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1. FHL1 is a key player of chikungunya virus tropism and pathogenesis

Author

Meertens, Laurent, Hafirassou, Mohamed Lamine, Couderc, Thérèse, Bonnet-Madin, Lucie, Kril, Vasiliya, Kümmerer, Beate M., Labeau, Athena, Brugier, Alexis, Simon-Loriere, Etienne, Burlaud-Gaillard, Julien, Doyen, Cécile, Pezzi, Laura, Goupil, Thibaud, Rafasse, Sophia, Vidalain, Pierre-Olivier, Legout, Anne Bertrand, Gueneau, Lucie, Juntas-Morales, Raul, Yaou, Rabah Ben, Bonne, Gisèle, de Lamballerie, Xavier, Benkirane, Monsef, Roingeard, Philippe, Delaugerre, Constance, Lecuit, Marc, and Amara, Ali

Subjects
Chikungunya, Four and a Half LIM domains 1 Tropism, Pathogenesis, Virus infection, Biology (General), QH301-705.5
Abstract

Chikungunya is an infectious disease caused by the chikungunya virus (CHIKV), an alphavirus transmitted to humans by Aedes mosquitoes, and for which there is no licensed vaccine nor antiviral treatments. By using a loss-of-function genetic screen, we have recently identified the FHL1 protein as an essential host factor for CHIKV tropism and pathogenesis. FHL1 is highly expressed in muscles cells and fibroblasts, the main CHIKV-target cells. FHL1 interacts with the viral protein nsP3 and plays a critical role in CHIKV genome amplification. Experiments in vivo performed in FHL1-deficient mice have shown that these animals are resistant to infection and do not develop muscular lesions. Altogether these observations, published in the journal Nature [1], show that FHL1 is a key host factor for CHIKV pathogenesis and identify the interaction between FHL1 and nsP3 as a promising target for the development of new antiviral strategies.

Published
2021
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3. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author

Genge, Angela, Massie, Rami, Berube, Maxime, Bril, Vera, Daniyal, Lubna, Mannan, Shabber, Ng, Eduardo, Raman, Ritesh Rohan Raghu, Sarpong, Evelyn, Alcantara, Monica, Dionne, Annie, Siddiqi, Zaeem, Blackmore, Derrick, Hussain, Faraz, Matte, Genevieve, Botez, Stephan, Tyblova, Michaela, Jakubikova, Michala, Junkerova, Jana, Vissing, John, Witting, Nanna, Holm-Yildiz, Sonja, Stemmerik, Mads, Andersen, Henning, Obál, Izabella, Solé, Guilhem, Mathis, Stéphane, Violleau, Marie-Hélène, Tranchant, Christine, Messai, Sihame, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Verloes, Arnaud, Zaidi, Leila, Sacconi, Sabrina, Gambella, Manuela, Cavalli, Michele, Stojkovic, Tanya, Demeret, Sophie, Le Guennec, Loic, Querin, Giorgia, Weiss, Nicolas, Masingue, Marion, Magy, Laurent, Ghorab, Karima, Rukhadze, Ia, Tsiskaridze, Alexander, Janelidze, Marina, Margania, Temur, Then Bergh, Florian, Hänsel, Eike, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Teußer, Lars-Malte, Unterlauft, Astrid, Goedel, Clemens, Hagenacker, Tim, Totzeck, Andreas, Stolte, Benjamin, Blaes, Franz, Bindler, Christine, Tsoutsikas, Vasilios, Roediger, Annekathrin, Geis, Christian, Schmidt, Jens, Zschüntzsch, Jana, Schwarz, Margret, Meyer, Stefanie, Kummer, Karsten, Glaubitz, Stefanie, Zeng, Rachel, Wiendl, Heinz, Klotz, Luisa, Lammerskitten, Anna, Lünemann, Jan, Diószeghy, Péter, Mantegazza, Renato, Maggi, Lorenzo, Rinaldi, Elena, Gastaldi, Matteo, Mazzacane, Federico, Businaro, Pietro, Iorio, Raffaele, Antonini, Giovanni, Fionda, Laura, Rinaldi, Rita, Rossi, Simone, Habetswallner, Francesco, Tuccillo, Francesco, Umehara, Haruna, Uenaka, Eiko, Takahashi, Masanori, Higashi, Keiko, Kinoshita, Makoto, Yoneda, Emika, Nakamura, Noriko, Fujita, Saeka, Kubota, Tomoya, Ono, Masami, Yamamoto, Sana, Hatano, Taku, Oikoshi, Kazuki, Yokoyama, Kazumasa, Oji, Yutaka, Tomizawa, Yuji, Uzawa, Akiyuki, Yasuda, Manato, Akita, Sachiko, Ozawa, Yukiko, Onishi, Yosuke, Takaki, Miki, Yamada, Hiromi, Minemoto, Kanako, Sanko, Miki, Izawa, Nanae, Nakayama, Mayumi, Masuda, Masayuki, Tsuji, Rune, Ido, Nobuhiro, Hyodo, Yumi, Okubo, Yoshihiko, Minohara, Akiko, Haraguchi, Nana, Naito, Makiko, Yoshida, Seiko, Fukushige, Yuri, Tsujino, Akira, Nagaoka, Atsushi, Miyazaki, Teiichiro, Yoshimura, Shunsuke, Hirayama, Takuro, Shima, Tomoaki, Okamoto, Naoko, Matsumoto, Riki, Sekiguchi, Kenji, Ueda, Takehiro, Chihara, Norio, Kirimura, Mari, Sunagawa, Emi, Suzuki, Ayaka, Suzuki, Shigeaki, Wada, Aozora, Ishizuchi, Kei, Suzuki, Yasushi, Yata, Mitsuo, Komatsu, Yuka, Tsukita, Kenichi, Watanabe, Genya, Sato, Kazuki, Kawasaki, Emiko, Yamamoto, Naoki, Ono, Hirohiko, Tsuda, Tomoko, Ohashi, Shigeki, Utsugisawa, Kimiaki, Fujisawa, Yuka, Yokota, Yumiko, Nagane, Yuriko, Ayumi, Kameda, Takematsu, Yuka, Naito, Hiroyuki, Sugimoto, Takamichi, Kuwada, Kumiko, Rejdak, Konrad, Szklener, Sebastian, Kitowska, Monika, Derkacz, Kandyda, Druzdz, Artur, Berkowicz, Tomasz, Budzinska, Paulina, Halas, Marek, Zaslavskiy, Leonid, Skornyakova, Evgeniya, Kotov, Sergey, Novikova, Ekaterina, Sidorova, Olga, Goldobin, Vitalii, Alekseeva, Tatiana, Isabekova, Patimat, Malkova, Nadezhda, Korobko, Denis, Djordjevic, Gordana, Stojanov, Aleksandar, Peric, Stojan, Lavrnic, Dragana, Bozovic, Ivo, Palibrk, Aleksa, Casasnovas, Carlos, Nedkova-Hristova, Velina, Vidal Fernández, Nuria, Cortés Vicente, Elena, Querol Gutiérrez, Luis, Salvadó Figueras, Maria, Canovas Segura, Anna, Juntas Morales, Raúl, Sanchez Tejerina, Daniel, Saiz, Albert, Blanco Morgado, Yolanda, Llufriú Durán, Sara, Sepúlveda Gázquez, María, Martínez Hernández, Eugenia María, Gutiérrez Gutiérrez, Gerardo, Iniesta, Paqui, Meca Lallana, José, Guo, Yuh-Cherng, Chiu, Hou-Chang, Yeh, Jiann-Horng, Chen, Ya Hui, Lee, Mei Fen, Lee, Yi-Chung, Lai, Kuan Lin, Beydoun, Said, Akhter, Salma, Vu, Tuan, Lam, Lucy, Thomas, Alisha, Rivner, Michael, Quarles, Brandy, Lange, Dale, Holzberg, Shara, Pavlakis, Pantelis, Goutham, Ashwathy, Kaminski, Henry, Aly, Radwa, Ashworth, Lisa, Bender, Kathryn, Bond, Karie, Buckner, Joanne, Byerly, Sara, Caress, James, Clemons, Jessyca, Farmer, Asha, Franklin, Catherine, Harris, Summer, Hiatt, Meredith, Gandhi Mehta, Rachana, Miller, Gina, Smith, Lynn, Smith, Rose, Strittmatter, Brian, Mozaffar, Tahseen, Habib, Ali A, Hernandez, Isela, Moulton, Kelsey, Karam, Chafic, Ravikumar, Pranali, Lomen-Hoerth, Catherine, Rosow, Laura, George, Hannah, Irodenko, Viktoriya, Kang, Min, Denny, Carol, Hanson, Bart, Klein, Sara, Martinez-Thompson, Jennifer, Naddaf, Elie, Padgett, Denny, Sorenson, Eric, L Sultze, Jane, Weis, Delena, Rezania, Kourosh, Thonhoff, Jason, Shroff, Sheetal, Pascuzzi, Robert, Micheels, Angela, Bodkin, Cynthia, Comer, Adam, Baras, Gelasio, Wagner, Renee, Mahuwala, Zabeen, Ryan, Stephen, Su, Kai, Sharma, Khema, Brown, Andrew, Liow, Kore, Drużdż, Artur, Grosskreutz, Julian, Boehnlein, Marion, Bozorg, Ali, Gayfieva, Maryam, Greve, Bernhard, Woltering, Franz, and Kaminski, Henry J

