Search Results - "Dubourg, O."

X-chromosome inactivation in female patients with Fabry disease by Echevarria, L., Benistan, K., Toussaint, A., Dubourg, O., Hagege, A.A., Eladari, D., Jabbour, F., Beldjord, C., De Mazancourt, P., Germain, D.P.

“…Fabry disease (FD) is an X‐linked genetic disorder caused by the deficient activity of lysosomal α‐galactosidase (α‐Gal). While males are usually severely…”
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Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases by Elliott, Perry, Andersson, Bert, Arbustini, Eloisa, Bilinska, Zofia, Cecchi, Franco, Charron, Philippe, Dubourg, Olivier, Kühl, Uwe, Maisch, Bernhard, McKenna, William J., Monserrat, Lorenzo, Pankuweit, Sabine, Rapezzi, Claudio, Seferovic, Petar, Tavazzi, Luigi, Keren, Andre

“…In biology, classification systems are used to promote understanding and systematic discussion through the use of logical groups and hierarchies. In clinical…”
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Long-term observational study of sporadic inclusion body myositis by Benveniste, Olivier, Guiguet, Marguerite, Freebody, Jane, Dubourg, Odile, Squier, Waney, Maisonobe, Thierry, Stojkovic, Tanya, Leite, Maria Isabel, Allenbach, Yves, Herson, Serge, Brady, Stefen, Eymard, Bruno, Hilton-Jones, David

“…We describe a long-term observational study of a large cohort of patients with sporadic inclusion body myositis and propose a sporadic inclusion body myositis…”
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Triage strategy for urgent management of cardiac tamponade: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases by Ristić, Arsen D, Imazio, Massimo, Adler, Yehuda, Anastasakis, Aristides, Badano, Luigi P, Brucato, Antonio, Caforio, Alida L P, Dubourg, Olivier, Elliott, Perry, Gimeno, Juan, Helio, Tiina, Klingel, Karin, Linhart, Aleš, Maisch, Bernhard, Mayosi, Bongani, Mogensen, Jens, Pinto, Yigal, Seggewiss, Hubert, Seferović, Petar M, Tavazzi, Luigi, Tomkowski, Witold, Charron, Philippe

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Developments in hereditary neuropathies by Dubourg, O

“…Hereditary sensorimotor neuropathies, or Charcot-Marie-Tooth disease (CMT) comprise a group of diseases with heterogeneous clinical, electrophysiological and…”
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Eosinophilic fasciitis (Shulman disease): new insights into the therapeutic management from a series of 34 patients by Lebeaux, David, Francès, Camille, Barete, Stéphane, Wechsler, Bertrand, Dubourg, Odile, Renoux, Jérôme, Maisonobe, Thierry, Benveniste, Olivier, Gatfossé, Marc, Bourgeois, Pierre, Amoura, Zahir, Cacoub, Patrice, Piette, Jean-Charles, Sène, Damien

“…Objective. To analyse therapeutic management of eosinophilic fasciitis (EF). Methods. We reviewed 34 adult patients with biopsy-proven EF. Analyses focused on…”
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Ischemic stroke: A not so unusual complication of SMART syndrome? by Holay, Q., Monnier, M., Perriguey, M., Gazzola, S., Dubourg, O., Faivre, A.

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Bilateral papillitis concomitant with cytomegalovirus primo-infection in an immunocompetent patient by Perriguey, M., Monnier, M., Holay, Q., Subreville, M., Dubourg, O., Faivre, A.

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Gunshot suicides caused by cane-gun and alarm garden gun cannon: Two cases report. by Rossi, LH, Dubourg, O., Malbranque, S., Jousset, N.

