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

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Autor: Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Haluk Topaloglu, Aurelio Hernández-Laín, Diclehan Orhan, Mehmet Alikasifoglu, Jennifer Duff, Sabine Specht, Kristen Nowak, Gianina Ravenscroft, Katherine Chao, Zaheer Valivullah, Sandra Donkervoort, Dimah Saade, Carsten Bönnemann, Volker Straub, Grace Yoon

Publikováno v: J Med Genet

BackgroundBiallelic pathogenic variants inFXR1have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a milder form charac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26f42a0976c3ebed1d2058b788869ef7
https://doi.org/10.1136/jmedgenet-2021-108341

Pearls & Oy-sters: Arteriovenous Malformation With Sinus Thrombosis and Thalamic Hemorrhage

Autor: Patricia Rodrigo, Armenteros, Solange, Kapetanovic, Sonia Gonzalez, Lopez, Enrique, Vazquez-Lorenzo, Lander Anton, Mendez, Juan Jose, Gomez Muga, Edison Santos, Morales Deza, Markel Erburu, Iriarte, Juan Carlos, Garcia-Monco

Publikováno v: Neurology. 98:550-553

Deep cerebral venous thrombosis is an uncommon condition, which usually produces headache, altered consciousness, and ocular movement abnormality. Parkinsonism occasionally occurs when there is basal ganglia involvement. We report a case of a 78-year

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15207b8789c9553df0ef7998828434c5
https://doi.org/10.1212/wnl.0000000000200016

Neurologic Manifestations in a Prospective Unselected Series of Hospitalized Patients With COVID-19

Autor: Antonio Cabrera Muras, Patricia Rodrigo Armenteros, Alejandra Collía Fernández, Javier Arranz-Martínez, Markel Erburu Iriarte, Juan Carlos Garcia-Monco, Marian Gomez-Beldarrain, Ana Lorenzo-García, Amaia Bilbao Gonzalez, Solange Kapetanovic

Publikováno v: Neurol Clin Pract

BackgroundAn increasing number of neurologic problems are being described in coronavirus disease 2019 (COVID-19) disease, but their frequency and type have not been defined. In this study, we sought to determine the extent of neurologic manifestation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba191947aa050abb01f3506d1123ab89
https://doi.org/10.1212/cpj.0000000000000913

Nusinersen in adult patients with 5q spinal muscular atrophy: Amulticenter observational cohorts' study

Autor: Juan F. Vázquez‐Costa, Mónica Povedano, Andrés E. Nascimiento‐Osorio, Antonio Moreno Escribano, Solange Kapetanovic Garcia, Raul Dominguez, Jessica M. Exposito, Laura González, Carla Marco, Julita Medina Castillo, Nuria Muelas, Daniel Natera de Benito, Nancy Carolina Ñungo Garzón, Inmaculada Pitarch Castellano, Teresa Sevilla, David Hervás

Publikováno v: EUROPEAN JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

The aim was to assess the safety and efficacy of nusinersen in adult 5q spinal muscular atrophy (SMA) patients.Patients older than 15 years and followed for at least 6 months with one motor scale (Hammersmith Functional Motor Scale Expanded, HFMSE; R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b79299574e2c3c00e6c1d90f7a07e336
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16720