Published
2023
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4. Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

Author

Sembinelli, Dylan, Teitelbaum, Jeanne, Nicolle, Michael, Bernard, Emilien, Svahn, Juliette, Spinazzi, Marco, Stojkovic, Tanya, Demeret, Sophie, Weiss, Nicolas, Le Guennec, Loïc, Messai, Sihame, Tranchant, Christine, Nadaj-Pakleza, Aleksandra, Chanson, Jean-Baptiste, Suliman, Muhtadi, Zaidi, Leila, Tard, Celine, Lecointe, Peggy, Zschüntzsch, Jana, Schmidt, Jens, Glaubitz, Stefanie, Zeng, Rachel, Scholl, Matthias, Kowarik, Markus, Ziemann, Ulf, Krumbholz, Markus, Martin, Pascal, Ruschil, Christoph, Dünschede, Jutta, Kemmner, Roswitha, Rumpel, Natalie, Berger, Benjamin, Totzeck, Andreas, Hagenacker, Tim, Stolte, Benjamin, Iorio, Raffaele, Evoli, Amelia, Falso, Silvia, Antozzi, Carlo, Frangiamore, Rita, Vanoli, Fiammetta, Rinaldi, Elena, Deguchi, Kazushi, Minami, Naoya, Nagane, Yuriko, Suzuki, Yasushi, Ishida, Sayaka, Suzuki, Shigeaki, Nakahara, Jin, Nagaoka, Astushi, Yoshimura, Shunsuke, Konno, Shingo, Tsuya, Youko, Uzawa, Akiyuki, Kubota, Tomoya, Takahashi, Masanori, Okuno, Tatsusada, Murai, Hiroyuki, Gilhus, Nils Erik, Boldingh, Marion, Rønning, Tone Hakvåg, Chyrchel-Paszkiewicz, Urszula, Kumor, Klaudiusz, Zielinski, Tomasz, Banaszkiewicz, Krzysztof, Błaż, Michał, Kłósek, Agata, Świderek-Matysiak, Mariola, Szczudlik, Andrzej, Paśko, Aneta, Szczechowski, Lech, Banach, Marta, Ilkowski, Jan, Kapetanovic Garcia, Solange, Ortiz Bagan, Patricia, Belén Cánovas Segura, Ana, Turon Sans, Joana, Vidal Fernandez, Nuria, Cortes Vicente, Elena, Rodrigo Armenteros, Patricia, Ashraghi, Mohammad, Cavey, Ana, Haslam, Liam, Emery, Anna, Liow, Kore, Yegiaian, Sharon, Barboi, Alexandru, Vazquez, Rosa Maria, Lennon, Joshua, Pascuzzi, Robert M, Bodkin, Cynthia, Guingrich, Sandra, Comer, Adam, Bromberg, Mark, Janecki, Teresa, Saba, Sami, Tellez, Marco, Elsheikh, Bakri, Freimer, Miriam, Heintzman, Sarah, Govindarajan, Raghav, Guptill, Jeffrey, Massey, Janice M, Juel, Vern, Gonzalez, Natalia, Habib, Ali A, Mozaffar, Tahseen, Korb, Manisha, Goyal, Namita, Machemehl, Hannah, Manousakis, Georgios, Allen, Jeffrey, Harper, Emily, Farmakidis, Constantine, Saavedra, Lilli, Dimachkie, Mazen, Pasnoor, Mamatha, Akhter, Salma, Beydoun, Said, McIlduff, Courtney, Nye, Joan, Roy, Bhaskar, Munro Sheldon, Bailey, Nowak, Richard, Barnes, Benjamin, Rivner, Michael, Suresh, Niraja, Shaw, Jessica, Harvey, Brittany, Lam, Lucy, Thomas, Nikki, Chopra, Manisha, Traub, Rebecca E, Jones, Sarah, Wagoner, Mary, Smajic, Sejla, Aly, Radwa, Katz, Jonathan, Chen, Henry, Miller, Robert G, Jenkins, Liberty, Khan, Shaida, Khatri, Bhupendra, Sershon, Lisa, Pavlakis, Pantelis, Holzberg, Shara, Li, Yuebing, Caristo, Irys B, Marquardt, Robert, Hastings, Debbie, Rube, Jacob, Lisak, Robert P, Choudhury, Aparna, Ruzhansky, Katherine, Sachdev, Amit, Shin, Susan, Bratton, Joan, Fetter, Mary, McKinnon, Naya, McKinnon, Jonathan, Sissons-Ross, Laura, Sahu, Amos, Distad, B Jane, Howard, James F, Jr, Bresch, Saskia, Genge, Angela, Hewamadduma, Channa, Hinton, John, Hussain, Yessar, Juntas-Morales, Raul, Kaminski, Henry J, Maniaol, Angelina, Mantegazza, Renato, Masuda, Masayuki, Sivakumar, Kumaraswamy, Śmiłowski, Marek, Utsugisawa, Kimiaki, Vu, Tuan, Weiss, Michael D, Zajda, Małgorzata, Boroojerdi, Babak, Brock, Melissa, de la Borderie, Guillemette, Duda, Petra W, Lowcock, Romana, Vanderkelen, Mark, and Leite, M Isabel

