Search

Your search keyword '"P. Laforet"' showing total 352 results
Start Over Author "P. Laforet"
352 results on '"P. Laforet"'

1. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience

Author

A. T. van der Ploeg, M. Ую Kruijshaar, A. Toscano, P. Laforet, C. Angelini, R. H. Lachmann, S. I. Pascual Pascual, M. Roberts, K. Rosler, T. Stulnig, P. A. van Doorn, P.Y. K. Van den Bergh, J. Vissing, and B. Schoser

Subjects
взрослые пациенты, алглюкозидаза альфа, ферментная заместительная терапия, руководство, болезнь помпе, рекомендации по лечению, Neurology. Diseases of the nervous system, RC346-429
Published
2019
Full Text
View/download PDF

4. Spinal muscular atrophy is also a disorder of spermatogenesis

Author

Magot, Armelle, Reignier, Arnaud, Binois, Olivier, Bedat-Millet, Anne Laure, Davion, Jean-Baptiste, Debergé, Louise, Ghorab, Karima, Guyant, Lucie, Laheranne, Émilie, Laforet, Pascal, Lefeuvre, Claire, Mallaret, Martial, Michaud, Maud, Omar, Chahla, Nadaj-Pakleza, Aleksandra, Nicolas, Guillaume, Noury, Jean Baptiste, Pegat, Antoine, Péré, Morgane, Salort-Campana, Emmanuelle, Sole, Guilhem, Spinazzi, Marco, Tard, Céline, Vuillerot, Carole, and Péréon, Yann

Published
2024
Full Text
View/download PDF

5. Influx of nitrogen-rich material from the outer Solar System indicated by iron nitride in Ryugu samples

Author

Matsumoto, Toru, Noguchi, Takaaki, Miyake, Akira, Igami, Yohei, Haruta, Mitsutaka, Seto, Yusuke, Miyahara, Masaaki, Tomioka, Naotaka, Saito, Hikaru, Hata, Satoshi, Harries, Dennis, Takigawa, Aki, Nakauchi, Yusuke, Tachibana, Shogo, Nakamura, Tomoki, Matsumoto, Megumi, Ishii, Hope A., Bradley, John P., Ohtaki, Kenta, Dobrică, Elena, Leroux, Hugues, Le Guillou, Corentin, Jacob, Damien, de la Peña, Francisco, Laforet, Sylvain, Marinova, Maya, Langenhorst, Falko, Beck, Pierre, Phan, Thi H. V., Rebois, Rolando, Abreu, Neyda M., Gray, Jennifer, Zega, Thomas, Zanetta, Pierre-M., Thompson, Michelle S., Stroud, Rhonda, Burgess, Kate, Cymes, Brittany A., Bridges, John C., Hicks, Leon, Lee, Martin R., Daly, Luke, Bland, Phil A., Zolensky, Michael E., Frank, David R., Martinez, James, Tsuchiyama, Akira, Yasutake, Masahiro, Matsuno, Junya, Okumura, Shota, Mitsukawa, Itaru, Uesugi, Kentaro, Uesugi, Masayuki, Takeuchi, Akihisa, Sun, Mingqi, Enju, Satomi, Michikami, Tatsuhiro, Yurimoto, Hisayoshi, Okazaki, Ryuji, Yabuta, Hikaru, Naraoka, Hiroshi, Sakamoto, Kanako, Yada, Toru, Nishimura, Masahiro, Nakato, Aiko, Miyazaki, Akiko, Yogata, Kasumi, Abe, Masanao, Okada, Tatsuaki, Usui, Tomohiro, Yoshikawa, Makoto, Saiki, Takanao, Tanaka, Satoshi, Terui, Fuyuto, Nakazawa, Satoru, Watanabe, Sei-ichiro, and Tsuda, Yuichi

Published
2024
Full Text
View/download PDF

6. Elevated TNF-α Leads to Neural Circuit Instability in the Absence of Interferon Regulatory Factor 8.

Author

Feinberg, Philip, Becker, Shannon, Chung, Leeyup, Ferrari, Loris, Stellwagen, David, Anaclet, Christelle, Durán-Laforet, Violeta, Faust, Travis, Sumbria, Rachita, and Schafer, Dorothy

Subjects
IRF8, TNF alpha, microglia, neural-immune, seizures, synapses, Animals, Female, Interferon Regulatory Factors, Male, Mice, Multiple Sclerosis, Seizures, Tumor Necrosis Factor-alpha
Abstract

Interferon regulatory factor 8 (IRF8) is a transcription factor necessary for the maturation of microglia, as well as other peripheral immune cells. It also regulates the transition of microglia and other immune cells to a pro-inflammatory phenotype. Irf8 is also a known risk gene for multiple sclerosis and lupus, and it has recently been shown to be downregulated in schizophrenia. While most studies have focused on IRF8-dependent regulation of immune cell function, little is known about how it impacts neural circuits. Here, we show by RNAseq from Irf8 -/- male and female mouse brains that several genes involved in regulation of neural activity are dysregulated. We then show that these molecular changes are reflected in heightened neural excitability and a profound increase in susceptibility to lethal seizures in male and female Irf8 -/- mice. Finally, we identify that TNF-α is elevated specifically in microglia in the CNS, and genetic or acute pharmacological blockade of TNF-α in the Irf8 -/- CNS rescued the seizure phenotype. These results provide important insights into the consequences of IRF8 signaling and TNF-α on neural circuits. Our data further suggest that neuronal function is impacted by loss of IRF8, a factor involved in neuropsychiatric and neurodegenerative diseases.SIGNIFICANCE STATEMENT Here, we identify a previously unknown and key role for interferon regulator factor 8 (IRF8) in regulating neural excitability and seizures. We further determine that these effects on neural circuits are through elevated TNF-α in the CNS. As IRF8 has most widely been studied in the context of regulating the development and inflammatory signaling in microglia and other immune cells, we have uncovered a novel function. Further, IRF8 is a risk gene for multiple sclerosis and lupus, IRF8 is dysregulated in schizophrenia, and elevated TNF-α has been identified in a multitude of neurologic conditions. Thus, elucidating these IRF8 and TNF-α-dependent effects on brain circuit function has profound implications for understanding underlying, therapeutically relevant mechanisms of disease.

Published
2022

7. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Author

Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, and Diaz-Manera, Jordi

Subjects
FRONTOTEMPORAL DEMENTIA, GENETICS, INCL BODY MYOSITIS, MUSCLE DISEASE, MYOPATHY
Abstract

BACKGROUND: Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Pagets disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. METHODS: Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. RESULTS: Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC

