Marjo S., additional, Fribourg, Sébastien, additional, Vanderver, Adeline, additional, Simons, Cas, additional, Taft, Ryan J., additional, Yates III, John R., additional, Coulombe, Benoit, additional, and Bernard, Geneviève, additional

Published
2015
Full Text
View/download PDF

211. Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: Analysis of eight sibling pairs

Author

Pleat, Rebecca, primary, Al-Sannaa, Nouriya, additional, Barbouth, Deborah S., additional, Benhayoun, Youssef, additional, Goizet, Cyril, additional, Guelbert, Norberto, additional, Jones, Simon A., additional, Kyosen, Sandra, additional, Martins, Ana Maria, additional, Phornphutkul, Chanika, additional, Reig, Celia, additional, Holder, Iva Ivanovska, additional, and Fallet, Shari, additional

Published
2015
Full Text
View/download PDF

212. Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

Author

Crow, Yanick J., primary, Chase, Diana S., additional, Lowenstein Schmidt, Johanna, additional, Szynkiewicz, Marcin, additional, Forte, Gabriella M.A., additional, Gornall, Hannah L., additional, Oojageer, Anthony, additional, Anderson, Beverley, additional, Pizzino, Amy, additional, Helman, Guy, additional, Abdel-Hamid, Mohamed S., additional, Abdel-Salam, Ghada M., additional, Ackroyd, Sam, additional, Aeby, Alec, additional, Agosta, Guillermo, additional, Albin, Catherine, additional, Allon-Shalev, Stavit, additional, Arellano, Montse, additional, Ariaudo, Giada, additional, Aswani, Vijay, additional, Babul-Hirji, Riyana, additional, Baildam, Eileen M., additional, Bahi-Buisson, Nadia, additional, Bailey, Kathryn M., additional, Barnerias, Christine, additional, Barth, Magalie, additional, Battini, Roberta, additional, Beresford, Michael W., additional, Bernard, Geneviève, additional, Bianchi, Marika, additional, Billette de Villemeur, Thierry, additional, Blair, Edward M., additional, Bloom, Miriam, additional, Burlina, Alberto B., additional, Luisa Carpanelli, Maria, additional, Carvalho, Daniel R., additional, Castro-Gago, Manuel, additional, Cavallini, Anna, additional, Cereda, Cristina, additional, Chandler, Kate E., additional, Chitayat, David A., additional, Collins, Abigail E., additional, Sierra Corcoles, Concepcion, additional, Cordeiro, Nuno J.V., additional, Crichiutti, Giovanni, additional, Dabydeen, Lyvia, additional, Dale, Russell C., additional, D′Arrigo, Stefano, additional, De Goede, Christian G.E.L., additional, De Laet, Corinne, additional, De Waele, Liesbeth M.H., additional, Denzler, Ines, additional, Desguerre, Isabelle, additional, Devriendt, Koenraad, additional, Di Rocco, Maja, additional, Fahey, Michael C., additional, Fazzi, Elisa, additional, Ferrie, Colin D., additional, Figueiredo, António, additional, Gener, Blanca, additional, Goizet, Cyril, additional, Gowrinathan, Nirmala R., additional, Gowrishankar, Kalpana, additional, Hanrahan, Donncha, additional, Isidor, Bertrand, additional, Kara, Bülent, additional, Khan, Nasaim, additional, King, Mary D., additional, Kirk, Edwin P., additional, Kumar, Ram, additional, Lagae, Lieven, additional, Landrieu, Pierre, additional, Lauffer, Heinz, additional, Laugel, Vincent, additional, Piana, Roberta La, additional, Lim, Ming J., additional, Lin, Jean-Pierre S.-M., additional, Linnankivi, Tarja, additional, Mackay, Mark T., additional, Marom, Daphna R., additional, Marques Lourenço, Charles, additional, McKee, Shane A., additional, Moroni, Isabella, additional, Morton, Jenny E.V., additional, Moutard, Marie-Laure, additional, Murray, Kevin, additional, Nabbout, Rima, additional, Nampoothiri, Sheela, additional, Nunez-Enamorado, Noemi, additional, Oades, Patrick J., additional, Olivieri, Ivana, additional, Ostergaard, John R., additional, Pérez-Dueñas, Belén, additional, Prendiville, Julie S., additional, Ramesh, Venkateswaran, additional, Rasmussen, Magnhild, additional, Régal, Luc, additional, Ricci, Federica, additional, Rio, Marlène, additional, Rodriguez, Diana, additional, Roubertie, Agathe, additional, Salvatici, Elisabetta, additional, Segers, Karin A., additional, Sinha, Gyanranjan P., additional, Soler, Doriette, additional, Spiegel, Ronen, additional, Stödberg, Tommy I., additional, Straussberg, Rachel, additional, Swoboda, Kathryn J., additional, Suri, Mohnish, additional, Tacke, Uta, additional, Tan, Tiong Y., additional, te Water Naude, Johann, additional, Wee Teik, Keng, additional, Mary Thomas, Maya, additional, Till, Marianne, additional, Tonduti, Davide, additional, Maria Valente, Enza, additional, Noel Van Coster, Rudy, additional, van der Knaap, Marjo S., additional, Vassallo, Grace, additional, Vijzelaar, Raymon, additional, Vogt, Julie, additional, Wallace, Geoffrey B., additional, Wassmer, Evangeline, additional, Webb, Hannah J., additional, Whitehouse, William P., additional, Whitney, Robyn N., additional, Zaki, Maha S., additional, Zuberi, Sameer M., additional, Livingston, John H., additional, Rozenberg, Flore, additional, Lebon, Pierre, additional, Vanderver, Adeline, additional, Orcesi, Simona, additional, and Rice, Gillian I., additional