“…Obtaining a firearm is not always easy, which is why some firearms that are antique or whose use is not intended to kiss are modified for suicide purposes. The…”
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Prevention of atrial fibrillation onset by beta-blocker treatment in heart failure: a meta-analysis by Nasr, Imad Abi, Bouzamondo, Anissa, Hulot, Jean-Sébastien, Dubourg, Olivier, Le Heuzey, Jean-Yves, Lechat, Philippe

“…Aims Atrial fibrillation (AF) is an important morbidity-mortality risk factor, especially in patients with heart failure (HF). Beta-blockers reduce morbidity…”
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Phenotypic spectrum of Charcot−Marie−Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients by Guimarães‐Costa, R., Iancu Ferfoglia, R., Leonard‐Louis, S., Ziegler, F., Magy, L., Fournier, E., Dubourg, O., Bouche, P., Maisonobe, T., Lacour, A., Moerman, A., Latour, P., Stojkovic, T.

“…Background and purpose Charcot−Marie−Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of…”
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New CT Index to Quantify Arterial Obstruction in Pulmonary Embolism: Comparison with Angiographic Index and Echocardiography by Qanadli, Salah D, El Hajjam, Mostafa, Vieillard-Baron, Antoine, Joseph, Thierry, Mesurolle, Benoit, Oliva, Vincent L, Barre, Olivier, Bruckert, Frederic, Dubourg, Olivier, Lacombe, Pascal

“…This study was designed to define and evaluate a specific index to quantify arterial obstruction with helical CT in acute pulmonary embolism. Fifty-four…”
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Oedematous myositis: An original subtype of autoimmune myopathy characterised by intense C5-b9 deposits by Allenbach, Y, Duchesne, M, Léonard-Louis, S, Maisonobe, T, Dubourg, O, Hervier, B, Benveniste, O

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Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1 by LE BER, I, DUBOURG, O, BENOIST, J.-F, JARDEL, C, MOCHEL, F, KOENIG, M, BRICE, A, LOMBES, A, DÜRR, A

“…APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10)…”
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Actualités dans les neuropathies héréditaires by Dubourg, O.

“…Les neuropathies héréditaires sensitivomotrices ou maladies de Charcot-Marie-Tooth (CMT) constituent un groupe d’affections des nerfs périphériques,…”
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Charcot–Marie–Tooth type 4B1 ( MTMR2 gene): Confounding clinical presentation and report of 5 original mutations by Guimarães-Costa, R, Latour, P, Ferrer, X, Solé, G, Husson, I, Lacour, A, Dubourg, O, Leonard-Louis, S, Stojkovic, T

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Violence in schools: Prospective study conducted in an emergency reception center for victims of aggression by Dubourg, O, Hiquet, J, Saint-Martin, P, Christin, E, Fougas, J, Gromb-Monnoyeur, S

“…Although violence in schools is quite well conveyed in the media, the French literature data remain patchy, and the figures available arise mainly from surveys…”
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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations by AZZEDINE, H, RAVISE, N, HAMADOUCHE, T, BOUHOUCHE, A, GUILBOT, A, STENDEL, C, RUBERG, M, BRICE, A, BIROUK, N, DUBOURG, O, TAZIR, M, LEGUERN, E, VERNY, C, GABRËELS-FESTEN, A, LAMMENS, M, GRID, D, VALLAT, J. M, DUROSIER, G, SENDEREK, J, NOUIOUA, S

“…Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies with several modes of inheritance: autosomal…”
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Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene by Claeys, K.G, Fardeau, M, Schröder, R, Suominen, T, Tolksdorf, K, Behin, A, Dubourg, O, Eymard, B, Maisonobe, T, Stojkovic, T, Faulkner, G, Richard, P, Vicart, P, Udd, B, Voit, T, Stoltenburg, G

“…Abstract We studied the ultrastructural characteristics in patients with myofibrillar myopathy (MFM) and differentiated between MFM-subtypes using electron…”
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Pulmonary embolism detection: prospective evaluation of dual-section helical CT versus selective pulmonary arteriography in 157 patients by Qanadli, S D, Hajjam, M E, Mesurolle, B, Barré, O, Bruckert, F, Joseph, T, Mignon, F, Vieillard-Baron, A, Dubourg, O, Lacombe, P

“…To evaluate the accuracy of dual-section helical computed tomography (CT) in acute pulmonary embolism (PE) diagnosis. Of 204 consecutive patients with…”
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