Published
2022

8. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Author

Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi

Published
2023
Full Text
View/download PDF

9. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

Author

Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi

Published
2024
Full Text
View/download PDF

10. A dehydrated space-weathered skin cloaking the hydrated interior of Ryugu

Author

Noguchi, Takaaki, Matsumoto, Toru, Miyake, Akira, Igami, Yohei, Haruta, Mitsutaka, Saito, Hikaru, Hata, Satoshi, Seto, Yusuke, Miyahara, Masaaki, Tomioka, Naotaka, Ishii, Hope A., Bradley, John P., Ohtaki, Kenta K., Dobrică, Elena, Leroux, Hugues, Le Guillou, Corentin, Jacob, Damien, de la Peña, Francisco, Laforet, Sylvain, Marinova, Maya, Langenhorst, Falko, Harries, Dennis, Beck, Pierre, Phan, Thi H. V., Rebois, Rolando, Abreu, Neyda M., Gray, Jennifer, Zega, Thomas, Zanetta, Pierre-M., Thompson, Michelle S., Stroud, Rhonda, Burgess, Kate, Cymes, Brittany A., Bridges, John C., Hicks, Leon, Lee, Martin R., Daly, Luke, Bland, Phil A., Zolensky, Michael E., Frank, David R., Martinez, James, Tsuchiyama, Akira, Yasutake, Masahiro, Matsuno, Junya, Okumura, Shota, Mitsukawa, Itaru, Uesugi, Kentaro, Uesugi, Masayuki, Takeuchi, Akihisa, Sun, Mingqi, Enju, Satomi, Takigawa, Aki, Michikami, Tatsuhiro, Nakamura, Tomoki, Matsumoto, Megumi, Nakauchi, Yusuke, Abe, Masanao, Arakawa, Masahiko, Fujii, Atsushi, Hayakawa, Masahiko, Hirata, Naru, Hirata, Naoyuki, Honda, Rie, Honda, Chikatoshi, Hosoda, Satoshi, Iijima, Yu-ichi, Ikeda, Hitoshi, Ishiguro, Masateru, Ishihara, Yoshiaki, Iwata, Takahiro, Kawahara, Kousuke, Kikuchi, Shota, Kitazato, Kohei, Matsumoto, Koji, Matsuoka, Moe, Mimasu, Yuya, Miura, Akira, Morota, Tomokatsu, Nakazawa, Satoru, Namiki, Noriyuki, Noda, Hirotomo, Noguchi, Rina, Ogawa, Naoko, Ogawa, Kazunori, Okada, Tatsuaki, Okamoto, Chisato, Ono, Go, Ozaki, Masanobu, Saiki, Takanao, Sakatani, Naoya, Sawada, Hirotaka, Senshu, Hiroki, Shimaki, Yuri, Shirai, Kei, Sugita, Seiji, Takei, Yuto, Takeuchi, Hiroshi, Tanaka, Satoshi, Tatsumi, Eri, Terui, Fuyuto, Tsukizaki, Ryudo, Wada, Koji, Yamada, Manabu, Yamada, Tetsuya, Yamamoto, Yukio, Yano, Hajime, Yokota, Yasuhiro, Yoshihara, Keisuke, Yoshikawa, Makoto, Yoshikawa, Kent, Fukai, Ryohta, Furuya, Shizuho, Hatakeda, Kentaro, Hayashi, Tasuku, Hitomi, Yuya, Kumagai, Kazuya, Miyazaki, Akiko, Nakato, Aiko, Nishimura, Masahiro, Soejima, Hiromichi, Suzuki, Ayako I., Usui, Tomohiro, Yada, Toru, Yamamoto, Daiki, Yogata, Kasumi, Yoshitake, Miwa, Connolly, Jr, Harold C., Lauretta, Dante S., Yurimoto, Hisayoshi, Nagashima, Kazuhide, Kawasaki, Noriyuki, Sakamoto, Naoya, Okazaki, Ryuji, Yabuta, Hikaru, Naraoka, Hiroshi, Sakamoto, Kanako, Tachibana, Shogo, Watanabe, Sei-ichiro, and Tsuda, Yuichi

Published
2023
Full Text
View/download PDF

15. Endothelial cells regulate astrocyte to neural progenitor cell trans-differentiation in a mouse model of stroke

Author

Li, Wenlu, Mandeville, Emiri T., Durán-Laforet, Violeta, Fukuda, Norito, Yu, Zhanyang, Zheng, Yi, Held, Aaron, Park, Ji-Hyun, Nakano, Takafumi, Tanaka, Masayoshi, Shi, Jingfei, Esposito, Elga, Niu, Wanting, Xing, Changhong, Hayakawa, Kazuhide, Lizasoain, Ignacio, van Leyen, Klaus, Ji, Xunming, Wainger, Brian J., Moro, Maria A., and Lo, Eng H.

Published
2022
Full Text
View/download PDF

16. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Author

Byrne, Barry J, Geberhiwot, Tarekegn, Barshop, Bruce A, Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, Walsh, Liron, and on behalf of the POM-001/002 Investigators

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Chronic Liver Disease and Cirrhosis, Rare Diseases, Liver Disease, Lung, Clinical Research, Digestive Diseases, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adult, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II, Humans, Male, Middle Aged, Muscle, Skeletal, alpha-Glucosidases, Reveglucosidase alfa, Late-onset Pompe disease, Enzyme replacement therapy, Pharmacokinetics, Safety, Efficacy, Respiratory, Pulmonary, POM-001/002 Investigators, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
Abstract

BackgroundLate-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA.ResultsReveglucosidase alfa plasma concentrations increased linearly with dose, and the elimination half-life was

Published
2017

17. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

Author

Kishnani, Priya, Tarnopolsky, Mark, Roberts, Mark, Sivakumar, Kumarswamy, Dasouki, Majed, Dimachkie, Mazen M, Finanger, Erika, Goker-Alpan, Ozlem, Guter, Karl A, Mozaffar, Tahseen, Pervaiz, Muhammad Ali, Laforet, Pascal, Levine, Todd, Adera, Matthews, Lazauskas, Richard, Sitaraman, Sheela, Khanna, Richie, Benjamin, Elfrida, Feng, Jessie, Flanagan, John J, Barth, Jay, Barlow, Carrolee, Lockhart, David J, Valenzano, Kenneth J, Boudes, Pol, Johnson, Franklin K, and Byrne, Barry

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Rare Diseases, Chronic Liver Disease and Cirrhosis, Digestive Diseases, Liver Disease, 5.1 Pharmaceuticals, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Development of treatments and therapeutic interventions, 1-Deoxynojirimycin, Administration, Oral, Adult, Drug Administration Schedule, Drug Synergism, Drug Therapy, Combination, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II, Humans, Infusions, Intravenous, Lysosomes, Male, Middle Aged, Muscle, Skeletal, Patient Safety, Treatment Outcome, alpha-Glucosidases, Pompe disease, enzyme replacement therapy, pharmacokinetics, pharmacological chaperone, Biological Sciences, Technology, Medical and Health Sciences, Biotechnology, Genetics, Clinical sciences, Medical biotechnology
Abstract

Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombinant human GAA (alglucosidase alfa [AA], Genzyme). Based on preclinical data, oral co-administration of duvoglustat HCl with AA increases exposure of active levels in plasma and skeletal muscles, leading to greater substrate reduction in muscle. This phase 2a study consisted of an open-label, fixed-treatment sequence that evaluated the effect of single oral doses of 50 mg, 100 mg, 250 mg, or 600 mg duvoglustat HCl on the pharmacokinetics and tissue levels of intravenously infused AA (20 mg/kg) in Pompe patients. AA alone resulted in increases in total GAA activity and protein in plasma compared to baseline. Following co-administration with duvoglustat HCl, total GAA activity and protein in plasma were further increased 1.2- to 2.8-fold compared to AA alone in all 25 Pompe patients; importantly, muscle GAA activity was increased for all co-administration treatments from day 3 biopsy specimens. No duvoglustat-related adverse events or drug-related tolerability issues were identified.

Published
2017

19. Disease-related determinants of quality of life 10 years after clinically isolated syndrome.

Author

Kinkel, R, Laforet, Genevieve, and You, Xiaojun

Abstract

BACKGROUND: The main clinical determinants of quality of life (QOL) 5 years after clinically isolated syndrome (CIS) are Expanded Disability Status Scale (EDSS) score and conversion to clinically definite multiple sclerosis (CDMS). The aim of this study was to determine the demographic, clinical, and magnetic resonance imaging (MRI) factors associated with QOL 10 years after CIS. METHODS: Controlled High Risk Avonex® Multiple Sclerosis Prevention Study in Ongoing Neurologic Surveillance (CHAMPIONS) 10-year patients were assessed for CDMS, EDSS score, MRI T2 activity, brain parenchymal fraction, and patient-reported QOL. Associations were evaluated using analysis of variance models. RESULTS: A second clinical event consistent with CDMS and higher EDSS scores at years 5 and 10 were associated with lower 36-item Short Form Health Status Survey (SF-36) Physical Component Summary scores at year 10 (P < .01). Patients with earlier onset of CDMS had worse patient-reported Physical Component Summary, SF-36 Mental Component Summary, fatigue, and pain scores at year 10 than patients with later or no onset of CDMS. Neither initial randomization group nor any MRI metrics assessed at baseline or during follow-up were associated with QOL at 10 years. CONCLUSIONS: These results support the development of therapies for patients with CIS that significantly reduce the risk of conversion to CDMS and the progression of physical disability to milestones as low as EDSS scores of 2.0.