Published
2015
Full Text
View/download PDF

213. Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients

Author

Ayrignac, Xavier, primary, Carra-Dalliere, Clarisse, additional, Menjot de Champfleur, Nicolas, additional, Denier, Christian, additional, Aubourg, Patrick, additional, Bellesme, Celine, additional, Castelnovo, Giovanni, additional, Pelletier, Jean, additional, Audoin, Bertrand, additional, Kaphan, Elsa, additional, de Seze, Jerome, additional, Collongues, Nicolas, additional, Blanc, Frederic, additional, Chanson, Jean-Baptiste, additional, Magnin, Eloi, additional, Berger, Eric, additional, Vukusic, Sandra, additional, Durand-Dubief, Francoise, additional, Camdessanche, Jean-Philippe, additional, Cohen, Mickael, additional, Lebrun-Frenay, Christine, additional, Brassat, David, additional, Clanet, Michel, additional, Vermersch, Patrick, additional, Zephir, Helene, additional, Outteryck, Olivier, additional, Wiertlewski, Sandrine, additional, Laplaud, David-Axel, additional, Ouallet, Jean-Christophe, additional, Brochet, Bruno, additional, Goizet, Cyril, additional, Debouverie, Marc, additional, Pittion, Sophie, additional, Edan, Gilles, additional, Deburghgraeve, Véronique, additional, Le Page, Emmanuelle, additional, Verny, Christophe, additional, Amati-Bonneau, Patrizia, additional, Bonneau, Dominique, additional, Hannequin, Didier, additional, Guyant-Maréchal, Lucie, additional, Derache, Nathalie, additional, Louis Defer, Gilles, additional, Moreau, Thibault, additional, Giroud, Maurice, additional, Guennoc, Anne Marie, additional, Clavelou, Pierre, additional, Taithe, Frédérique, additional, Mathis, Stephane, additional, Neau, Jean-Philippe, additional, Magy, Laurent, additional, Devoize, Jean Louis, additional, Bataillard, Marc, additional, Masliah-Planchon, Julien, additional, Dorboz, Imen, additional, Tournier-Lasserve, Elisabeth, additional, Levade, Thierry, additional, Boespflug Tanguy, Odile, additional, and Labauge, Pierre, additional

Published
2014
Full Text
View/download PDF

214. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Author

Coutelier, Marie, Coarelli, Giulia, Monin, Marie-Lorraine, Konop, Juliette, Davoine, Claire-Sophie, Tesson, Christelle, Valter, Rémi, Anheim, Mathieu, Behin, Anthony, Castelnovo, Giovanni, Charles, Perrine, David, Albert, Ewenczyk, Claire, Fradin, Mélanie, Goizet, Cyril, Hannequin, Didier, Labauge, Pierre, Riant, Florence, Sarda, Pierre, and Sznajer, Yves

Subjects
CEREBELLAR ataxia, GENOTYPES, POLYGLUTAMINE, MOVEMENT disorders, DISEASE duration, PROGNOSIS, AGE factors in disease, CALCIUM, DEGENERATION (Pathology), GENES, LONGITUDINAL method, PROTEOLYTIC enzymes, PHENOTYPES
Abstract

Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge in the field. While polyglutamine ataxias, linked to CAG repeat expansions in genes such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP, have been extensively characterized in large cohorts, there is a need for comprehensive assessment of frequency and phenotype of more 'conventional' ataxias. After exclusion of CAG/polyglutamine expansions in spinocerebellar ataxia genes in 412 index cases with dominantly inherited cerebellar ataxias, we aimed to establish the relative frequencies of mutations in other genes, with an approach combining panel sequencing and TaqMan® polymerase chain reaction assay. We found relevant genetic variants in 59 patients (14.3%). The most frequently mutated were channel genes [CACNA1A (n = 16), KCND3 (n = 4), KCNC3 (n = 2) and KCNA1 (n = 2)]. Deletions in ITPR1 (n = 11) were followed by biallelic variants in SPG7 (n = 9). Variants in AFG3L2 (n = 7) came next in frequency, and variants were rarely found in STBN2 (n = 2), ELOVL5, FGF14, STUB1 and TTBK2 (n = 1 each). Interestingly, possible risk factor variants were detected in SPG7 and POLG. Clinical comparisons showed that ataxias due to channelopathies had a significantly earlier age at onset with an average of 24.6 years, versus 40.9 years for polyglutamine expansion spinocerebellar ataxias and 37.8 years for SPG7-related forms (P = 0.001). In contrast, disease duration was significantly longer in the former (20.5 years versus 9.3 and 13.7, P=0.001), though for similar functional stages, indicating slower progression of the disease. Of interest, intellectual deficiency was more frequent in channel spinocerebellar ataxias, while cognitive impairment in adulthood was similar among the three groups. Similar differences were found among a single gene group, comparing 23 patients with CACNA1A expansions (spinocerebellar ataxia 6) to 22 patients with CACNA1A point mutations, which had lower average age at onset (25.2 versus 47.3 years) with longer disease duration (18.7 versus 10.9), but lower severity indexes (0.39 versus 0.44), indicating slower progression of the disease. In conclusion, we identified relevant genetic variations in up to 15% of cases after exclusion of polyglutamine expansion spinocerebellar ataxias, and confirmed CACNA1A and SPG7 as major ataxia genes. We could delineate firm genotype-phenotype correlations that are important for genetic counselling and of possible prognostic value. [ABSTRACT FROM AUTHOR]

Published
2017
Full Text
View/download PDF

217. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France

Author

Lesca, Gaetan, Plauchu, Henri, Coulet, Florence, Lefebvre, Sylvain, Plessis, Ghislaine, Odent, Sylvie, Rivière, Sophie, Leheup, Bruno, Goizet, Cyril, Carette, Marie-France, Cordier, Jean-François, Pinson, Stéphane, Soubrier, Florent, Calender, Alain, Giraud, Sophie, Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Bordeaux [Bordeaux], Rétrovirus et Pathologie Comparée (RPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Ecole Nationale Vétérinaire de Lyon (ENVL)

