المؤلفون: Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais

المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2155-2160 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/ef602e623038483db8127100cc3b1503Test

المؤلفون: Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero

المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: ACTA1, Congenital myopathy, Nemaline rods, Intranuclear rods, Cytoplasmic bodies, Nuclear envelope, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/aa0b0640d52441babc07367bace6ddceTest

المؤلفون: Ivana Dabaj, Robert Y. Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, Norma B. Romero, Wenting Trang, Susana Quijano-Roy, Dominique P. Germain

المصدر: Frontiers in Genetics, Vol 13 (2023)

مصطلحات موضوعية: Sheldon-hall syndrome, distal arthrogryposis type 2B, DA2B, TNNT3, neurogenic pattern, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.955041/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/3ae4d9f0200244718e5054798c47ea83Test

المؤلفون: Sergi Cesar, Oscar Campuzano, Jose Cruzalegui, Victori Fiol, Isaac Moll, Estefania Martínez-Barrios, Irene Zschaeck, Daniel Natera-de Benito, Carlos Ortez, Laura Carrera, Jessica Expósito, Rubén Berrueco, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gómez García-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Andrés Nascimento, Georgia Sarquella-Brugada

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: laminopathies, sudden cardiac death, cardiomyopathy, A/C lamins, LMNA-related diseases, LMNA-related cardiomyopathy, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2023.1142937/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/26f04871fe514653a1c9404311bbfe4dTest

المؤلفون: Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1Test

المؤلفون: Sophie Boursange, Marco Araneda, Caroline Stalens, Isabelle Desguerre, Christine Barnerias, Marie-Christine Nougues, Arnaud Isapof, Susana Quijano-Roy, Nadia Blu Genestine, Laetitia Ouillade, Maripaz Martinez Jalilie, Claudia Castiglioni, Odile Boespflug-Tanguy, Marcela Gargiulo, The SMAPAR Study Group

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: dilemmatic decisions, palliative care, parents, caregivers, spinal amyotrophy type 1, SMAPAR Study, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.1062390/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/82dca8f183e8483996df84ab454d708aTest

المؤلفون: Marta Gómez-García de la Banda, Emmanuel Simental-Aldaba, Nagia Fahmy, Damien Sternberg, Patricia Blondy, Susana Quijano-Roy, Edoardo Malfatti

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: congenital myasthenic syndrome, CHRNE, neuromuscular junction, β2 adrenergic agonists, salbutamol, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.909715/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/2d021aa9abe64deb8d77e3147c6f7f0aTest

المؤلفون: Marta Gómez-García de la Banda, Emmanuel Simental-Aldaba, Nagia Fahmy, Damien Sternberg, Patricia Blondy, Susana Quijano‐Roy, Edoardo Malfatti

مصطلحات موضوعية: Myasthenia Gravis and Thymic Tumors Research, Neurology, Medicine, Health Sciences, Chemotherapy-Induced Peripheral Neuropathy in Cancer Treatment, Oncology, Mechanisms of Intracellular Membrane Trafficking, Cell Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Neuromuscular Junction, Congenital myasthenic syndrome, Neuromuscular transmission, Salbutamol, Internal medicine, Mutation, Cholinesterase, Myasthenia gravis, Endocrinology, Acetylcholine receptor, Pediatrics, Genetics, FOS Biological sciences, Biology, Receptor, Gene, Asthma

العلاقة: https://dx.doi.org/10.60692/44zct-r7x53Test

الإتاحة: https://doi.org/10.60692/ng234-16b6510.60692/44zct-r7x53Test

المؤلفون: Lorenzo Maggi, Susana Quijano-Roy, Carsten Bönnemann, Gisèle Bonne

المساهمون: Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Reference Centre for Neuromuscular Disorders ( FILNEMUS), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Raymond Poincaré [Garches], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), 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, 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)

المصدر: Neuromuscular Disorders
Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩

مصطلحات موضوعية: lamins, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology, LMNA lamins myopathy Emery-Dreifuss heart, Emery-Dreifuss, [SDV]Life Sciences [q-bio], Pediatrics, Perinatology and Child Health, LMNA, heart, Neurology (clinical), Genetics (clinical), myopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::615655d4e3e5f61687df5225a14ed7f2Test
https://doi.org/10.1016/j.nmd.2023.04.009Test

المؤلفون: Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, Pierre Beze-Beyrie, Vanessa Pauly, Susana Quijano-Roy, Brigitte Chabrol, Isabelle Desguerre

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Spinal muscular atrophy type I, Spinal muscular atrophy type II, Nusinersen, Motor function measure, MFM, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-01414-8Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/318647e3ed8f4622944ee433cb371756Test