Published
2015

21. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Author

Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., and Carlier, Robert Y.

Published
2020
Full Text
View/download PDF

30. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Author

Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curtis, Ollagnon-Roman, Elisabeth, Roper, Helen, Boutte, Célia, Ben-Shachar, Shay, Lornage, Xavière, Vasli, Nasim, Schaefer, Elise, Laforet, Pascal, Pouget, Jean, Moerman, Alexandre, Pasquier, Laurent, Marcorelle, Pascale, Magot, Armelle, Küsters, Benno, Streichenberger, Nathalie, Tranchant, Christine, Dondaine, Nicolas, Schneider, Raphael, Gasnier, Claire, Calmels, Nadège, Kremer, Valérie, Nguyen, Karine, Perrier, Julie, Kamsteeg, Erik Jan, Carlier, Pierre, Carlier, Robert-Yves, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Fardeau, Michel, Zanoteli, Edmar, Eymard, Bruno, and Laporte, Jocelyn

Published
2017
Full Text
View/download PDF

31. Proceedings of Réanimation 2017, the French Intensive Care Society International Congress

Author

Bougouin, Wulfran, Marijon, Eloi, Planquette, Benjamin, Karam, Nicole, Dumas, Florence, Celermajer, David, Jost, Daniel, Lamhaut, Lionel, Beganton, Frankie, Cariou, Alain, Meyer, Guy, Jouven, Xavier, Bureau, Côme, Charpentier, Julien, Salem, Omar Ben Hadj, Guillemet, Lucie, Arnaout, Michel, Ferre, Alexis, Geri, Guillaume, Mongardon, Nicolas, Pène, Frédéric, Chiche, Jean-Daniel, Mira, Jean-Paul, Labro, Guylaine, Belon, François, Luu, Vinh-Phuc, Chenet, Julien, Besch, Guillaume, Puyraveau, Marc, Piton, Gaël, Capellier, Gilles, Martin, Maëlle, Lascarrou, Jean-Baptiste, Le Thuaut, Aurélie, Lacherade, Jean-Claude, Martin-Lefèvre, Laurent, Fiancette, Maud, Vinatier, Isabelle, Lebert, Christine, Bachoumas, Konstantinos, Yehia, Aihem, Henry-Laguarrigue, Matthieu, Colin, Gwenhaël, Reignier, Jean, Privat, Elodie, Escutnaire, Joséphine, Dumont, Cyrielle, Baert, Valentine, Vilhelm, Christian, Hubert, Hervé, Robert-Edan, Vincent, Lakhal, Karim, Quartin, Andrew, Hobbs, Brian, Cely, Cynthia, Bell, Cynthia, Pham, Tai, Schein, Roland, Geng, Yimin, Ng, Chaan, Ehrmann, Stephan, Gandonnière, Charlotte Salmon, Boisramé-Helms, Julie, Le Tilly, Olivier, De Bretagne, Isabelle Benz, Mercier, Emmanuelle, Mankikian, Julie, Bretagnol, Anne, Meziani, Ferhat, Halimi, Jean Michel, Le Guellec, Chantal Barin, Gaudry, Stéphane, Hajage, David, Tubach, Florence, Pons, Bertrand, Boulet, Eric, Boyer, Alexandre, Chevrel, Guillaume, Lerolle, Nicolas, Carpentier, Dorothée, de Prost, Nicolas, Lautrette, Alexandre, Mayaux, Julien, Nseir, Saad, Ricard, Jean-Damien, Dreyfuss, Didier, Robert, René, Garzotto, Franscesco, Kipnis, Eric, Tetta, Ciro, Ronco, Claudio, Schnell, David, Aurelie, Bourmaud, Reynaud, Marie, Clec’h, Christophe, Benyamina, Mourad, Vincent, François, Mariat, Christophe, Bornstain, Caroline, Rouleau, Stephane, Leroy, Christophe, Cohen, Yves, Morel, Jerome, Legrand, Matthieu, Terreaux, Jeremy, Darmon, Michaël, Cantier, Marie, Morisot, Adeline, Guérot, Emmanuel, Canet, Emmanuel, De Montmollin, Etienne, Voiriot, Guillaume, Neuville, Mathilde, Timsit, Jean-François, Sonneville, Romain, Fayssoil, Abdallah, Stojkovic, Tania, Behin, Anthony, Ogna, Adam, Lofaso, Frédéric, Laforet, Pascal, Wahbi, Karim, Prigent, Helene, Duboc, Denis, Orlikowski, David, Eymard, Bruno, Annane, Djillali, Le Guennec, Loic, Cholet, Clémentine, Bréchot, Nicolas, Hekimian, Guillaume, Besset, Sébastien, Lebreton, Guillaume, Nieszkowska, Ania, Trouillet, Jean Louis, Leprince, Pascal, Combes, Alain, Luyt, Charles-Edouard, Griton, Marion, Sesay, Musa, De Panthou, Nadia Sibaï, Bienvenu, Thomas, Biais, Matthieu, Nouette-Gaulain, Karine, Fossat, Guillaume, Baudin, Florian, Coulanges, Cécile, Bobet, Sabrine, Dupont, Arnaud, Courtes, Léa, Benzekri, Dalila, Kamel, Toufik, Muller, Grégoire, Bercault, Nicolas, Barbier, François, Runge, Isabelle, Skarzynski, Marie, Mathonnet, Armelle, Boulain, Thierry, Jouan, Youenn, Teixera, Noémie, Hassen-Khodja, Claire, Guillon, Antoine, Gaborit, Christophe, Grammatico-Guillon, Leslie, Rebière, Cécile, Azoulay, Elie, Misset, Benoit, Ruckly, Stephane, Garrouste-Orgeas, Maïté, Kentish-Barnes, Nancy, Duranteau, Jacques, Thuong, Marie, Joseph, Liliane, Renault, Anne, Lesieur, Olivier, Larbi, Anne-Gaelle Si, Viquesnel, Gérald, Zuber, Benjamin, Marque, Sophie, Kandelman, Stanislas, Pichon, Nicolas, Floccard, Bernard, Galon, Marion, Chevret, Sylvie, Kentish-Barnes, Nancy, Seegers, Valérie, Legriel, Stéphane, Jaber, Samir, Lefrant, Jean Yves, Reuter, Danielle, Guisset, Olivier, Cracco, Christophe, Seguin, Amélie, Durand-Gasselin, Jacques, Thirion, Marine, Cohen-Solal, Zoé, Foulgoc, Hélène, Rogier, Julien, Delobbe, Elsa, Schortgen, Frédérique, Asfar, Pierre, Julie, Boisramé-Helms, Grimaldi, David, Fabien, Grelon, Anguel, Nadia, Sigismond, Lasocki, Matthieu, Henry-Lagarrigue, Gonzalez, Frédéric, François, Legay, Guitton, Christophe, Schenck, Maleka, Jean-Marc, Doise, Radermacher, Peter, Kentish-Barnes, Nancy, Makunza, Joseph Nsiala, Nathalie, Mejeni Kamdem, Pierre, Akilimali, Adolphe, Kilembe Manzanza, Mahieu, Rafael, Reydel, Thomas, Jamet, Angéline, Chudeau, Nicolas, Huntzinger, Julien, Grange, Steven, Courte, Anne, Lemarie, Jérémie, Gibot, Sébastien, Champey, Julia, Dellamonica, Jean, Du Cheyron, Damien, Contou, Damien, Tadié, Jean-Marc, Cour, Martin, Beduneau, Gaetan, Marchalot, Antoine, Guérin, Laurent, Jochmans, Sebastien, Terzi, Nicolas, Preau, Sebastien, Brun-Buisson, Christian, Dessap, Armand