Subjects
ENG, HHT2, HHT1, [SDV]Life Sciences [q-bio], ACVRL1, HEMORRHAGIC HEREDITARY TELANGIECTASIA, ALK1, MUTATION SCREENING, FOUNDER EFFECT, OSLER-RENDU-WEBER SYNDROME
Abstract

International audience; Hereditary hemmorrhagic telangiectasia (HHT, or Osler-Rendu-Weber syndrome) is an autosomal dominant disease characterized by arteriovenous malformations, affecting 1 out of 10,000 individuals in France. The disease is caused by mutations of two genes: ENG and ALK1 (ACVRL1). We screened the coding sequence of ENG and ALK1 in 160 unrelated French index cases. A germline mutation was identified in 100 individuals (62.5%). A total of 36 mutations were found in ENG, including three nonsense mutations, 19 small insertions/deletions leading to a frameshift, two inframe deletions, seven missense mutations, and five intronic or splice-site mutations. Of the 36 mutations, 33 were novel mutations. A total of 64 mutations were found in ALK1, including six nonsense mutations, 28 small insertions/deletions leading to a frameshift, one inframe deletion, 27 missense mutations, and two intronic or splice-site mutations. Of the 64 mutations, 27 were novel mutations. Mutations were found in most parts of the coding sequence for both genes, except ALK1 exon 5 and ENG exons 12 to 14. Missense mutations in ALK1 were more frequent in exons 7, 8, and 10. ENG cDNA was sequenced for three intronic mutations: c.689+2T>C produced an abnormal transcript excluding exon 5, c.1103+3-1103+8del activated a cryptic splice site 22 bp upstream, and c. 1428G>A produced two abnormal transcripts, one including intron 11 and the other excluding exon 10. Although most of the mutations were private, some recurrent mutations in ALK1 were of particular interest. Mutation c.1112-1113dupG (p.Gly371fsX391) was found in 17 unrelated individuals sharing a common haplotype, strongly suggesting a founder effect related to the concentration of patients previously reported in a specific French region (Rhone-Alpes). Three missense mutations involved the same codon: c.1231C>T (p.Arg411Trp), c.1232G>C (p.Arg411Pro), and c.1232G>A (p.Arg411Gln) were found in seven, two, and one patients, respectively. Haplotype analysis was in favor of both a founder effect and a mutation hot-spot.

Published
2004

218. Effectiveness of Anti-Psychotics and Related Drugs in the Huntington French-Speaking Group Cohort

Author

Désaméricq, Gaëlle, primary, Dolbeau, Guillaume, additional, Verny, Christophe, additional, Charles, Perrine, additional, Durr, Alexandra, additional, Youssov, Katia, additional, Simonin, Clémence, additional, Azulay, Jean-Philippe, additional, Tranchant, Christine, additional, Goizet, Cyril, additional, Damier, Philippe, additional, Broussolle, Emmanuel, additional, Demonet, Jean-François, additional, Morgado, Graca, additional, de Langavant, Laurent Cleret, additional, Macquin-Mavier, Isabelle, additional, Bachoud-Lévi, Anne-Catherine, additional, and Maison, Patrick, additional

Published
2014
Full Text
View/download PDF

219. Primary brain calcification: an international study reporting novel variants and associated phenotypes

Author

Ramos, Eliana, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee, Hsu, Sandy, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent, Innes, A, Ross, Alison, Dobyns, William, Alcantara, Diana, O’Driscoll, Mark, Hannequin, Didier, Campion, Dominique, Oliveira, João, Garavaglia, Barbara, Coppola, Giovanni, and Nicolas, Gaël

Abstract

Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1. Our study aimed at screening the coding regions of these genes in a series of 177 unrelated probands that fulfilled the diagnostic criteria for primary brain calcification regardless of their family history. Sequence variants were classified as pathogenic, likely pathogenic, or of uncertain significance (VUS), based on the ACMG-AMP recommendations. We identified 45 probands (25.4%) carrying either pathogenic or likely pathogenic variants (n= 34, 19.2%) or VUS (n= 11, 6.2%). SLC20A2provided the highest contribution (16.9%), followed by XPR1and PDGFB(3.4% each), and PDGFRB(1.7%). A total of 81.5% of carriers were symptomatic and the most recurrent symptoms were parkinsonism, cognitive impairment, and psychiatric disturbances (52.3%, 40.9%, and 38.6% of symptomatic individuals, respectively), with a wide range of age at onset (from childhood to 81 years). While the pathogenic and likely pathogenic variants identified in this study can be used for genetic counseling, the VUS will require additional evidence, such as recurrence in unrelated patients, in order to be classified as pathogenic.