Published
2023
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5. Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)

Author

Rochat, Julie, primary, Blavier, André, additional, Ruet, Séverine, additional, Vasseur, Sophie, additional, Puma, Angela, additional, Desnous, Béatrice, additional, Chan, Victor, additional, Delmont, Emilien, additional, Attarian, Shahram, additional, Juntas Morales, Raul, additional, Quadrio, Isabelle, additional, Vidoni, Léo, additional, Bonello-Palot, Nathalie, additional, and Cheillan, David, additional

Published
2024
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6. The Hexokinase 1 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering

Author

Ceprian, Maria, primary, Juntas-Morales, Raul, additional, Campbell, Graham, additional, Walther-Louvier, Ulrike, additional, Rivier, François, additional, Camu, William, additional, Esselin, Florence, additional, Echaniz-Laguna, Andoni, additional, Stojkovic, Tanya, additional, Bouhour, Françoise, additional, Latour, Philippe, additional, and Tricaud, Nicolas, additional

Published
2024
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7. Gait Assessment in Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Author

Llauradó, Arnau, primary, Quintana, Manuel, additional, Gratacós-Viñola, Margarita, additional, Vidal-Taboada, Jose Manuel, additional, Restrepo-Vera, Juan Luis, additional, Alemañ, José, additional, López-Diego, Verónica, additional, Salvadó, Maria, additional, Sanchez-Tejerina, Daniel, additional, Sotoca, Javier, additional, Raguer, Núria, additional, and Juntas-Morales, Raul, additional

Published
2024
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8. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Author

Sanson, Benoît, Stalens, Caroline, Guien, Céline, Villa, Luisa, Eng, Catherine, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Cintas, Pascal, Solé, Guilhem, Tiffreau, Vincent, Echaniz-Laguna, Andoni, Magot, Armelle, Juntas Morales, Raul, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Jacquin-Piques, Agnès, Béroud, Christophe, and Sacconi, Sabrina

Published
2022
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9. Long-term safety and efficacy of zilucoplan in patients with generalized myasthenia gravis: interim analysis of the RAISE-XT open-label extension study.

Author

Howard Jr, James F., Bresch, Saskia, Farmakidis, Constantine, Freimer, Miriam, Genge, Angela, Hewamadduma, Channa, Hinton, John, Hussain, Yessar, Juntas-Morales, Raul, Kaminski, Henry J., Maniaol, Angelina, Mantegazza, Renato, Masuda, Masayuki, Nowak, Richard J., Sivakumar, Kumaraswamy, Śmiłowski, Marek, Utsugisawa, Kimiaki, Vu, Tuan, Weiss, Michael D., and Zajda, Małgorzata

Subjects
MYASTHENIA gravis, DRUG efficacy, CHOLINERGIC receptors, CLINICAL trials, AUTOANTIBODIES
Abstract

Background: Generalized myasthenia gravis (gMG) is a chronic, unpredictable disease associated with high treatment and disease burdens, with a need for more effective and well-tolerated treatments. Objectives: To evaluate the long-term safety, tolerability, and efficacy of zilucoplan in a mild-to-severe, acetylcholine receptor autoantibody-positive (AChR+) gMG population. Design: Ongoing, multicenter, phase III open-label extension (OLE) study. Methods: Eligible patients had completed a qualifying randomized, placebo-controlled phase II or phase III zilucoplan study and received daily, self-administered subcutaneous 0.3 mg/kg zilucoplan. The primary endpoint was incidence of treatment-emergent adverse events (TEAEs). Secondary efficacy endpoints included change from baseline in Myasthenia Gravis Activities of Daily Living (MG-ADL) score. Results: In total, 200 patients enrolled. At the cut-off date (8 September 2022), median (range) exposure to zilucoplan in RAISE-XT was 1.2 (0.11–4.45) years. Mean age at OLE baseline was 53.3 years. A total of 188 (94%) patients experienced a TEAE, with the most common being MG worsening (n = 52, 26%) and COVID-19 (n = 49, 25%). In patients who received zilucoplan 0.3 mg/kg in the parent study, further improvements in MG-ADL score continued through to Week 24 (least squares mean change [95% confidence interval] from double-blind baseline −6.06 [−7.09, −5.03]) and were sustained through to Week 60 (−6.04 [−7.21, −4.87]). In patients who switched from placebo in the parent study, rapid improvements in MG-ADL score were observed at the first week after switching to zilucoplan; further improvements were observed at Week 24, 12 weeks after switching (−6.46 [−8.19, −4.72]), and were sustained through to Week 60 (−6.51 [−8.37, −4.65]). Consistent results were observed in other efficacy endpoints. Conclusion: Zilucoplan demonstrated a favorable long-term safety profile, good tolerability, and sustained efficacy through to Week 60 with consistent benefits in a broad AChR+ gMG population. Additional long-term data will be available in future analyses. Trial registration: ClinicalTrials.gov identifier: NCT04225871 (https://clinicaltrials.gov/ct2/show/NCT04225871) [ABSTRACT FROM AUTHOR]

Published
2024
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10. Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera

Author

Delmont, Emilien, Brodovitch, Alexandre, Kouton, Ludivine, Allou, Thibaut, Beltran, Stéphane, Brisset, Marion, Camdessanché, Jean Philippe, Cauquil, Cécile, Cirion, Jonathan, Dubard, Thierry, Echaniz-Laguna, Andoni, Grapperon, Aude-Marie, Jauffret, Joëlle, Juntas-Morales, Raul, Kremer, Laurent Daniel, Kuntzer, Thierry, Labeyrie, Céline, Lanfranco, Lucas, Maisonobe, Thierry, Mavroudakis, Nicolas, Mecharles-Darrigol, Sylvie, Nicolas, Guillaume, Noury, Jean-Baptiste, Perie, Maud, Rajabally, Yusuf A., Remiche, Gauthier, Rouaud, Violaine, Tard, Céline, Salort-Campana, Emmanuelle, Verschueren, Annie, Viala, Karine, Wang, Adrien, Attarian, Shahram, and Boucraut, José

Published
2020
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11. Electrophysiological features of chronic inflammatory demyelinating polyradiculoneuropathy associated with IgG4 antibodies targeting neurofascin 155 or contactin 1 glycoproteins