Mekontso, Vedrenne-Cloquet, Meryl, Breinig, Sophie, Jung, Camille, Brussieux, Maxime, Marcoux, Marie-Odile, Durrmeyer, Xavier, Blondé, Renaud, Angoulvant, François, Grasset, Jérôme, Naudin, Jérôme, Dauger, Stéphane, Remy, Solenn, Kolev-Descamp, Karine, Demaret, Julie, Monneret, Guillaume, Javouhey, Etienne, Chomton, Maryline, Sauthier, Michaël, Vallieres, Emilie, Jouvet, Philippe, Geslain, Guillaume, Guellec, Isabelle, Rambaud, Jérôme, Schmidt, Matthieu, Schellongowski, Peter, Dorget, Amandine, Patroniti, Nicolo, Taccone, Fabio Silvio, Miranda, Dinis Reis, Reuter, Jean, Prodanovic, Hélène, Pierrot, Marc, Balik, Martin, Park, Sunghoon, Guérin, Claude, Papazian, Laurent, Jean, Reignier, Ayzac, Louis, Loundou, Anderson, Forel, Jean-Marie, Mezidi, Mehdi, Aublanc, Mylène, Perinel-Ragey, Sophie, Lissonde, Floriane, Louf-Durier, Aurore, Tapponnier, Romain, Yonis, Hodane, Coudroy, Remi, Frat, Jean-Pierre, Boissier, Florence, Thille, Arnaud W., Richard, Flore, Le Gullou-Guillemette, Hélène, Fahri, Jonathan, Kouatchet, Achille, Bodet-Contentin, Laetitia, Garot, Denis, Le Pennec, Déborah, Vecellio, Laurent, Tavernier, Elsa, Dequin, Pierre François, Messika, Jonathan, Martin, Yolaine, Maquigneau, Natacha, Puechberty, Christelle, Stoclin, Annabelle, Villard, Serge, Dechanet, Aline, De Jong, Audrey, Monnin, Marion, Girard, Mehdi, Chanques, Gérald, Molinari, Nicolas, Decavèle, Maxens, Campion, Sébastien, Ainsouya, Roukia, Niérat, Marie-Cécile, Raux, Mathieu, Similowski, Thomas, Demoule, Alexandre, Razazi, Keyvan, Tchir, Martial, May, Faten, Carteaux, Guillaume, Pauline, Rougevin-Baville, Marc, Andronikof, Bedos, Jean Pierre, Mehrsa, Koukabi, Mauger-Briche, Carole, Mijon, François, Trouiller, Pierre, Sztrymf, Benjamin, Cretallaz, Pierre, Mermillod-Blondin, Romain, Savary, Dominique, Sedghiani, Ines, Doghri, Hamdi, Jendoubi, Asma, Hamdi, Dhekra, Cherif, Mohamed Ali, Hechmi, Youssef Zied El, Zouheir, Jerbi, Persico, Nicolas, Maltese, Francois, Ferrigno, Cécile, Bablon, Amandine, Marmillot, Cécile, Roch, Antoine, Sedghiani, Ines, Papin, Grégory, Gainnier, Marc, Argaud, Laurent, Christophe, Adrie, Souweine, Bertrand, Goldgran-Toledano, Dany, Marcotte, Guillaume, Dumenil, Anne Sylvie, Carole, Schwebel, Cecchini, Jerôme, Tuffet, Samuel, Fartoukh, Muriel, Roux, Damien, Thyrault, Martial, Armand, Mekontso Dessap, Chauveau, Simon, Wesner, Nadège, Monnier-Cholley, Laurence, Bigé, Naïke, Ait-Oufella, Hafid, Guidet, Bertrand, Dubée, Vincent, Labroca, Pierre, Lemarié, Jérémie, Chiesa, Gérard, Laroyenne, Isabelle, Borrini, Léo, Klotz, Rémi, Sy, Quoc Phan, Cristina, Marie-Christine, Paysant, Jean, Fillâtre, Pierre, Gacouin, Arnaud, Revest, Matthieu, Tattevin, Pierre, Flecher, Erwan, Le Tulzo, Yves, Jamme, Matthieu, Daviaud, Fabrice, Marin, Nathalie, Thy, Michael, Duceau, Baptiste, Ardisson, Fanny, Sandrine, Valade, Venot, Marion, Schlemmer, Benoît, Zafrani, Lara, Pons, Stéphanie, Styfalova, Lenka, Bouadma, Lila, Radjou, Aguila, Lebut, Jordane, Mourvillier, Bruno, Dorent, Richard, Dilly, Marie-Pierre, Nataf, Patrick, Wolff, Michel, Le Gall, Aëlle, Bourcier, Simon, Tandjaoui-Lambiotte, Yacine, Das, Vincent, Alves, Mikael, Bigé, Naïke, Kamilia, Chtara, Rania, Ammar, Baccouch, Najeh, Turki, Olfa, Ben, Hmida Chokri, Bahloul, Mabrouk, Bouaziz, Mounir, Dupuis, Claire, Perozziello, Anne, Letheulle, Julien, Valette, Marc, Herrmann-Storck, Cécile, Crosby, Laura, Elkoun, Khalid, Madeux, Benjamin, Martino, Frédéric, Migueres, Hélène, Piednoir, Pascale, Posch, Matthias, Thiery, Guillaume, Huynh-Ky, Minh-Tu, Bouchard, Pierre Alexandre, Sarrazin, Jean-François, Lellouche, François, Nay, Mai-Anh, Lortat-Jacob, Brice, Rozec, Bertrand, Colnot, Marion, Belin, Nicolas, Barrot, Loïc, Navellou, Jean-Christophe, Patry, Cyrille, Chaignat, Claire, Claveau, Melanie, Claude, Frédéric, Aubron, Cécile, Mcquilten, Zoe, Bailey, Michael, Board, Jasmin, Buhr, Heidi, Cartwright, Bruce, Dennis, Mark, Forrest, Paul, Hodgson, Carol, Mcilroy, David, Murphy, Deirdre, Murray, Lynnette, Pellegrino, Vincent, Pilcher, David, Sheldrake, Jayne, Tran, Huyen, Vallance, Shirley, Cooper, Jamie, Bombled, Camille, Vidal, Charles, Margetis, Dimitri, Amour, Julien, Coart, Domien, Dubois, Jasperina, Van Herpe, Tom, Mesotten, Dieter, Bailly, Sébastien, Lucet, Jc, Lepape, Alain, L’hériteau, François, Aupée, Martine, Bervas, Caroline, Boussat, Sandrine, Berger-Carbonne, Anne, Machut, Anaïs, Savey, Anne, Tudesq, Jean-Jacques, Valade, Sandrine, Galicier, Lionel, De Bazelaire, Cédric, Munoz-Bongrand, Nicolas, Mignard, Xavier, Biard, Lucie, Mokart, Djamel, Nyunga, Martine, Bruneel, Fabrice, Rabbat, Antoine, Perez, Pierre, Meert, Anne Pascale, Benoit, Dominique, Mariotte, Eric, Ehooman, Franck, Hamidfar-Roy, Rebecca, Hourmant, Yannick, Mailloux, Arnaud, Beurton, Alexandra, Teboul, Jean-Louis, Girroto, Valentina, Laura, Galarza, Richard, Christian, Monnet, Xavier, Dubée, Vincent, Merdji, Hamid, Dang, Julien, Preda, Gabriel, Baudel, Jean-Luc, Desnos, Cyrielle, Zeitouni, Michel, Belaroussi, Ines, Parrot, Antoine, Blayau, Clarisse, Fulgencio, Jean-Pierre, Quesnel, Christophe, Labbe, Vincent, De Chambrun, Marc Pineton, Beloncle, François, Merceron, Sybille, Fedun, Yannick, Lecomte, Bernard, Devaquet, Jérôme, Puidupin, Marc, Verdière, Bruno, Amoura, Zahir, Vuillard, Constance, Xavier, Jais, Bourlier, Delphine, David, Amar, Caroline, Sattler, David, Montani, Gerald, Simmoneau, Olivier, Sitbon, Humbert, Marc, Laurent, Savale, Dujardin, Olivier, Bouglé, Adrien, Ait, Hamou Nora, Salem, Joe Elie, El-Helali, Najoua, Coppere, Zoé, Gibelin, Aude, Taconet, Clementine, Djibre, Michel, Maamar, Adel, Colobert, Elen, Fillatre, Pierre, Uhel, Fabrice, Camus, Christophe, Moraly, Josquin, Dahoumane, Redouane, Maury, Eric, Tan, Boun