Published
2018
Full Text
View/download PDF

220. Further delineation of the MECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Author

Miguet, Marguerite, Faivre, Laurence, Amiel, Jeanne, Nizon, Mathilde, Touraine, Renaud, Prieur, Fabienne, Pasquier, Laurent, Lefebvre, Mathilde, Thevenon, Julien, Dubourg, Christèle, Julia, Sophie, Sarret, Catherine, Remerand, Ganaelle, Francannet, Christine, Laffargue, Fanny, Boespflug-Tanguy, Odile, David, Albert, Isidor, Bertrand, Vigneron, Jacqueline, Leheup, Bruno, Lambert, Laetitia, Philippe, Christophe, Bèèéri-Dexheimer, Mylèène, Cuisset, Jean-Marie, Andrieux, Joris, Plessis, Ghislaine, Toutain, Annick, Guibaud, Laurent, Cormier-Daire, Valèèéérie, Rio, Marlene, Bonnefont, Jean-Paul, Echenne, Bernard, Journel, Hubert, Burglen, Lydie, Chantot-Bastaraud, Sandrine, Bienvenu, Thierry, Baumann, Clarisse, Perrin, Laurence, Drunat, Sèèéééverine, Jouk, Pierre-Simon, Dieterich, Klaus, Devillard, Francoise, Lacombe, Didier, Philip, Nicole, Sigaudy, Sabine, Moncla, Anne, Missirian, Chantal, Badens, Catherine, Perreton, Nathalie, Thauvin-Robinet, Christel, AChro-Puce, Rèèééééseau, Pedespan, Jean-Michel, Rooryck, Caroline, Goizet, Cyril, Vincent-Delorme, Catherine, Duban-Bedu, Bèèééééénèèéééééédicte, Bahi-Buisson, Nadia, Afenjar, Alexandra, Maincent, Kim, Hèèéééééééron, Delphine, Alessandri, Jean-Luc, Martin-Coignard, Dominique, Lesca, Gaetan, Rossi, Massimiliano, Raynaud, Martine, Callier, Patrick, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Coutton, Charles, Satre, Vèèééééééééronique, Caignec, Cèèééééééééédric Le, Malan, Valèèéééééééééérie, Romana, Serge, Keren, Boris, Tabet, Anne-Claude, Kremer, Valèèééééééééééérie, Scheidecker, Sophie, Vigouroux, Adeline, Lackmy-Port-Lis, Marilyn, Sanlaville, Damien, Till, Marianne, Carneiro, Maryline, Gilbert-Dussardier, Brigitte, Willems, Marjolaine, Van Esch, Hilde, Portes, Vincent Des, and El Chehadeh, Salima

Abstract

The Xq28 duplication involving the MECP2gene (MECP2duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life.

Published
2018
Full Text
View/download PDF

222. Association between caffeine intake and age at onset in Huntington's disease

Author

Simonin, Clémence, primary, Duru, Cécile, additional, Salleron, Julia, additional, Hincker, Pascale, additional, Charles, Perrine, additional, Delval, Arnaud, additional, Youssov, Katia, additional, Burnouf, Sylvie, additional, Azulay, Jean-Philippe, additional, Verny, Christophe, additional, Scherer, Clarisse, additional, Tranchant, Christine, additional, Goizet, Cyril, additional, Debruxelles, Sabrina, additional, Defebvre, Luc, additional, Sablonnière, Bernard, additional, Romon-Rousseaux, Monique, additional, Buée, Luc, additional, Destée, Alain, additional, Godefroy, Olivier, additional, Dürr, Alexandra, additional, Landwehrmeyer, Bernhard, additional, Bachoud-Levi, Anne-Catherine, additional, Richard, Florence, additional, Blum, David, additional, and Krystkowiak, Pierre, additional

Published
2013
Full Text
View/download PDF

223. Adaptative Capacity of Mitochondrial Biogenesis and of Mitochondrial Dynamics in Response to Pathogenic Respiratory Chain Dysfunction

Author

Benard, Giovanni, primary, Trian, Thomas, additional, Bellance, Nadège, additional, Berger, Patrick, additional, Lavie, Julie, additional, Espil-Taris, Caroline, additional, Rocher, Christophe, additional, Eimer-Bouillot, Sandrine, additional, Goizet, Cyril, additional, Nouette-Gaulain, Karine, additional, Letellier, Thierry, additional, Lacombe, Didier, additional, and Rossignol, Rodrigue, additional

Published
2013
Full Text
View/download PDF

226. Cavitary Lesions in a Series of 20 Multiple Sclerosis Patients (P06.129)

Author

Corlobe, Astrid, primary, Renard, Dimitri, additional, Brochet, Bruno, additional, Vukusic, Sandra, additional, Edan, Gilles, additional, Deburghgraeve, Veronique, additional, Goizet, Cyril, additional, Dupuy, Diane, additional, Touzet, Emmanuel, additional, Deschamps, Romain, additional, Zephy, Helene, additional, Creange, Alain, additional, Castelnovo, Giovanni, additional, Boesplfug Tanguy, Odile, additional, and Labauge, Pierre, additional

Published
2013
Full Text
View/download PDF

227. Diagnosis of Adult Onset Leukodystrophy in a Consecutive Study of 156 Patients (S60.006)

Author

Labauge, Pierre, primary, Carra-Dalliere, Clarisse, additional, Ayrignac, Xavier, additional, Menjot de Champfleur, Nicolas, additional, Aubourg, Patrick, additional, Bellesme, Céline, additional, Pelletier, Jean, additional, Audoin, Bertrand, additional, De Seze, Jerome, additional, Collongues, Nicolas, additional, Magnin, Eloi, additional, Rumbach, Lucien, additional, Confavreux, Christian, additional, Vukusic, Sandra, additional, Camdessanché, Jean-Philippe, additional, Cohen, Mikael, additional, Lebrun Frenay, Christine, additional, Brassat, David, additional, Clanet, Michel, additional, Vermersch, Patrick, additional, Zéphir, Hélène, additional, Outteryck, Olivier, additional, Wiertlevski, Sandrine, additional, Ouallet, Jean-Christophe, additional, Brochet, Bruno, additional, Goizet, Cyril, additional, Denier, Christian, additional, Debouverie, Marc, additional, Pittion, Sophie, additional, Edan, Gilles, additional, Deburghgraeve, Véronique, additional, Verny, Christophe, additional, Amati-Bonneau, Patrizia, additional, Bonneau, Dominique, additional, Hannequin, Didier, additional, Guyant-Marchal, Lucie, additional, Derache, Nathalie, additional, Moreau, Thibault, additional, Giroud, Maurice, additional, Guennoc, Anne Marie, additional, Clavelou, Pierre, additional, Taithe, Frederic, additional, Mathis, Stephane, additional, Magy, Laurent, additional, Devoize, Jean Louis, additional, Bataillard, Marc, additional, Boespflug Tanguy, Odile, additional, Tournier-Lasserve, Elisabeth, additional, and Levade, Thierry, additional