Author

Kouton, Ludivine, Boucraut, José, Devaux, Jérome, Rajabally, Yusuf A., Adams, David, Antoine, Jean Christophe, Bourdain, Frédéric, Brodovitch, Alexandre, Camdessanché, Jean-Philippe, Cauquil, Cécile, Ciron, Jonathan, Dubard, Thierry, Echaniz-Laguna, Andoni, Grapperon, Aude-Marie, Juntas-Morales, Raul, Kremer, Laurent, Kuntzer, Thierry, Labeyrie, Céline, Lanfranco, Luca, Léger, Jean-Marc, Maisonobe, Thierry, Mavroudakis, Nicolas, Mecharles-Darrigol, Sylvie, Merle, Philippe, Noury, Jean-Baptiste, Rouaud, Violaine, Tard, Céline, Théaudin, Marie, Vallat, Jean-Michel, Viala, Karine, Attarian, Shahram, and Delmont, Emilien

Published
2020
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13. HeterozygousSPTLC1p.Leu39del is a major cause of slow-progressing juvenile ALS

Author

Guissart, Claire, primary, De la Cruz, Elisa, additional, Flabeau, Olivier, additional, Grapperon, Aude-Marie, additional, Corazza, Giovanni, additional, Junilhon, Lucie, additional, Delmas, Jean-Charles, additional, Millecamps, Stéphanie, additional, Polge, Anne, additional, Amador, Maria del Mar, additional, Salachas, Francois, additional, Rochat, Julie, additional, Goizet, Cyril, additional, Juntas Morales, Raul, additional, Lumbroso, Serge, additional, Philibert, Pascal, additional, Cheillan, David, additional, and Mouzat, Kevin, additional

Published
2023
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14. FHL1 is a major host factor for chikungunya virus infection

Author

Meertens, Laurent, Hafirassou, Mohamed Lamine, Couderc, Thérèse, Bonnet-Madin, Lucie, Kril, Vasiliya, Kümmerer, Beate M., Labeau, Athena, Brugier, Alexis, Simon-Loriere, Etienne, Burlaud-Gaillard, Julien, Doyen, Cécile, Pezzi, Laura, Goupil, Thibaud, Rafasse, Sophia, Vidalain, Pierre-Olivier, Bertrand-Legout, Anne, Gueneau, Lucie, Juntas-Morales, Raul, Ben Yaou, Rabah, Bonne, Gisèle, de Lamballerie, Xavier, Benkirane, Monsef, Roingeard, Philippe, Delaugerre, Constance, Lecuit, Marc, and Amara, Ali

Published
2019
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15. LRSAM1 variants 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

Published
2019
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17. Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy

Author

Schiava, Marianela, primary, Ikenaga, Chiseko, additional, Topf, Ana, additional, Caballero-Ávila, Marta, additional, Chou, Tsui-Fen, additional, Li, Shan, additional, Wang, Feng, additional, Daw, Jil, additional, Stojkovic, Tanya, additional, Villar-Quiles, Rocio, additional, Nishino, Ichizo, additional, Inoue, Michio, additional, Nishimori, Yukako, additional, Saito, Yoshihiko, additional, Katsuno, Masahisa, additional, Noda, Seiya, additional, Ito, Chihiro, additional, Otsuka, Mieko, additional, Nahir, Sruthi, additional, Manousakis, Georgios, additional, Walk, David, additional, Quinn, Colin, additional, Alfano, Lindsay, additional, Sahenk, Zarife, additional, Tasca, Giorgio, additional, Monforte, Mauro, additional, Sabatelli, Mario, additional, Bisogni, Giulia, additional, Oldfors, Anders, additional, Rydeliu, Anna, additional, Pal, Endre, additional, Paradas, Carmen, additional, Velez, Beatriz, additional, De Bleecker, Jan L., additional, Farugia, Maria Elena, additional, Longman, Cheryl, additional, Harms, Matthew B., additional, Ralston, Stuart, additional, Zanoteli, Edmar, additional, Macedo Serafim da Silva, Andre, additional, Sotoca, Javier, additional, Juntas-Morales, Raul, additional, Bevilacqua, Jorge, additional, Balart, Mireya, additional, Talbot, Stuart, additional, Straub, Volker, additional, Guglieri, Michela, additional, Marini-Bettolo, Chiara, additional, Diaz-Manera, Jordi, additional, and Weihl, Conrad Chris, additional

Published
2023
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18. Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres

Author

Neuwirth, Christoph, Braun, Nathalie, Claeys, Kristl G., Bucelli, Robert, Fournier, Christina, Bromberg, Mark, Petri, Susanne, Goedee, Stephan, Lenglet, Timothée, Leppanen, Ron, Canosa, Antonio, Goodman, Ira, Al-Lozi, Muhammad, Ohkubo, Takuya, Hübers, Annemarie, Atassi, Nazem, Abrahao, Agessandro, Funke, Andreas, Appelfeller, Martin, Tümmler, Anke, Finegan, Eoin, Glass, Jonathan D., Babu, Suma, Ladha, Shafeeq S., Kwast-Rabben, Olga, Juntas-Morales, Raul, Coffey, Amina, Chaudhry, Vinay, Vu, Tuan, Saephanh, Chow, Newhard, Colleen, Zakrzewski, Marion, Rosier, Esther, Hamel, Nancy, Raheja, Divisha, Raaijman, Jesper, Ferguson, Toby, and Weber, Markus

Published
2018
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19. Heterozygous SPTLC1 p.Leu39del is a major cause of slow- progressing juvenile ALS.

Author

Guissart, Claire, De la Cruz, Elisa, Flabeau, Olivier, Grapperon, Aude-Marie, Corazza, Giovanni, Junilhon, Lucie, Delmas, Jean- Charles, Millecamps, Stéphanie, Polge, Anne, Amador, Maria del Mar, Salachas, Francois, Rochat, Julie, Goizet, Cyril, Juntas Morales, Raul, Lumbroso, Serge, Philibert, Pascal, Cheillan, David, and Mouzat, Kevin

Subjects
MOTOR neuron diseases, AMYOTROPHIC lateral sclerosis, LIQUID chromatography-mass spectrometry
Abstract

This article presents a study on juvenile amyotrophic lateral sclerosis (JALS), a rare motor neuron disease that affects individuals under 25 years old. The study focuses on the SPTLC1 gene, which has been linked to JALS. Researchers identified a specific mutation in the SPTLC1 gene, known as p.Leu39del, and found that it is a major cause of JALS. The study also explores the lipid profile of patients with this mutation and suggests that lipid dysmetabolism could be used as biomarkers and therapeutic targets for JALS. The research provides important insights for the genetic diagnosis of JALS and highlights the need for further investigation into SPTLC1 mutations. [Extracted from the article]

Published
2024
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20. Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