Kim, Emmanuel, Vivier, Pauline, Misslin, Laurence, Parmeland, Philippe, Poirié, Zahar, Jean-Ralph, Catherine, Haond, Christian, Pommier, Karim, Ait-Bouziad, Mounia, Hocine, Laura, Témime, Rasoldier, Vero Hanitra, Mager, Guy, Eraldi, Jean-Pierre, Gelinotte, Stéphanie, Bougerol, François, Dehay, Julien, Rigaud, Jean-Philippe, Declercq, Pierre Louis, Michel, Julien, Aissa, Nejla, Henard, Sandrine, Guerci, Philippe, Latar, Ichraq, Levy, Bruno, Girerd, Nicolas, Kimmoun, Antoine, Abdallah, Saousen Ben, Nakaa, Sabrine, Hraiech, Kmar, Braiek, Dhouha Ben, Adhieb, Ali, M’ghirbi, Abdelwaheb, Ousji, Ali, Hammouda, Zeineb, Abroug, Fekri, Sellami, Walid, Hajjej, Zied, Samoud, Walid, Labbene, Iheb, Ferjani, Mustapha, Medhioub, Fatma Kaaniche, Allela, Rania, Algia, Najla Ben, Cherif, Samar, Attia, Delphine, Herinjatovo, Andrianjafy, Francois, Xavier Laborne, Bouhouri, Med Aziz, Slaoui, Mohamed Taoufik, Soufi, A., Khaleq, K., Hamoudi, D., Nsiri, A., Harrar, R., Maury, Eric, Goursaud, Suzanne, Gauberti, Maxime, Labeyrie, Paul-Emile, Gaberel, Thomas, Agin, Véronique, Maubert, Eric, Vivien, Denis, Gakuba, Clément, Armel, Anwar, Abdou, Rchi, Kalouch, Samira, Yaqini, Khalid, Chlilek, Aziz, Sellami, Walid, Yedder, Soumaya Ben, Tonnelier, Alexandre, Hervé, Fabien, Halley, Guillaume, Frances, Jean-Luc, Moriconi, Mickael, Saoli, Mathieu, Garnero, Aude, Demory, Didier, Arnal, Jean Michel, Canoville, Bertrand, Daubin, Cédric, Brunet, Jennifer, Ghezala, Hassen Ben, Snouda, Salah, Ben, Chiekh Imen, Kaddour, Moez, Ouanes, Islem, Marzouk, Mahdi, Haniez, Françoise, Jaillet, Hélène, Maas, Henri, Andrivet, Pierre, Darné, Christian, Viau, François, Ghezala, Hassen Ben, Ouanes, Islem, Dangers, Laurence, Montlahuc, Claire, Perbet, Sébastien, Ouanes, Islem, Hamouda, Zeineb, Nakee, Sabrine, Ouanes-Besbes, Lamia, Meddeb, Khaoula, Khedher, Ahmed, Sma, Nesrine, Ayachi, Jihene, Khelfa, Messaouda, Fraj, Nesrine, Lakhal, Hend Ben, Hammed, Hedia, Boukadida, Raja, Hafsa, Hajer, Chouchene, Imed, Boussarsar, Mohamed, Ben, Braiek Dhouha, Ouanes-Besbes, Lamia, Benatti, Kaoutar, Dafir, A., Aissaoui, W., Elallame, W., Haddad, W., Cherkab, R., Elkettani, C., Barrou, L., Hamou, Zakaria Ait, Repessé, Xavier, Charron, Cyril, Aubry, Alix, Paternot, Alexis, Maizel, Julien, Slama, Michel, Vieillard-Baron, Antoine, Trifi, Ahlem, Abdellatif, Sami, Fatnassi, Meriem, Daly, Foued, Nasri, Rochdi, Ismail, Khaoula Ben, Lakhal, Salah Ben, Bazalgette, Florian, Daurat, Aurelien, Roger, Claire, Muller, Laurent, Doyen, Denis, Plattier, Rémi, Robert, Alexandre, Hyvernat, Hervé, Bernardin, Gilles, Jozwiak, Mathieu, Gimenez, Julia, Mercado, Pablo, Depret, François, Tilouch, Najla, Mater, Houda, Habiba, Ben Sik Ali, Jaoued, Oussama, Gharbi, Rim, Hassen, Mohamed Fekih, Elatrous, Souheil, Pasquier, Pierre, Vuillemin, Quentin, Schaal, Jean-Vivien, Martinez, Thibault, Duron, Sandrine, Trousselard, Marion, Schwartzbrod, Pierre-Eric, Baugnon, Thomas, Dupic, Laurent, Gout, Caroline Duracher, De Saint Blanquat, Laure, Séguret, Sylvie, Le Ficher, Gaelle, Orliaguet, Gilles, Hubert, Philippe, Bigé, Naïke, Leblanc, Guillaume, Briand, Raphael, Brousse, Lucas, Brunet, Valentine, Chatelain, Léonard, Prat, Dominique, Jacobs, Frédéric, Demars, Nadège, Hamzaoui, Olfa, Moneger, Guy, Sztrymf, Benjamin, Duburcq-Gury, Emilie, Satre-Buisson, Léa, Duburcq, Thibault, Poissy, Julien, Robriquet, Laurent, Jourdain, Merce, Sécheresse, Thierry, Miquet, Mattéo, Simond, Alexis, Usseglio, Pascal, Hamdaoui, Yamina, Boussarsar, Mohamed, Desailly, Victoire, Brun, Patrick, Iglesias, Pauline, Huet, Jérémie, Masseran, Clémence, Claudon, Antoine, Ebeyer, Clément, Truong, Thomas, Tesnière, Antoine, Mignon, Alexandre, Gaudry, Stéphane, Resiere, Dabor, Valentino, Ruddy, Fabre, Julien, Roze, Benoit, Ferge, Jean-Louis, Charbatier, Cyrille, Marie, Sabia, Scholsser, Michel, Aitsatou, Signate, Raad, Mathieu, Cabie, Andre, Mehdaoui, Hossein, Cousin, Clement, Rousseau, Christophe, Llitjos, Jean-François, Alby-Laurent, Fanny, Toubiana, Julie, Belaidouni, Nadia, Cherruault, Marlène, Tamburini, Jérome, Bouscary, Didier, Fert, Sarah, Delile, Eugénie, Besnier, Emmanuel, Coquerel, David, Nevière, Rémi, Richard, Vincent, Tamion, Fabienne, Wei, Chaojie, Louis, Huguette, Margaux, Schmitt, Eliane, Albuisson, Sophie, Orlowski, Kimmoun, Antoine, Riad, Zakaria, Coroir, Marine, Rémy, Bernard, Camille, Bombled, Joffre, Jeremie, Aegerter, Philippe, Ilic, Dejan, Ginet, Marc, Pignard, Caroline, Nguyen, Philippe, Mourey, Guillaume, Samain, Emmanuel, Pili-Floury, Sebastien, Jouffroy, Romain, Nicolas, Caill, Alvarez, Jean-Claude, Tomasso, Maraffi, Philippe, Pascal, Raphalen, Jean-Herlé, Frédéric, J. Baud, Vivien, Benoit, Pierre, Carli, Baud, Frederic, Fredj, Hana, Blel, Youssef, Brahmi, Nozha, Ghezala, Hassen Ben, Hanak, Anne-Sophie, Malissin, Isabelle, Poupon, Joel, Risede, Patricia, Chevillard, Lucie, Megarbane, Bruno, Barghouth, Manel, M’rad, Aymen, Hmida, Marwa Ben, Thabet, Hafedh, Liang, Hao, Callebert, Jacques, Lagard, Camille, Megarbane, Bruno, Habacha, Sahar, Chatbri, Bassem, Camillerapp, Christophe, Labat, Laurence, Soichot, Marion, Garçon, Pierre, Goury, Antoine, Kerdjana, Lamia, Voicu, Sebastian, Deye, Nicolas, Megarbane, Bruno, Armel, Anwar, Anas, Benqqa, Othman, Mezgui, Moumine, S., Kalouch, S., Yakini, K. K., Chlilek, A., Hajji, Ahmed, Louati, Assaad, Khaldi, Ammar, Borgi, Aida, Ghali, Nargess, Bouziri, Asma, Menif, Khaled, Ben, Jaballah Najla, Armel, Anwar, Brochon, Jeanne, Dumitrescu, Mihaela, Thévenot, Sarah, Saulnier, Jean-Pascal, Husseini, Khaled, Laland, Catherine, Cremniter, Julie, Bousseau, Anne, Castel, Olivier, Brémaud-Csizmadia, Cassandra, Diss, Margot, Portefaix, Aurélie, Berthiller, Julien, Gillet, Yves, Aoul, Nabil