Published
2013
Full Text
View/download PDF

228. Mutations inPOLR3AandPOLR3Bare a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Author

Daoud, Hussein, primary, Tétreault, Martine, additional, Gibson, William, additional, Guerrero, Kether, additional, Cohen, Ana, additional, Gburek-Augustat, Janina, additional, Synofzik, Matthis, additional, Brais, Bernard, additional, Stevens, Cathy A, additional, Sanchez-Carpintero, Rocio, additional, Goizet, Cyril, additional, Naidu, Sakkubai, additional, Vanderver, Adeline, additional, and Bernard, Geneviève, additional

Published
2013
Full Text
View/download PDF

229. Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations

Author

Berrou, Eliane, primary, Adam, Frédéric, additional, Lebret, Marilyne, additional, Fergelot, Patricia, additional, Kauskot, Alexandre, additional, Coupry, Isabelle, additional, Jandrot-Perrus, Martine, additional, Nurden, Alan, additional, Favier, Rémi, additional, Rosa, Jean-Philippe, additional, Goizet, Cyril, additional, Nurden, Paquita, additional, and Bryckaert, Marijke, additional

Published
2013
Full Text
View/download PDF

231. COMT Val158Met Polymorphism Modulates Huntington's Disease Progression.

Author

de Diego-Balaguer, Ruth, Schramm, Catherine, Rebeix, Isabelle, Dupoux, Emmanuel, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Cleret de Langavant, Laurent, Youssov, Katia, Verny, Christophe, Damotte, Vincent, Azulay, Jean-Philippe, Goizet, Cyril, Simonin, Clémence, Tranchant, Christine, Maison, Patrick, Rialland, Amandine, Schmitz, David, Jacquemot, Charlotte, and Fontaine, Bertrand

Subjects
HUNTINGTON disease, GENETIC polymorphisms, DISEASE progression, DOPAMINE, EXECUTIVE function, COGNITION disorders
Abstract

Little is known about the genetic factors modulating the progression of Huntington’s disease (HD). Dopamine levels are affected in HD and modulate executive functions, the main cognitive disorder of HD. We investigated whether the Val158Met polymorphism of the catechol-O-methyltransferase (COMT) gene, which influences dopamine (DA) degradation, affects clinical progression in HD. We carried out a prospective longitudinal multicenter study from 1994 to 2011, on 438 HD gene carriers at different stages of the disease (34 pre-manifest; 172 stage 1; 130 stage 2; 80 stage 3; 17 stage 4; and 5 stage 5), according to Total Functional Capacity (TFC) score. We used the Unified Huntington’s Disease Rating Scale to evaluate motor, cognitive, behavioral and functional decline. We genotyped participants for COMT polymorphism (107 Met-homozygous, 114 Val-homozygous and 217 heterozygous). 367 controls of similar ancestry were also genotyped. We compared clinical progression, on each domain, between groups of COMT polymorphisms, using latent-class mixed models accounting for disease duration and number of CAG (cytosine adenine guanine) repeats. We show that HD gene carriers with fewer CAG repeats and with the Val allele in COMT polymorphism displayed slower cognitive decline. The rate of cognitive decline was greater for Met/Met homozygotes, which displayed a better maintenance of cognitive capacity in earlier stages of the disease, but had a worse performance than Val allele carriers later on. COMT polymorphism did not significantly impact functional and behavioral performance. Since COMT polymorphism influences progression in HD, it could be used for stratification in future clinical trials. Moreover, DA treatments based on the specific COMT polymorphism and adapted according to disease duration could potentially slow HD progression. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

232. DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

Author

Bettencourt, Conceição, Hensman‐Moss, Davina, Flower, Michael, Wiethoff, Sarah, Brice, Alexis, Goizet, Cyril, Stevanin, Giovanni, Koutsis, Georgios, Karadima, Georgia, Panas, Marios, Yescas‐Gómez, Petra, García‐Velázquez, Lizbeth Esmeralda, Alonso‐Vilatela, María Elisa, Lima, Manuela, Raposo, Mafalda, Traynor, Bryan, Sweeney, Mary, Wood, Nicholas, Giunti, Paola, and Durr, Alexandra

Subjects
AGE factors in disease, COMPARATIVE studies, DNA, ESTERASES, GENETIC polymorphisms, HUNTINGTON disease, RESEARCH methodology, SPINOCEREBELLAR ataxia, MEDICAL cooperation, GENETIC mutation, RESEARCH, RESEARCH funding, EVALUATION research, SEQUENCE analysis
Abstract

Objective: The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary neurodegenerative diseases. They are caused by expanded CAG tracts, encoding glutamine, in different genes. Longer CAG repeat tracts are associated with earlier ages at onset, but this does not account for all of the difference, and the existence of additional genetic modifying factors has been suggested in these diseases. A recent genome-wide association study (GWAS) in HD found association between age at onset and genetic variants in DNA repair pathways, and we therefore tested whether the modifying effects of variants in DNA repair genes have wider effects in the polyglutamine diseases.Methods: We assembled an independent cohort of 1,462 subjects with HD and polyglutamine SCAs, and genotyped single-nucleotide polymorphisms (SNPs) selected from the most significant hits in the HD study.Results: In the analysis of DNA repair genes as a group, we found the most significant association with age at onset when grouping all polyglutamine diseases (HD+SCAs; p = 1.43 × 10(-5) ). In individual SNP analysis, we found significant associations for rs3512 in FAN1 with HD+SCAs (p = 1.52 × 10(-5) ) and all SCAs (p = 2.22 × 10(-4) ) and rs1805323 in PMS2 with HD+SCAs (p = 3.14 × 10(-5) ), all in the same direction as in the HD GWAS.Interpretation: We show that DNA repair genes significantly modify age at onset in HD and SCAs, suggesting a common pathogenic mechanism, which could operate through the observed somatic expansion of repeats that can be modulated by genetic manipulation of DNA repair in disease models. This offers novel therapeutic opportunities in multiple diseases. Ann Neurol 2016;79:983-990. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

233. Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.