Author

Howard, James F, primary, Bresch, Saskia, additional, Genge, Angela, additional, Hewamadduma, Channa, additional, Hinton, John, additional, Hussain, Yessar, additional, Juntas-Morales, Raul, additional, Kaminski, Henry J, additional, Maniaol, Angelina, additional, Mantegazza, Renato, additional, Masuda, Masayuki, additional, Sivakumar, Kumaraswamy, additional, Śmiłowski, Marek, additional, Utsugisawa, Kimiaki, additional, Vu, Tuan, additional, Weiss, Michael D, additional, Zajda, Małgorzata, additional, Boroojerdi, Babak, additional, Brock, Melissa, additional, de la Borderie, Guillemette, additional, Duda, Petra W, additional, Lowcock, Romana, additional, Vanderkelen, Mark, additional, Leite, M Isabel, additional, Sembinelli, Dylan, additional, Teitelbaum, Jeanne, additional, Nicolle, Michael, additional, Bernard, Emilien, additional, Svahn, Juliette, additional, Spinazzi, Marco, additional, Stojkovic, Tanya, additional, Demeret, Sophie, additional, Weiss, Nicolas, additional, Le Guennec, Loïc, additional, Messai, Sihame, additional, Tranchant, Christine, additional, Nadaj-Pakleza, Aleksandra, additional, Chanson, Jean-Baptiste, additional, Suliman, Muhtadi, additional, Zaidi, Leila, additional, Tard, Celine, additional, Lecointe, Peggy, additional, Zschüntzsch, Jana, additional, Schmidt, Jens, additional, Glaubitz, Stefanie, additional, Zeng, Rachel, additional, Scholl, Matthias, additional, Kowarik, Markus, additional, Ziemann, Ulf, additional, Krumbholz, Markus, additional, Martin, Pascal, additional, Ruschil, Christoph, additional, Dünschede, Jutta, additional, Kemmner, Roswitha, additional, Rumpel, Natalie, additional, Berger, Benjamin, additional, Totzeck, Andreas, additional, Hagenacker, Tim, additional, Stolte, Benjamin, additional, Iorio, Raffaele, additional, Evoli, Amelia, additional, Falso, Silvia, additional, Antozzi, Carlo, additional, Frangiamore, Rita, additional, Vanoli, Fiammetta, additional, Rinaldi, Elena, additional, Deguchi, Kazushi, additional, Minami, Naoya, additional, Nagane, Yuriko, additional, Suzuki, Yasushi, additional, Ishida, Sayaka, additional, Suzuki, Shigeaki, additional, Nakahara, Jin, additional, Nagaoka, Astushi, additional, Yoshimura, Shunsuke, additional, Konno, Shingo, additional, Tsuya, Youko, additional, Uzawa, Akiyuki, additional, Kubota, Tomoya, additional, Takahashi, Masanori, additional, Okuno, Tatsusada, additional, Murai, Hiroyuki, additional, Gilhus, Nils Erik, additional, Boldingh, Marion, additional, Rønning, Tone Hakvåg, additional, Chyrchel-Paszkiewicz, Urszula, additional, Kumor, Klaudiusz, additional, Zielinski, Tomasz, additional, Banaszkiewicz, Krzysztof, additional, Błaż, Michał, additional, Kłósek, Agata, additional, Świderek-Matysiak, Mariola, additional, Szczudlik, Andrzej, additional, Paśko, Aneta, additional, Szczechowski, Lech, additional, Banach, Marta, additional, Ilkowski, Jan, additional, Kapetanovic Garcia, Solange, additional, Ortiz Bagan, Patricia, additional, Belén Cánovas Segura, Ana, additional, Turon Sans, Joana, additional, Vidal Fernandez, Nuria, additional, Cortes Vicente, Elena, additional, Rodrigo Armenteros, Patricia, additional, Ashraghi, Mohammad, additional, Cavey, Ana, additional, Haslam, Liam, additional, Emery, Anna, additional, Liow, Kore, additional, Yegiaian, Sharon, additional, Barboi, Alexandru, additional, Vazquez, Rosa Maria, additional, Lennon, Joshua, additional, Pascuzzi, Robert M, additional, Bodkin, Cynthia, additional, Guingrich, Sandra, additional, Comer, Adam, additional, Bromberg, Mark, additional, Janecki, Teresa, additional, Saba, Sami, additional, Tellez, Marco, additional, Elsheikh, Bakri, additional, Freimer, Miriam, additional, Heintzman, Sarah, additional, Govindarajan, Raghav, additional, Guptill, Jeffrey, additional, Massey, Janice M, additional, Juel, Vern, additional, Gonzalez, Natalia, additional, Habib, Ali A, additional, Mozaffar, Tahseen, additional, Korb, Manisha, additional, Goyal, Namita, additional, Machemehl, Hannah, additional, Manousakis, Georgios, additional, Allen, Jeffrey, additional, Harper, Emily, additional, Farmakidis, Constantine, additional, Saavedra, Lilli, additional, Dimachkie, Mazen, additional, Pasnoor, Mamatha, additional, Akhter, Salma, additional, Beydoun, Said, additional, McIlduff, Courtney, additional, Nye, Joan, additional, Roy, Bhaskar, additional, Munro Sheldon, Bailey, additional, Nowak, Richard, additional, Barnes, Benjamin, additional, Rivner, Michael, additional, Suresh, Niraja, additional, Shaw, Jessica, additional, Harvey, Brittany, additional, Lam, Lucy, additional, Thomas, Nikki, additional, Chopra, Manisha, additional, Traub, Rebecca E, additional, Jones, Sarah, additional, Wagoner, Mary, additional, Smajic, Sejla, additional, Aly, Radwa, additional, Katz, Jonathan, additional, Chen, Henry, additional, Miller, Robert G, additional, Jenkins, Liberty, additional, Khan, Shaida, additional, Khatri, Bhupendra, additional, Sershon, Lisa, additional, Pavlakis, Pantelis, additional, Holzberg, Shara, additional, Li, Yuebing, additional, Caristo, Irys B, additional, Marquardt, Robert, additional, Hastings, Debbie, additional, Rube, Jacob, additional, Lisak, Robert P, additional, Choudhury, Aparna, additional, Ruzhansky, Katherine, additional, Sachdev, Amit, additional, Shin, Susan, additional, Bratton, Joan, additional, Fetter, Mary, additional, McKinnon, Naya, additional, McKinnon, Jonathan, additional, Sissons-Ross, Laura, additional, Sahu, Amos, additional, and Distad, B Jane, additional

Published
2023
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21. Subgroup outcomes from RAISE: A randomized, Phase 3 trial of zilucoplan in generalized myasthenia gravis (P1-5.006)

Author

Weiss, Michael D., primary, Bresch, Saskia, additional, Freimer, Miriam, additional, Hewamadduma, Channa, additional, Juntas-Morales, Raul, additional, Leite, M. Isabel, additional, Maniaol, Angelina, additional, Masuda, Masayuki, additional, Sivakumar, Kumaraswamy, additional, Zajda, Malgorzata, additional, Boroojerdi, Babak, additional, Duda, Petra W., additional, De La Borderie, Guillemette, additional, and Howard, James F., additional

Published
2023
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23. Diagnosis and management of Becker muscular dystrophy: the French guidelines.