Tabet, Douah, Ali, Addou, Zakaria, Youbi, Houari, Moussati, Mohamed, Belhabiche, Kamel, Mir, Souad, Abada, Sanaa, Amel, Zerhouni, Aouffen, Nabil, Bouzit, Zina, Grati, Ahmed H., Dhonneur, Gilles F., Boussarsar, Mohamed, Lau, Nicolas, Mezhari, Ilham, Roucaud, Nicolas, Le Meur, Matthieu, Paulet, Rémi, Coudray, Jean-Michel, Ghomari, Wahiba Imène, Boumlik, Reda, Peigne, Vincent, Daban, Jean-Louis, Boutonnet, Mathieu, Lenoir, Bernard, Yassine, Hafiani, Mohamed, Cheikh Chaigar, Khalid, Allali, Ihssan, Moussaid, Said, Elyoussoufi, Said, Salmi, Jazia, Amira Ben, Fatima, Jaziri, Wafa, Skouri, Maha, Bennasr, Khaoula, Ben Abdelghni, Sami, Turki, Abdallah Taeib, B., Medhioub, Fatma Kaaniche, Rollet-Cohen, Virginie, Sachs, Philippe, Merchaoui, Zied, Renolleau, Sylvain, Oualha, Mehdi, Eloi, Maxime, Jean, Sandrine, Demoulin, Maryne, Valentin, Cécile, Guilbert, Julia, Walti, Hervé, Carbajal, Ricardo, Leger, Pierre-Louis, Karaca-Altintas, Yasemin, Botte, Astrid, Labreuche, Julien, Drumez, Elodie, Devos, Patrick, Bour, Franck, Leclerc, Francis, Ahmed, Ayari, khaled, Menif, Louati, Assaad, Aida, Borgi, Ammar, Khaldi, Narjess, Ghali, Ahmed, Hajji, Asma, Bouziri, Jaballah, Nejla Ben, Leger, Pierre-Louis, Pansiot, Julien, Besson, Valérie, Palmier, Bruno, Baud, Olivier, Cauli, Bruno, Charriaut-Marlangue, Christiane, Mansuy, Amélie, Michel, Fabrice, Le Bel, Stéphane, Boubnova, Julia, Ughetto, Fabrice, Ovaert, Caroline, Fouilloux, Virginie, Paut, Olivier, Jacquet-Lagrèze, Matthias, Tiebergien, Nicolas, Hanna, Najib, Evain, Jean-Noël, Baudin, Florent, Courtil-Teyssedre, Sonia, Bompard, Dominique, Lilot, Marc, Chardonal, Laurent, Fellahi, Jean-Luc, Claverie, Claire, Pouessel, Guillaume, Dorkenoo, Aimée, Renaudin, Jean-Marie, Eb, Mireille, Deschildre, Antoine, Leteurtre, Stéphane, Yassine, Hafiani, Kamal, Belkadi, Adil, Oboukhlik, Ouafa, Aalalam, Mouhamed, Moussaoui, Rachid, Charkab, Lahoucine, Barrou, Dachraoui, Fahmi, Nakkaa, Sabrine, Zaineb, Hammouda, Mlika, Dorra, Gloulou, Olfa, Boussarsar, Mohamed, Zelmat, Setti-Aouicha, Batouche, Djamila-Djahida, Chaffi, Belkacem, Mazour, Fatima, Benatta, Nadia, Fathallah, Ines, Aloui, Rafaa, Zoubli, Aymen, Kouraichi, Nadia, Fathallah, Ines, Kouraichi, N., Salem, Shireen, Vicaut, Eric, Megarbane, Bruno, Ambroise, David, Loriot, Anne-Marie, Bourgogne, Emmanuel, Megarbane, Bruno, Ghadhoune, Hatem, Jihene, Guissouma, Trabelsi, Insaf, Allouche, Hend, Brahmi, Habib, Samet, Mohamed, Ghord, Hatem El, Lebeau, Rodolphe, Laplanche, Jean-Louis, Benturquia, Nadia, Megarbane, Bruno, Blel, Youssef, M’rad, A., Essafi, Fatma, Benabderrahim, A., Jouffroy, Romain, Resiere, Dabor, Sanchez, Bruno, Inamo, Jocelyn, Megarbane, Bruno, Batouche, Djamila-Djahida, Zerhouni, Amel, Tabeliouna, Kheira, Negadi, Amine, Mentouri, Zahia, Le Gall, Fanny, Hanouz, Jean-Luc, Normand, Hervé, Khoury, Abdo, Sall, Fatimata Seydou, De Luca, Alban, Pugin, Aurore, Pazart, Lionel, Vidal, Chrystelle, Leroux, Franck, Khoury, Abdo, L’Her, Erwan, Marjanovic, Nicolas, Khoury, Abdo, Desmettre, Thibault, Lambert, Christophe, Ragey, Sophie Perinel, Baboi, Loredana, Bazin, Jean-Etienne, Koffel, Catherine, Dhonneur, Gilles, Bouzit, Zina, Bradai, Larbi, Ayed, Issam Ben, Aissa, Fethi, Haouache, Hakim, Marechal, Yoann, Biston, Patrick, Piagnerelli, Michael, Bortolotti, Perrine, Colling, Delphine, Colas, Vincent, Voisin, Benoit, Dewavrin, Florent, Onimus, Thierry, Girardie, Patrick, Saulnier, Fabienne, Urbina, Tomas, Nguyen, Yann, Druoton, Anne-Lise, Soudant, Marc, Barraud, Damien, Conrad, Marie, Cravoisy-Popovic, Aurélie, Nace, Lionel, Bollaert, Pierre-Edouard, Martin, Ruste, Bitker, Laurent, Richard, Jean-Christophe, Brossier, David, Goyer, Isabelle, Marquis, Christopher, Lampin, Marie, Duhamel, Alain, Béhal, Hélène, Dhaoui, Tahar, Godeffroy, Véronique, Devouge, Eve, Evrard, Dominique, Delepoulle, Florence, Racoussot, Sylvie, Grandbastien, Bruno, Lampin, Marie, Heilbronner, Claire, Roy, Emeline, Masson, Alexandra, Hadchouel-Duvergé, Alice, Rigourd, Virginie, Delacroix, Elise, Wroblewski, Isabelle, Pin, Isabelle, Ego, Anne, Payen, Valerie, Debillon, Thierry, Millet, Anne, Denot, Julien, Berthelot, Véronique, Thueux, Emilie, Reymond, Marie, De Larrard, Alexandra, Amblard, Alain, Leger, Pierre-Louis, Aoul, Nabil Tabet, Lemiale, Virginie, Oziel, Johanna, Brule, Noelle, Moreau, Anne-Sophie, Marhbène, Takoua, Sellami, Salma, Jamoussi, Amira, Ayed, Samia, Mhiri, Emna, Slim, Leila, Khelil, Jalila Ben, Besbes, Mohamed, Chawki, Sylvain, Hamdi, Aicha, Ciroldi, Magali, Cottereau, Alice, Obadia, Edouard, Zerbib, Yoann, Andrejak, Claire, Ricome, Sylvie, Dupont, Hervé, Baudin, François, Dureau, Pauline, Tanguy, Audrey, Arbelot, Charlotte, Ben, Hassen Kais, Charfeddine, Ahmed, Granger, Benjamin, Laporte, Lucile, Hermetet, Coralie, Regaieg, Kais, Khemakhem, Rim, Chelly, Hedi, Cheikh, Chaigar Mohammed, Mountij, Hamid, Rghioui, Kawtar, Haddad, Wafae, Cherkab, Rachid, Barrou, Houcine, Naima, Aitmouden, bennani, Othmani M., Regaieg, Kais, Douib, Ahmed, Samet, Amal, Cungi, Pierre-Julien, Nguyen, Cédric, Cotte, Jean, D’aranda, Erwan, Meaudre, Eric, Avaro, Jean-Phillipe, Slaoui, Mohamed Taoufik, Mokline, Amel, Rahmani, Imene, Laajili, Achraf, Amri, Helmi, Gharsallah, Lazheri, Gasri, Bahija, Tlaili, Sofiene, Hammouda, Rym, Messadi, Amen Allah, Sudden Death Expertise Center, AKIKI Study Group, DO-RE-MI-FA Group, ENCEPHALITICA Study Group, for the HYPER2S Investigators and REVA Research Network, for the Purpura Fulminans Study Group, GFRUP RMEF, REVA ECMOnet, REA-RAISIN Study Group, for the EurêClark Study Group, and Groupe Communication et Simulation en Pédiatrie