Author

Hamon, Yveline, Legowska, Monika, Fergelot, Patricia, Dallet‐Choisy, Sandrine, Newell, Louise, Vanderlynden, Lise, Kord Valeshabad, Ali, Acrich, Karina, Kord, Hadi, Tsamakis, Charalampos, Morice‐Picard, Fanny, Surplice, Ian, Zoidakis, Jerome, David, Karen, Vlahou, Antonia, Ragunatha, Shivanna, Nagy, Nikoletta, Farkas, Katalin, Széll, Márta, and Goizet, Cyril

Subjects
CATHEPSINS, PALMOPLANTAR keratoderma, URINALYSIS, PROTEASE inhibitors, PERIODONTITIS
Abstract

Papillon-Lefèvre syndrome ( PLS) ( OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we tested the hypothesis that active CatC is constitutively excreted and can be easily traced in the urine of normal subjects. If this is true, determining its absence in the urine of patients would be an early, simple, reliable, low-cost and easy diagnostic technique. All 75 urine samples from healthy control subjects (aged 3 months to 80 years) contained proteolytically active CatC and its proform, as revealed by kinetic analysis and immunochemical detection. Of the urine samples of 31 patients with a PLS phenotype, 29 contained neither proteolytically active CatC nor the CatC antigen, so that the PLS diagnosis was confirmed. CatC was detected in the urine of the other two patients, and genetic analysis revealed no loss-of-function mutation in CTSC, indicating that they suffer from a PLS-like condition but not from PLS. Screening for the absence of urinary CatC activity soon after birth and early treatment before the onset of PLS manifestations will help to prevent aggressive periodontitis and loss of many teeth, and should considerably improve the quality of life of PLS patients. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

234. Delayed-onset Friedreich's ataxia revisited.

Author

Lecocq, Claire, Charles, Perrine, Azulay, Jean‐Philippe, Meissner, Wassilios, Rai, Myriam, N'Guyen, Karine, Péréon, Yann, Fabre, Nelly, Robin, Elsa, Courtois, Sylvie, Guyant‐Maréchal, Lucie, Zagnoli, Fabien, Rudolf, Gabrielle, Renaud, Mathilde, Sévin‐Allouet, Mathieu, Lesne, Fabien, Alaerts, Nick, Goizet, Cyril, Calvas, Patrick, and Eusebio, Alexandre

Subjects
AGE factors in disease, COMPARATIVE studies, DNA, ELECTROCARDIOGRAPHY, FRIEDREICH'S ataxia, GLYCOSYLATED hemoglobin, DIGITAL image processing, INTERNATIONAL relations, MAGNETIC resonance imaging, RESEARCH methodology, MEDICAL cooperation, CARDIOMYOPATHIES, NONPARAMETRIC statistics, RESEARCH, PHENOTYPES, EVALUATION research, RETROSPECTIVE studies, SEVERITY of illness index, KAPLAN-Meier estimator, GENOTYPES, DIAGNOSIS
Abstract

Background: Friedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia, occurring after 25 and 40 years, respectively. We describe the clinical, functional, and molecular findings from a large series of late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia and compare them with typical-onset Friedreich's ataxia.Methods: Phenotypic and genotypic comparison of 44 late-onset Friedreich's ataxia, 30 very late-onset Friedreich's ataxia, and 180 typical Friedreich's ataxia was undertaken.Results: Delayed-onset Friedreich's ataxia (late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia) had less frequently dysarthria, abolished tendon reflexes, extensor plantar reflexes, weakness, amyotrophy, ganglionopathy, cerebellar atrophy, scoliosis, and cardiomyopathy than typical-onset Friedreich's ataxia, along with less severe functional disability and shorter GAA expansion on the smaller allele (P < 0.001). Delayed-onset Friedreich's ataxia had lower scale for the assessment and rating of ataxia and spinocerebellar degeneration functional scores and longer disease duration before wheelchair confinement (P < 0.001). Both GAA expansions were negatively correlated to age at disease onset (P < 0.001), but the smaller GAA expansion accounted for 62.9% of age at onset variation and the larger GAA expansion for 15.6%. In this comparative study of late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia, no differences between these phenotypes were demonstrated.Conclusion: Typical- and delayed-onset Friedreich's ataxia are different and Friedreich's ataxia is heterogeneous. Late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia appear to belong to the same clinical and molecular continuum and should be considered together as "delayed-onset Friedreich's ataxia." As the most frequently inherited ataxia, Friedreich's ataxia should be considered facing compatible pictures, including atypical phenotypes (spastic ataxia, retained reflexes, lack of dysarthria, and lack of extraneurological signs), delayed disease onset (even after 60 years of age), and/or slow disease progression. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

235. Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

Author

Tesson, Christelle, primary, Nawara, Magdalena, additional, Salih, Mustafa A.M., additional, Rossignol, Rodrigue, additional, Zaki, Maha S., additional, Al Balwi, Mohammed, additional, Schule, Rebecca, additional, Mignot, Cyril, additional, Obre, Emilie, additional, Bouhouche, Ahmed, additional, Santorelli, Filippo M., additional, Durand, Christelle M., additional, Oteyza, Andrés Caballero, additional, El-Hachimi, Khalid H., additional, Al Drees, Abdulmajeed, additional, Bouslam, Naima, additional, Lamari, Foudil, additional, Elmalik, Salah A., additional, Kabiraj, Mohammad M., additional, Seidahmed, Mohammed Z., additional, Esteves, Typhaine, additional, Gaussen, Marion, additional, Monin, Marie-Lorraine, additional, Gyapay, Gabor, additional, Lechner, Doris, additional, Gonzalez, Michael, additional, Depienne, Christel, additional, Mochel, Fanny, additional, Lavie, Julie, additional, Schols, Ludger, additional, Lacombe, Didier, additional, Yahyaoui, Mohamed, additional, Al Abdulkareem, Ibrahim, additional, Zuchner, Stephan, additional, Yamashita, Atsushi, additional, Benomar, Ali, additional, Goizet, Cyril, additional, Durr, Alexandra, additional, Gleeson, Joseph G., additional, Darios, Frederic, additional, Brice, Alexis, additional, and Stevanin, Giovanni, additional

