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

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/ef602e623038483db8127100cc3b1503

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

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/aa0b0640d52441babc07367bace6ddce

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

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.955041/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/3ae4d9f0200244718e5054798c47ea83

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

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1142937/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/26f04871fe514653a1c9404311bbfe4d

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

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.1062390/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/82dca8f183e8483996df84ab454d708a

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

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.909715/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/2d021aa9abe64deb8d77e3147c6f7f0a

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

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

URL الوصول: https://doaj.org/article/318647e3ed8f4622944ee433cb371756

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::615655d4e3e5f61687df5225a14ed7f2
https://doi.org/10.1016/j.nmd.2023.04.009

المؤلفون: Susana Quijano-Roy, MD, PhD, Marta Gómez-Garcia de la Banda, MD

المصدر: Revista Médica Clínica Las Condes, Vol 29, Iss 5, Pp 530-543 (2018)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0716864018301007; https://doaj.org/toc/0716-8640

URL الوصول: https://doaj.org/article/f5765b7d4dd84e1c8b60077cf0246c26