Published
2017
Full Text
View/download PDF

32. Epidemiology of myasthenia gravis in France: A retrospective claims database study (STAMINA)

Author

Salort-Campana, E., Laforet, P., de Pouvourville, G., Crochard, A., Chollet, G., Nevoret, C., Emery, C., Bouée, S., and Tard, C.

Abstract

•We found a higher incidence and prevalence of MG are higher than previously reported in most European countries.•AChEIs are the most common treatment and more aggressive treatments (thymectomy, IVIg, azathioprine, plasma exchange, mycophenolate mofetil, cyclophosphamide, and rituximab) are mainly used the first year of the disease history.•Despite the availability of several treatments, patients with MG still experience exacerbations and crises and have an excess mortality compared to controls without MG, regardless of comorbidities.

Published
2024
Full Text
View/download PDF

36. Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

Author

M. Vecten, E. Pion, M. Bartoli, R. Juntas Morales, D. Sternberg, J. Rendu, T. Stojkovic, C. Acquaviva Bourdain, C. Métay, I. Richard, M. Cerino, M. Milh, S. Gorokhova, N. Levy, X. Latypova, G. Bonne, V. Biancalana, F. Petit, A. Molon, A. Perrin, P. Laforet, S. Attarian, M. Cossée, and M. Krahn

Abstract

The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more complex and responsible for long delays. It has been important to prioritize certain analyses, particularly those of “actionable” genes in diagnostic situations, involving specific treatment and/or management. In our project, we carried out an objective assessment of the clinical actionability of genes involved in myopathies, for which only few data obtained methodologically exist to date. Using the ClinGen Actionability criteria, we scored the clinical actionability of all 199 genes implicated in myopathies published by FILNEMUS for the “National French consensus on gene Lists for the diagnosis of myopathies using next generation sequencing”. We objectified that 63 myopathy genes were actionable with currently available data. Among the 36 myopathy genes with highest actionability scores, only 8 had been scored to date by ClinGen. The data obtained through these methodological tools are an important resource for strategic choices in diagnostic approaches and the management of genetic myopathies. The clinical actionability of genes has to be considered as an evolving concept, in relation to progresses in disease knowledge and therapeutic approaches.

Published
2022
Full Text
View/download PDF

37. Self-Efficacy of Preceptors in the Community: A Partnership between Service and Education.

Author

Laforet-Fliesser, Yvonne, Ward-Griffin, Catherine, and Beynon, Charlene

Abstract

Teams of nursing students worked in community settings under the supervision of community-based preceptors. Preceptors felt confident in providing student feedback, but less so in providing experiences congruent with course objectives. More partnerships between nursing faculty and preceptors are needed. (SK)

Published
1999

39. Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in becker muscular dystrophy

Author

L Motte, C Stalens, A Behin, R Ben Yaou, F Leturcq, G Bassez, P Laforet, B Fontaine, S Ederhy, M Masingue, M Saadi, S Leonard Louis, N Berber, D Duboc, and K Wahbi

Subjects
Cardiology and Cardiovascular Medicine
Abstract

Background The latest practice guidelines from the American College of Cardiology/American Heart Association recommend the prescription of an ACE-i for patients presenting with non-ischemic cardiomyopathy when left ventricular ejection fraction (LVEF) falls below 40%. Objective To determine if the initiation of treatment with an angiotensin-converting enzyme inhibitor (ACE-i) earlier than recommended by practice guidelines issued by professional societies improves the long-term cardiac outcomes of patients presenting with Becker muscular dystrophy (MD) cardiomyopathy. Methods From a multicenter registry of Becker MD, we selected retrospectively patients presenting between January 1990 and April 2019 with a LVEF ≥40 and ≤49%. We used a propensity score analysis to compare the risk of a) hospitalization for management of heart failure (HF), and b) a decrease in LVEF to Results From the 183 patients entered in our registry, we identified 85 whose LVEF was between 40 and 49%, 51 of whom received early and 34 received conventional ACE-i treatment. Among patients with early versus conventional treatments, 2 (3.9%) versus 4 (11.8%) were hospitalized for management of HF [hazard ratio (HR) 0.151; 95% confidence interval (CI) 0.028 to 0.822; p=0.029], and 9 (17.6%) versus 10 (29.4%) had a decrease in LVEF below 35% (HR 0.290; 95% CI 0.121 to 0.694; p=0.005). Conclusions The long-term cardiac outcome of patients presenting with Becker MD was significantly better when treatment with ACE-i was introduced after a decrease in LVEF below 50%, instead of below 40% as recommended in the current practice guidelines issued by professional societies. Funding Acknowledgement Type of funding sources: None. Study EndpointsCardiovascular events during follow-up

Published
2021
Full Text
View/download PDF

40. Nusinersen treatment in adults with severe spinal muscular atrophy: A real-life retrospective observational cohort study

Author

C. Lefeuvre, M. Brisset, M. Sarlon, N. Petit, D. Orlikowski, B. Clair, T. Thiry, R.-Y. Carlier, H. Prigent, G. Nicolas, D. Annane, P. Laforet, and S. Pouplin

Subjects
Adult, Muscular Atrophy, Spinal, Canada, Neurology, Oligonucleotides, Humans, Neurodegenerative Diseases, Neurology (clinical), Spinal Muscular Atrophies of Childhood, Retrospective Studies
Abstract