Published
2012
Full Text
View/download PDF

236. In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Author

Carmignac, Virginie, primary, Thevenon, Julien, additional, Adès, Lesley, additional, Callewaert, Bert, additional, Julia, Sophie, additional, Thauvin-Robinet, Christel, additional, Gueneau, Lucie, additional, Courcet, Jean-Benoit, additional, Lopez, Estelle, additional, Holman, Katherine, additional, Renard, Marjolijn, additional, Plauchu, Henri, additional, Plessis, Ghislaine, additional, De Backer, Julie, additional, Child, Anne, additional, Arno, Gavin, additional, Duplomb, Laurence, additional, Callier, Patrick, additional, Aral, Bernard, additional, Vabres, Pierre, additional, Gigot, Nadège, additional, Arbustini, Eloisa, additional, Grasso, Maurizia, additional, Robinson, Peter N., additional, Goizet, Cyril, additional, Baumann, Clarisse, additional, Di Rocco, Maja, additional, Sanchez Del Pozo, Jaime, additional, Huet, Frédéric, additional, Jondeau, Guillaume, additional, Collod-Beroud, Gwenaëlle, additional, Beroud, Christophe, additional, Amiel, Jeanne, additional, Cormier-Daire, Valérie, additional, Rivière, Jean-Baptiste, additional, Boileau, Catherine, additional, De Paepe, Anne, additional, and Faivre, Laurence, additional

Published
2012
Full Text
View/download PDF

238. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in theTITF1/NKX2-1gene

Author

Gras, Domitille, primary, Jonard, Laurence, additional, Roze, Emmanuel, additional, Chantot-Bastaraud, Sandra, additional, Koht, Jeanette, additional, Motte, Jacques, additional, Rodriguez, Diana, additional, Louha, Malek, additional, Caubel, Isabelle, additional, Kemlin, Isabelle, additional, Lion-François, Laurence, additional, Goizet, Cyril, additional, Guillot, Loic, additional, Moutard, Marie-Laure, additional, Epaud, Ralph, additional, Héron, Bénédicte, additional, Charles, Perrine, additional, Tallot, Marilyn, additional, Camuzat, Agnès, additional, Durr, Alexandra, additional, Polak, Michel, additional, Devos, David, additional, Sanlaville, Damien, additional, Vuillaume, Isabelle, additional, Billette de Villemeur, Thierry, additional, Vidailhet, Marie, additional, and Doummar, Diane, additional

Published
2012
Full Text
View/download PDF

239. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia

Author

Fergelot, Patricia, primary, Coupry, Isabelle, additional, Rooryck, Caroline, additional, Deforges, Julie, additional, Maurat, Elise, additional, Solé, Guilhem, additional, Boute, Odile, additional, Dieux-Coeslier, Anne, additional, David, Albert, additional, Marchal, Cécile, additional, Thambo, Jean-Benoit, additional, Lacombe, Didier, additional, Arveiler, Benoit, additional, and Goizet, Cyril, additional

Published
2012
Full Text
View/download PDF

240. Clinical and Radiological Characteristics in Multiple Sclerosis Patients with Large Cavitary Lesions

Author

Renard, Dimitri, primary, Brochet, Bruno, additional, Vukusic, Sandra, additional, Edan, Gilles, additional, Deburghgraeve, Véronique, additional, Goizet, Cyril, additional, Dupuy, Diane, additional, Touze, Emmanuel, additional, Deschamps, Romain, additional, Zephyr, Hélène, additional, Creange, Alain, additional, Castelnovo, Giovanni, additional, Boespflug-Tanguy, Odile, additional, and Labauge, Pierre, additional

Published
2012
Full Text
View/download PDF

241. Intermediate repeat expansions of TBPand STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Author

Barbier, Mathieu, Davoine, Claire-Sophie, Petit, Emilien, Porché, Maximilien, Guillot-Noel, Léna, Sayah, Sabrina, Fauret, Anne-Laure, Neau, Jean-Philippe, Guyant-Maréchal, Lucie, Deffond, Didier, Tranchant, Christine, Goizet, Cyril, Coarelli, Giulia, Castrioto, Anna, Klebe, Stephan, Ewenczyk, Claire, Heinzmann, Anna, Charles, Perrine, Tchikviladzé, Maya, Van Broeckhoven, Christine, Brice, Alexis, and Durr, Alexandra

Abstract

CAG/CAA repeat expansions in TBP>49are responsible for spinocerebellar ataxia (SCA) type 17 (SCA17). We previously detected cosegregation of STUB1variants causing SCA48 with intermediate alleles of TBPin 2 families. This cosegregation questions the existence of SCA48 as a monogenic disease.