Author

Magot, Armelle, Wahbi, Karim, Leturcq, France, Jaffre, Sandrine, Péréon, Yann, Sole, Guilhem, Ambrosi, Pierre, Boulle, Ralph, Cances, Claude, Cossee, Mireille, Debelleix, Stéphane, Delleci, Claire, Duboc, Denis, Feasson, Leonard, Ghorab, Karima, Goizet, Cyril, Gonzales, Jesus, Iriart, Xavier, Juntas-Morales, Raul, and Llontop, Claudio

Subjects
BECKER muscular dystrophy, DUCHENNE muscular dystrophy, NEUROMUSCULAR diseases, NEUROLOGIC examination, DIAGNOSIS
Abstract

Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelines have been published for management of BMD. Many clinicians are inexperienced in managing the complications of this disease. In France, a committee of experts from a wide range of disciplines met in 2019 to establish recommendations, with the goal of improving care of patients with BMD. Here, we present the tools to provide diagnosis of BMD as quickly as possible and for differential diagnoses. Then, we describe the multidisciplinary approach essential for optimum management of BMD. We give recommendations for the initial assessment and follow-up of the neurological, respiratory, cardiac, and orthopedic consequences of males who present with BMD. Finally, we describe the optimal therapeutic management of these complications. We also provide guidance on cardiac management for female carriers. [ABSTRACT FROM AUTHOR]

Published
2023
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24. Titin copy number variations associated with dominant inherited phenotypes

Author

Perrin, Aurélien, Métay, Corinne, Savarese, Marco, Yaou, Rabah Ben, Demidov, German, Solé, Guilhem, Péréon, Yann, Bertini, Enrico, Fattori, Fabiana, D’amico, Adele, Ricci, Federica, Ginsberg, Mira, Seferian, Andreea, Boespflug-Tanguy, Odile, Servais, Laurent, Chapon, Françoise, Lagrange, Emmeline, Gaudon, Karen, Nelson, Isabelle, Guyant-Maréchal, Lucie, Johari, Mridul, Goethem, Charles Van, Fardeau, Michel, Juntas-Morales, Raul, Udd, Bjarne, Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Myologie, and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Published
2023

26. Immunological, Clinical, and Epidemiological Features of Guillain-Barré Syndrome Associated with SARS-CoV-2 Infection

Author

Restrepo-Vera, Juan Luis, primary, Llauradó, Arnau, additional, Palasí, Antoni, additional, González-Martínez, Victoria, additional, Gratacòs, Margarida, additional, Salvadó, Maria, additional, Sánchez-Tejerina, Daniel, additional, Sotoca, Javier, additional, Raguer, Núria, additional, and Juntas-Morales, Raul, additional

Published
2023
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27. Limb-girdle myopathy and mild intellectual disability: the expanding spectrum of TANGO2-related disease

Author

Restrepo-Vera, Juan Luis, primary, Muñoz-Cabello, Patricia, additional, Pérez-Rodon, Jordi, additional, Rovira-Moreno, Eulàlia, additional, Codina-Sola, Marta, additional, Llauradó, Arnau, additional, Salvadó, Maria, additional, Sánchez-Tejerina, Daniel, additional, Sotoca, Javier, additional, Martínez-Sáez, Elena, additional, García-Arumí, Elena, additional, and Juntas-Morales, Raul, additional

Published
2023
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28. Distal hereditary motor neuropathy due to a novelYARS1gene pathogenic variant

Author

Llauradó, Arnau, primary, Gratacòs‐Viñola, Margarida, additional, Rovira‐Moreno, Eulàlia, additional, Codina‐Solà, Marta, additional, Salvadó, Maria, additional, Sanchez‐Tejerina, Daniel, additional, Sotoca, Javier, additional, Raguer, Núria, additional, Garcia‐Arumi, Elena, additional, and Juntas‐Morales, Raul, additional

Published
2023
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29. Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene

Author

Llauradó, Arnau, primary, Rovira‐Moreno, Eulalia, additional, Codina‐Solà, Marta, additional, Martínez‐Saez, Elena, additional, Salvadó, Maria, additional, Sanchez‐Tejerina, Daniel, additional, Sotoca, Javier, additional, López‐Diego, Verónica, additional, Restrepo‐Vera, Juan Luis, additional, Garcia‐Arumi, Elena, additional, and Juntas‐Morales, Raul, additional

Published
2022
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30. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Author

Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K., Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassan, Savvatis, Kostantinos, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Marijon, Eloi, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Sole, Guilhem, Labombarda, Fabien, Richard, Pascale, Metay, Corinne, Quijano-Roy, Susana, Dabaj, Ivana, Klug, Didier, Vantyghem, Marie-Christine, Chevalier, Philippe, Ambrosi, Pierre, Salort, Emmanuelle, Sadoul, Nicolas, Waintraub, Xavier, Chikhaoui, Khadija, Mabo, Philippe, Combes, Nicolas, Maury, Philippe, Sellal, Jean-Marc, Tedrow, Usha B., Kalman, Jonathan M., Vohra, Jitendra, Androulakis, Alexander F.A., Zeppenfeld, Katja, Thompson, Tina, Barnerias, Christine, Bécane, Henri-Marc, Bieth, Eric, Boccara, Franck, Bonnet, Damien, Bouhour, Françoise, Boulé, Stéphane, Brehin, Anne-Claire, Chapon, Françoise, Cintas, Pascal, Cuisset, Jean-Marie, Davy, Jean-Marc, De Sandre-Giovannoli, Annachiara, Demurger, Florence, Desguerre, Isabelle, Dieterich, Klaus, Durigneux, Julien, Echaniz-Laguna, Andoni, Eschalier, Romain, Ferreiro, Ana, Ferrer, Xavier, Francannet, Christine, Fradin, Mélanie, Gaborit, Bénédicte, Gay, Arnaud, Hagège, Albert, Isapof, Arnaud, Jeru, Isabelle, Juntas Morales, Raul, Lagrue, Emmanuelle, Lamblin, Nicolas, Lascols, Olivier, Laugel, Vincent, Lazarus, Arnaud, Leturcq, France, Levy, Nicolas, Magot, Armelle, Manel, Véronique, Martins, Raphaël, Mayer, Michèle, Mercier, Sandra, Meune, Christophe, Michaud, Maud, Minot-Myhié, Marie-Christine, Muchir, Antoine, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Petiot, Philippe, Petit, Florence, Praline, Julien, Rollin, Anne, Sabouraud, Pascal, Sarret, Catherine, Schaeffer, Stéphane, Taithe, Frederic, Tard, Céline, Tiffreau, Vincent, Toutain, Annick, Vatier, Camille, Walther-Louvier, Ulrike, Eymard, Bruno, Charron, Philippe, Vigouroux, Corinne, Bonne, Gisèle, Kumar, Saurabh, Elliott, Perry, and Duboc, Denis