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease due to homozygous loss-of-function of the survival motor neuron gene SMN1 with absence of the functional SMN protein. Nusinersen, a costly intrathecally administered drug approved in 2017 in Europe, induces alternative splicing of the SMN2 gene, which then produces functional SMN protein, whose amount generally increases with the number of SMN2 gene copies.We retrospectively collected data from consecutive wheelchair-bound adults with SMA managed at a single center in 2018-2020. The following were collected at each injection, on days 1, 14, 28, 63, 183, and 303: 32-item Motor Function Measurement (MFM) total score and D2 and D3 subscores; the Canadian Occupational Performance Measure (COPM) performance and satisfaction scores; and lung function tests. The patients were divided into two groups based on whether their MFM total score wasor≥the mean (15.6%). Adverse events were recorded.We identified 18 patients who received 4 to 8 Nusinersen injections. No significant improvements occurred over time in any of the MFM scores or lung function test results, which did not differ between groups. The COPM performance score improved significantly from day 0 to day 303 in the high-MFM group and the COPM satisfaction score in the overall population from D0 to D183. Half the patients achieved the minimal clinically important difference for both COPM scores.The overall stability of conventional motor assessment in this population with advanced disabilities is encouraging to use more sensitive tools based on self-perception and autonomy in daily life activities, such as COPM. Our finding of a significant COPM performance score improvement from days 0 to 303 only in the patients with initial MFM-32 scores above the mean in the population suggests that the severity of the baseline disabilities may affect treatment efficacy.IV, retrospective observational cohort study.

Published
2021

42. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

Author

Michot, Caroline, Hubert, Laurence, Romero, Norma B., Gouda, Amr, Mamoune, Asmaa, Mathew, Suja, Kirk, Edwin, Viollet, Louis, Rahman, Shamima, Bekri, Soumeya, Peters, Heidi, McGill, James, Glamuzina, Emma, Farrar, Michelle, von der Hagen, Maya, Alexander, Ian E., Kirmse, Brian, Barth, Magalie, Laforet, Pascal, Benlian, Pascale, Munnich, Arnold, JeanPierre, Marc, Elpeleg, Orly, Pines, Ophry, Delahodde, Agnès, de Keyzer, Yves, and de Lonlay, Pascale

Published
2012
Full Text
View/download PDF

43. CLINICAL RESEARCH

Author

M. Schiava, C. Ikenaga, T. Stojkovic, M. Caballero, I. Nishino, C. Paradas, A. Alonso-Jimenez, A. Kostera-Pruszczyk, F. Miralles Morell, J. De Bleecker, C. Domínguez-Gonzalez, G. Papadimas, K. Claeys, P. Laforet, A. Toscano, E. Pál, M. Farrugia, G. Tasca, C. Weihl, and J. Diaz Manera

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021
Full Text
View/download PDF

44. POMPE DISEASE

Author

B. Schoser, D. Bratkovic, B. Byrne, J. Díaz-Manera, P. Laforet, T. Mozaffar, A. van der Ploeg, M. Roberts, A. Toscano, H. Jiang, S. Sitaraman, S. Kuchipudi, M. Goldman, J. Castelli, and P. Kishnani

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021
Full Text
View/download PDF

45. Quels critères d’évaluation sensibles au changement pour le suivi de la motricité de patients atteints de la maladie de Pompe. Un projet soutenu par la SFP 2023

Author

Maulet, Théo, Bonnyaud, Céline, Dubois, Fabien, Roche, Nicolas, Younes, Nawal Derridj-Ait, Amthor, Helge, Cattagni, Thomas, and Laforet, Pascal

Abstract

Les adultes atteints de la maladie de Pompe (aLOPD) présentent des altérations progressives de la force musculaire, de la marche et du contrôle postural [1]. À ce jour, les connaissances de ces dégradations restent limitées du fait de l’utilisation d’évaluations trop peu sensibles [2]. Analyser l’évolution de ces critères avec des évaluations de références permettrait de quantifier le déclin et d’identifier des biomarqueurs sensibles au changement, à cibler particulièrement en évaluation, nécessaires à la rééducation et à l’évaluation des futures thérapeutiques [2]. Cette étude vise à étudier l’évolution sur 2 ans de la force musculaire et des fonctions locomotrices et posturales d’aLOPD comparativement à une population témoin et à établir les seuils de changement minimum cliniquement pertinent (MCID).

Published
2025
Full Text
View/download PDF

47. Knowledge of Human Papillomavirus and Cervical Cancer Among Low-Income Women in New Jersey

Author

Silvera, Stephanie A. Navarro, Kaplan, Alejandra M., and Laforet, Priscila

Abstract

Objectives: Although much research has been conducted on knowledge and awareness of the connection between human papillomavirus (HPV) and cervical cancer risk among university students, few studies have examined these associations among low-income populations. We examined knowledge of HPV and cervical cancer risk among racially and ethnically diverse low-income women.Methods: We used a cross-sectional study design to recruit and interview 476 low-income women in New Jersey from November 1, 2013, through February 28, 2016. We used multivariate logistic regression to determine whether knowledge of HPV and its association with cervical cancer risk differed by race and ethnicity.Results: Compared with non-Hispanic White women, Hispanic (odds ratio [OR] = 0.37; 95% CI, 0.18-0.77) and non-Hispanic Black (OR = 0.38; 95% CI, 0.19-0.77) women were significantly less likely to report having heard of HPV. Of women who had ever heard of HPV (n = 323), non-Hispanic Black women were significantly less likely (OR = 0.44; 95% CI, 0.21-0.89) than non-Hispanic White women to report knowing that HPV can be associated with cervical cancer.Conclusions: Given the higher rates of HPV infection among non-Hispanic Black and Hispanic women, these results suggest a need to improve education about risks of HPV among low-income populations. These messages need to include information on the connection between HPV and cervical cancer and must be provided in culturally and linguistically appropriate ways.

Published
2023
Full Text
View/download PDF

48. Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers

Author

Maulet, Théo, Cattagni, Thomas, Dubois, Fabien, Roche, Nicolas, Laforet, Pascal, and Bonnyaud, Céline

Abstract

The late-onset form of Pompe disease (LOPD) is characterized by muscle weakness, locomotor limitations and a risk of falls. The mechanisms responsible for altered locomotion in adults with LOPD are unknown. The identification of clinical biomarkers is essential for clinical follow-up and research. To identify muscle determinants of impaired locomotor performance, gait stability and gait pattern, and biomechanical determinants of falls in adults with LOPD. In this cross-sectional, case-control study, LOPD and control participants underwent 3D gait analysis, locomotor performance tests and muscle strength measurements (isokinetic dynamometer). We explored the muscular determinants of locomotor performance (gait speed, 6-minute walk test distance and timed up and go test), gait stability (spatiotemporal gait variables) and the gait pattern. We also explored biomechanical gait determinants of falls. After intergroup comparisons, determinants were sought to use forward stepwise multiple regression. Eighteen participants with LOPD and 20 control participants were included. Locomotor performance, gait stability, and the gait pattern were significantly altered in LOPD compared to control participants. Hip abductor strength was the main common determinant of locomotor performance, gait stability and pelvic instability. Hip flexor strength was the main determinant of abnormal gait kinematics at the hip and knee. Percentage duration of single support phase during the gait cycle was the main determinant of falls. Hip abductor strength and percentage duration of single support during gait were the major determinants of locomotor performance, gait stability, falls and the gait pattern in LOPD. These new clinical biomarkers should therefore be systematically assessed using instrumented tools to improve the follow-up of adults with LOPD. They should also be considered in future studies to accurately assess the effects of new therapies. Hip abductor strength and single support phase should also be priority targets for rehabilitation.

Published
2023
Full Text
View/download PDF

49. OTHER NMDs

Author

E. Lacene, A. Chanut, T. Stojkovic, P. Laforet, C. Metay, I. Nelson, G. Brochier, C. Labasse, A. Madelaine, N. Romero, and T. Evangelista

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results