Published
2023
Full Text
View/download PDF

242. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

Author

Nurden, Paquita, primary, Debili, Najet, additional, Coupry, Isabelle, additional, Bryckaert, Marijke, additional, Youlyouz-Marfak, Ibtissam, additional, Solé, Guilhem, additional, Pons, Anne-Cécile, additional, Berrou, Eliane, additional, Adam, Frédéric, additional, Kauskot, Alexandre, additional, Lamazière, Jean-Marie Daniel, additional, Rameau, Philippe, additional, Fergelot, Patricia, additional, Rooryck, Caroline, additional, Cailley, Dorothée, additional, Arveiler, Benoît, additional, Lacombe, Didier, additional, Vainchenker, William, additional, Nurden, Alan, additional, and Goizet, Cyril, additional

Published
2011
Full Text
View/download PDF

244. A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

Author

Carabalona, Aurelie, primary, Beguin, Shirley, additional, Pallesi-Pocachard, Emilie, additional, Buhler, Emmanuelle, additional, Pellegrino, Christophe, additional, Arnaud, Karen, additional, Hubert, Philippe, additional, Oualha, Mehdi, additional, Siffroi, Jean Pierre, additional, Khantane, Sabrina, additional, Coupry, Isabelle, additional, Goizet, Cyril, additional, Gelot, Antoinette Bernabe, additional, Represa, Alfonso, additional, and Cardoso, Carlos, additional

Published
2011
Full Text
View/download PDF

245. REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Author

Goizet, Cyril, primary, Depienne, Christel, additional, Benard, Giovanni, additional, Boukhris, Amir, additional, Mundwiller, Emeline, additional, Solé, Guilhem, additional, Coupry, Isabelle, additional, Pilliod, Julie, additional, Martin-Négrier, Marie-Laure, additional, Fedirko, Estelle, additional, Forlani, Sylvie, additional, Cazeneuve, Cécile, additional, Hannequin, Didier, additional, Charles, Perrine, additional, Feki, Imed, additional, Pinel, Jean-François, additional, Ouvrard-Hernandez, Anne-Marie, additional, Lyonnet, Stanislas, additional, Ollagnon-Roman, Elisabeth, additional, Yaouanq, Jacqueline, additional, Toutain, Annick, additional, Dussert, Christelle, additional, Fontaine, Bertrand, additional, Leguern, Eric, additional, Lacombe, Didier, additional, Durr, Alexandra, additional, Rossignol, Rodrigue, additional, Brice, Alexis, additional, and Stevanin, Giovanni, additional

Published
2011
Full Text
View/download PDF

246. Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I

Author

Rué, Marjory, primary, Lüdecke, Hermann-Josef, additional, Sibon, Igor, additional, Richez, Christophe, additional, Taine, Laurence, additional, Foubert-Samier, Alexandra, additional, Arveiler, Benoit, additional, Schaeverbeke, Thierry, additional, Lacombe, Didier, additional, Tison, François, additional, and Goizet, Cyril, additional

Published
2011
Full Text
View/download PDF

247. Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

Author

Chan, Ellis, primary, Charles, Perrine, additional, Ribai, Pascale, additional, Goizet, Cyril, additional, Marelli, Cecilia, additional, Vincitorio, Carlo‐Maria, additional, Bayon, Alice Le, additional, Guyant‐Maréchal, Lucie, additional, Vandenberghe, Nadia, additional, Anheim, Mathieu, additional, Devos, David, additional, Freeman, Leorah, additional, Ber, Isabelle Le, additional, N'Guyen, Karine, additional, Tchikviladzé, Maya, additional, Labauge, Pierre, additional, Hannequin, Didier, additional, Brice, Alexis, additional, Durr, Alexandra, additional, and du Montcel, Sophie Tezenas, additional

Published
2011
Full Text
View/download PDF

248. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

Author

Masurel-Paulet, Alice, primary, Haan, Eric, additional, Thompson, Elizabeth M., additional, Goizet, Cyril, additional, Thauvin-Robinet, Christel, additional, Tai, Andrew, additional, Kennedy, Declan, additional, Smith, Greg, additional, Khong, Teck Yee, additional, Solé, Guilhem, additional, Guerineau, Elodie, additional, Coupry, Isabelle, additional, Huet, Frédéric, additional, Robertson, Stephen, additional, and Faivre, Laurence, additional

Published
2011
Full Text
View/download PDF

249. Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

Author

Vermeer, Sascha, primary, Hoischen, Alexander, additional, Meijer, Rowdy P.P., additional, Gilissen, Christian, additional, Neveling, Kornelia, additional, Wieskamp, Nienke, additional, de Brouwer, Arjan, additional, Koenig, Michel, additional, Anheim, Mathieu, additional, Assoum, Mirna, additional, Drouot, Nathalie, additional, Todorovic, Slobodanka, additional, Milic-Rasic, Vedrana, additional, Lochmüller, Hanns, additional, Stevanin, Giovanni, additional, Goizet, Cyril, additional, David, Albert, additional, Durr, Alexandra, additional, Brice, Alexis, additional, Kremer, Berry, additional, van de Warrenburg, Bart P.C., additional, Schijvenaars, Mascha M.V.A.P., additional, Heister, Angelien, additional, Kwint, Michael, additional, Arts, Peer, additional, van der Wijst, Jenny, additional, Veltman, Joris, additional, Kamsteeg, Erik-Jan, additional, Scheffer, Hans, additional, and Knoers, Nine, additional

Published
2010
Full Text
View/download PDF

250. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

Author

Jonard, Laurence, primary, Niasme-Grare, Magali, additional, Bonnet, Crystel, additional, Feldmann, Delphine, additional, Rouillon, Isabelle, additional, Loundon, Natalie, additional, Calais, Catherine, additional, Catros, Hélène, additional, David, Albert, additional, Dollfus, Hélène, additional, Drouin-Garraud, Valérie, additional, Duriez, Françoise, additional, Eliot, Marie Madeleine, additional, Fellmann, Florence, additional, Francannet, Christine, additional, Gilbert-Dussardier, Brigitte, additional, Gohler, Catherine, additional, Goizet, Cyril, additional, Journel, Hubert, additional, Mom, Thierry, additional, Thuillier-Obstoy, Marie-Françoise, additional, Couderc, Remy, additional, Garabédian, Eréa Noël, additional, Denoyelle, Françoise, additional, and Marlin, Sandrine, additional

Published
2010
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results