Published
2019
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33. RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

Author

Benkirane, Mehdi, primary, Da Cunha, Dylan, additional, Marelli, Cecilia, additional, Larrieu, Lise, additional, Renaud, Mathilde, additional, Varilh, Jessica, additional, Pointaux, Morgane, additional, Baux, David, additional, Ardouin, Olivier, additional, Vangoethem, Charles, additional, Taulan, Magali, additional, Daumas Duport, Benjamin, additional, Bergougnoux, Anne, additional, Corbillé, Anne-Gaelle, additional, Cossée, Mireille, additional, Juntas Morales, Raul, additional, Tuffery-Giraud, Sylvie, additional, Koenig, Michel, additional, Isidor, Bertrand, additional, and Vincent, Marie-Claire, additional

Published
2022
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35. Identification of two novel RRM2Bvariants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern

Author

Restrepo-Vera, Juan Luis, Rovira-Moreno, Eulàlia, Ramón, Javier, Codina-Sola, Marta, Llauradó, Arnau, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Martínez-Sáez, Elena, Martí, Ramon, García-Arumí, Elena, and Juntas-Morales, Raul

Abstract

RRM2Bencodes the p53-inducible small subunit (p53R2) of ribonucleotide reductase, a key protein for mitochondrial DNA (mtDNA) synthesis. Pathogenic variants in this gene result in familial mitochondrial disease in adults and children, secondary to a maintenance disorder of mtDNA. This study describes two patients, mother and son, with early-onset chronic progressive external ophthalmoplegia (PEO). Skeletal muscle biopsy from the latter was examined: cytochrome c oxidase (COX)-negative fibres were shown, and molecular studies revealed multiple mtDNA deletions. A next-generation sequencing gene panel for nuclear-encoded mitochondrial maintenance genes identified two unreported heterozygous missense variants (c.514 G > A and c.682 G > A) in the clinically affected son. The clinically affected mother harboured the first variant in homozygous state, and the clinically unaffected father harboured the remaining variant in heterozygous state. In silico analyses predicted both variants as deleterious. Cell culture studies revealed that patients’ skin fibroblasts, but not fibroblasts from healthy controls, responded to nucleoside supplementation with enhanced mtDNA repopulation, thus suggesting an in vitro functional difference in patients’ cells. Our results support the pathogenicity of two novel RRM2Bvariants found in two patients with autosomal recessive PEO with multiple mtDNA deletions inherited with a pseudodominant pattern.

Published
2023
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37. Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy

Author

Gros, Marilyn, primary, Nunes, Andreia M., additional, Daoudlarian, Douglas, additional, Pini, Jonathan, additional, Martinuzzi, Emanuela, additional, Barbosa, Susana, additional, Ramirez, Monique, additional, Puma, Angela, additional, Villa, Luisa, additional, Cavalli, Michele, additional, Grecu, Nicolae, additional, Garcia, Jérémy, additional, Siciliano, Gabriele, additional, Solé, Guilhem, additional, Juntas-Morales, Raul, additional, Jones, Peter L., additional, Jones, Takako, additional, Glaichenhaus, Nicolas, additional, and Sacconi, Sabrina, additional

Published
2022
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39. Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

Author

Pipis, Menelaos, primary, Cortese, Andrea, additional, Polke, James M, additional, Poh, Roy, additional, Vandrovcova, Jana, additional, Laura, Matilde, additional, Skorupinska, Mariola, additional, Jacquier, Arnaud, additional, Juntas-Morales, Raul, additional, Latour, Philippe, additional, Petiot, Philippe, additional, Sole, Guilhem, additional, Fromes, Yves, additional, Shah, Sachit, additional, Blake, Julian, additional, Choi, Byung-Ok, additional, Chung, Ki Wha, additional, Stojkovic, Tanya, additional, Rossor, Alexander M, additional, and Reilly, Mary M, additional

Published
2021
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40. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Author

Juntas Morales, Raul, primary, Perrin, Aurélien, additional, Solé, Guilhem, additional, Lacourt, Delphine, additional, Pegeot, Henri, additional, Walther-Louvier, Ulrike, additional, Cintas, Pascal, additional, Cances, Claude, additional, Espil, Caroline, additional, Theze, Corinne, additional, Zenagui, Reda, additional, Yauy, Kevin, additional, Cosset, Elodie, additional, Renard, Dimitri, additional, Rigau, Valerie, additional, Maues de Paula, Andre, additional, Uro-Coste, Emmanuelle, additional, Arne-Bes, Marie-Christine, additional, Martin Négrier, Marie-Laure, additional, Leboucq, Nicolas, additional, Acket, Blandine, additional, Malfatti, Edoardo, additional, Biancalana, Valérie, additional, Metay, Corinne, additional, Richard, Pascale, additional, Rendu, John, additional, Rivier, François, additional, Koenig, Michel, additional, and Cossée, Mireille, additional

Published
2021
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41. Novel dominant distal titinopathy phenotype associated with copy number variation

Author

Perrin, Aurélien, primary, Juntas Morales, Raul, additional, Chapon, Françoise, additional, Thèze, Corinne, additional, Lacourt, Delphine, additional, Pégeot, Henri, additional, Uro‐Coste, Emmanuelle, additional, Giovannini, Diane, additional, Leboucq, Nicolas, additional, Mallaret, Martial, additional, Lagrange, Emmeline, additional, Rigau, Valérie, additional, Gaudon, Karen, additional, Richard, Pascale, additional, Koenig, Michel, additional, Métay, Corinne, additional, and Cossée, Mireille, additional

Published
2021
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42. Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy

Author

Subréville, Marie, primary, Bonello‐Palot, Nathalie, additional, Yahiaoui, Douniazed, additional, Beloribi‐Djefaflia, Sadia, additional, Fernandes, Sara, additional, Stojkovic, Tanya, additional, Cassereau, Julien, additional, Péréon, Yann, additional, Echaniz‐Laguna, Andoni, additional, Violleau, Marie‐Hélène, additional, Soulages, Antoine, additional, Louis, Sarah Léonard, additional, Masingue, Marion, additional, Magot, Armelle, additional, Delmont, Emilien, additional, Sacconi, Sabrina, additional, Adams, David, additional, Labeyrie, Céline, additional, Genestet, Steeve, additional, Noury, Jean‐Baptiste, additional, Chanson, Jean‐Baptiste, additional, Lévy, Nicolas, additional, Juntas‐Morales, Raul, additional, Tard, Céline, additional, Sole, Guilhem, additional, and Attarian, Shahram, additional

Published
2021
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44. Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.

