Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Autor: Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

Abstract Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved child

Externí odkaz: https://doaj.org/article/b995c184e3d74c469752208af81f61fa

Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis

Autor: Enrico Radaelli, Charles-Antoine Assenmacher, Jillian Verrelle, Esha Banerjee, Florence Manero, Salim Khiati, Anais Girona, Guillermo Lopez-Lluch, Placido Navas, Marco Spinazzi

Publikováno v: eLife, Vol 12 (2023)

Impaired spermatogenesis and male infertility are common manifestations associated with mitochondrial diseases, yet the underlying mechanisms linking these conditions remain elusive. In this study, we demonstrate that mice deficient for the mitochond

Externí odkaz: https://doaj.org/article/a88355b7b3524c5db145e8b32e4e08b3

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

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

Publikováno v: The Lancet Neurology. 22:395-406

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0568446536f763084fedb7742520db01
https://doi.org/10.1016/s1474-4422(23)00080-7

Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice

Autor: Aikaterini S. Papadopoulou, Lutgarde Serneels, Tilmann Achsel, Wim Mandemakers, Zsuzsanna Callaerts-Vegh, James Dooley, Pierre Lau, Torik Ayoubi, Enrico Radaelli, Marco Spinazzi, Melanie Neumann, Sébastien S. Hébert, Asli Silahtaroglu, Adrian Liston, Rudi D'Hooge, Markus Glatzel, Bart De Strooper

Publikováno v: Neurobiology of Disease, Vol 73, Iss , Pp 275-288 (2015)

miR-29 is expressed strongly in the brain and alterations in expression have been linked to several neurological disorders. To further explore the function of this miRNA in the brain, we generated miR-29a/b-1 knockout animals. Knockout mice develop a

Externí odkaz: https://doaj.org/article/4cfe1d691b9748729b660c08f5ce439c

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

Autor: Aurélien Trimouille, Naïg Gueguen, C. Rouzier, Pascal Reynier, Christophe Verny, Patrizia Amati-Bonneau, Dominique Bonneau, Marie Laure Martin-Negrier, Claude Jardel, Samira Ait-El-Mkadem Saadi, Magalie Barth, Julien Cassereau, Franck Letournel, David Goudenège, Céline Bris, Benoit Rucheton, Estelle Colin, Magot Armelle, Stéphane Allouche, Sylvie Bannwarth, Véronique Paquis-Flucklinger, Abdel Slama, Yann Péréon, Valérie Desquiret-Dumas, Vincent Procaccio, Guy Lenaers, Pauline Gaignard, Marco Spinazzi

Publikováno v: Genetics in Medicine. 23:1769-1778

Diseases caused by defects in mitochondrial DNA (mtDNA) maintenance machinery, leading to mtDNA deletions, form a specific group of disorders. However, mtDNA deletions also appear during aging, interfering with those resulting from mitochondrial diso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c88d8af60a7573cbd1bcf5d6aa075a
https://doi.org/10.1038/s41436-021-01206-w