Author

Llauradó, Arnau, Rovira‐Moreno, Eulalia, Codina‐Solà, Marta, Martínez‐Saez, Elena, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, López‐Diego, Verónica, Restrepo‐Vera, Juan Luis, Garcia‐Arumi, Elena, and Juntas‐Morales, Raul

Subjects
MISSENSE mutation, GENETIC variation, MITOCHONDRIAL DNA abnormalities, MITOCHONDRIAL DNA, EYE paralysis, NUCLEAR DNA
Abstract

The molecular study of nuclear genes involved in the replication and maintenance of mtDNA identified the c.614A > G (p.Asp205Gly) homozygote variant in exon 6 of the I TOP3A i gene (NM 004618.5). We report two adult siblings with c.614A>G (p.Asp205Gly) homozygous missense variant in the TOP3A gene who had CPEO plus syndrome. Chronic progressive external ophthalmoplegia (CPEO) plus syndrome due to pathogenic biallelic variants in TOP3A gene has been described in only one single patient. [Extracted from the article]

Published
2023
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45. Reply to the Letter to the Editor in response to "Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal".

Author

Meisel, Andreas, Baggi, Fulvio, Behin, Anthony, Evoli, Amelia, Kostera‐Pruszczyk, Anna, Mantegazza, Renato, Juntas Morales, Raul, Punga, Anna Rostedt, Sacconi, Sabrina, Schroeter, Michael, Verschuuren, Jan, Crathorne, Louise, Holmes, Kris, and Leite, Maria‐Isabel

Subjects
MYASTHENIA gravis, AUTOANTIBODIES, IMMUNOGLOBULIN G, BIOMARKERS, NEUROMUSCULAR diseases
Abstract

Particularly in highly active disease courses, we urgently need blood-based biomarkers for therapy guidance, which could include autoantibody levels, taking into account individual therapy. For example, treatment of AChR autoantibody-positive generalized MG with neonatal Fc receptor inhibitors reveals a strong correlation between clinical severity and AChR autoantibodies, as well as total immunoglobulin G (IgG) levels. Keywords: activity; autoantibody level; biomarker; myasthenia gravis EN activity autoantibody level biomarker myasthenia gravis 1162 1164 3 03/08/23 20230401 NES 230401 Dear Editor, We appreciate the comments from Li et al. [[1]] on aspects of our article entitled "Role of Autoantibody Levels as Biomarkers in the Management of Patients With Myasthenia Gravis: A Systematic Review and Expert Appraisal.". [Extracted from the article]

Published
2023
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46. Expanding the Spectrum ofAP5Z1‐Related Hereditary Spastic Paraplegia ( HSP‐SPG48 ): A Multicenter Study on a Rare Disease

Author

Breza, Marianthi, primary, Hirst, Jennifer, additional, Chelban, Viorica, additional, Banneau, Guillaume, additional, Tissier, Laurène, additional, Kol, Bophara, additional, Bourinaris, Thomas, additional, Said, Samia A., additional, Péréon, Yann, additional, Heinzmann, Anna, additional, Debs, Rabab, additional, Juntas‐Morales, Raul, additional, Martinez, Victoria G., additional, Camdessanche, Jean P., additional, Scherer‐Gagou, Clarisse, additional, Zola, Jean‐Médard, additional, Athanasiou‐Fragkouli, Alkyoni, additional, Efthymiou, Stephanie, additional, Vavougios, George, additional, Velonakis, Georgios, additional, Stamelou, Maria, additional, Tzartos, John, additional, Potagas, Constantin, additional, Zambelis, Thomas, additional, Mariotti, Caterina, additional, Blackstone, Craig, additional, Vandrovcova, Jana, additional, Mavridis, Theodoros, additional, Kartanou, Chrisoula, additional, Stefanis, Leonidas, additional, Wood, Nicholas, additional, Karadima, Georgia, additional, LeGuern, Eric, additional, Koutsis, Georgios, additional, Houlden, Henry, additional, and Stevanin, Giovanni, additional

Published
2021
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47. Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2

Author

Giovannelli, Ilaria, primary, Bayatti, Nadhim, additional, Brown, Abigail, additional, Wang, Dennis, additional, Mickunas, Marius, additional, Camu, William, additional, Veyrune, Jean-Luc, additional, Payan, Christine, additional, Garlanda, Cecilia, additional, Locati, Massimo, additional, Juntas-Morales, Raul, additional, Pageot, Nicolas, additional, Malaspina, Andrea, additional, Andreasson, Ulf, additional, Suehs, Carey, additional, Saker, Safa, additional, Masseguin, Christophe, additional, de Vos, John, additional, Zetterberg, Henrik, additional, Al-Chalabi, Ammar, additional, Leigh, P Nigel, additional, Tree, Timothy, additional, Bensimon, Gilbert, additional, Heath, Paul R, additional, Shaw, Pamela J, additional, and Kirby, Janine, additional

Published
2021
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48. The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies

Author

Perrin, Aurélien, primary, Juntas Morales, Raul, additional, Rivier, François, additional, Cances, Claude, additional, Walther-Louvier, Ulrike, additional, Van Goethem, Charles, additional, Thèze, Corinne, additional, Lacourt, Delphine, additional, Pégeot, Henri, additional, Zenagui, Reda, additional, Uro-Coste, Emmanuelle, additional, Leboucq, Nicolas, additional, Malfatti, Edoardo, additional, Delaby, Constance, additional, Lehmann, Sylvain, additional, Rigau, Valérie, additional, Koenig, Michel, additional, and Cossée, Mireille, additional

Published
2020
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49. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Author

Géraud, Justine, primary, Dieterich, Klaus, additional, Rendu, John, additional, Uro Coste, Emmanuelle, additional, Dobrzynski, Murielle, additional, Marcorelle, Pascale, additional, Ioos, Christine, additional, Romero, Norma Beatriz, additional, Baudou, Eloise, additional, Brocard, Julie, additional, Coville, Anne-Cécile, additional, Fauré, Julien, additional, Koenig, Michel, additional, Juntas Morales, Raul, additional, Lacène, Emmanuelle, additional, Madelaine, Angéline, additional, Marty, Isabelle, additional, Pegeot, Henri, additional, Theze, Corinne, additional, Siegfried, Aurore, additional, Cossee, Mireille, additional, and Cances, Claude, additional

Published
2020
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50. Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial

Author

Camu, William, primary, Mickunas, Marius, additional, Veyrune, Jean-Luc, additional, Payan, Christine, additional, Garlanda, Cecilia, additional, Locati, Massimo, additional, Juntas-Morales, Raul, additional, Pageot, Nicolas, additional, Malaspina, Andrea, additional, Andreasson, Ulf, additional, Kirby, Janine, additional, Suehs, Carey, additional, Saker, Safa, additional, Masseguin, Christophe, additional, De Vos, John, additional, Zetterberg, Henrik, additional, Shaw, Pamela J, additional, Al-Chalabi, Ammar, additional, Leigh, P Nigel, additional, Tree, Timothy, additional, and Bensimon, Gilbert, additional

Published
2020
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