Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Marta Gómez García de la Banda"'
Autor:
Marta Gómez-García de la Banda, Emmanuel Simental-Aldaba, Nagia Fahmy, Damien Sternberg, Patricia Blondy, Susana Quijano-Roy, Edoardo Malfatti
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant
Externí odkaz:
https://doaj.org/article/2d021aa9abe64deb8d77e3147c6f7f0a
Akademický článek
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Autor:
Laure Le Goff, Andreea Seferian, Aurelie Phelep, Pascal Rippert, Marie-Laure Mathieu, Claude Cances, Capucine de Lattre, Julien Durigneux, Gaelle Gousse, Dominique Vincent-Genod, Shams Ribault, Marta Gómez García de la Banda, Susana Quijano-Roy, Catherine Sarret, Laurent Servais, Carole Vuillerot
Publikováno v:
Neurological Sciences. 44:1139-1139
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57abefc083f9aa071843feb8599cf953
https://doi.org/10.1007/s10072-022-06522-w
https://doi.org/10.1007/s10072-022-06522-w
Autor:
Ivana Dabaj, Corinne Metay, Tanya Stojkovic, Nicolas Leboucq, Susana Quijano-Roy, Jana Haberlová, François Rivier, John Rendu, Giorgio Tasca, David Gómez-Andrés, Audrey Benezit, Ximena Ortega, Fabiana Fattori, Helge Amthor, Edoardo Malfatti, Jana Zídková, Angel Sanchez-Montanez, Norma B. Romero, John Vissing, Clara Gontijo Camelo, Claudia Castiglioni, Marta Gómez García de la Banda, Laura Costa Comellas, Robert Carlier, Pascal Laforêt, Nicoline Løkken, Francina Munell, Christophe Béroud, Martin Kyncl, Eliana Cavassa
Publikováno v:
Journal of Neurology
Journal of Neurology, In press, ⟨10.1007/s00415-021-10806-0⟩
Quijano-Roy, S, Haberlova, J, Castiglioni, C, Vissing, J, Munell, F, Rivier, F, Stojkovic, T, Malfatti, E, Gómez García de la Banda, M, Tasca, G, Costa Comellas, L, Benezit, A, Amthor, H, Dabaj, I, Gontijo Camelo, C, Laforêt, P, Rendu, J, Romero, N B, Cavassa, E, Fattori, F, Beroud, C, Zídková, J, Leboucq, N, Løkken, N, Sanchez-Montañez, Á, Ortega, X, Kynčl, M, Metay, C, Gómez-Andrés, D & Carlier, R Y 2022, ' Diagnostic interest of whole-body MRI in early-and late-onset LAMA2 muscular dystrophies : a large international cohort ', Journal of Neurology, vol. 269, pp. 2414–2429 . https://doi.org/10.1007/s00415-021-10806-0
Journal of Neurology, Springer Verlag, In press, ⟨10.1007/s00415-021-10806-0⟩
Journal of Neurology, In press, ⟨10.1007/s00415-021-10806-0⟩
Quijano-Roy, S, Haberlova, J, Castiglioni, C, Vissing, J, Munell, F, Rivier, F, Stojkovic, T, Malfatti, E, Gómez García de la Banda, M, Tasca, G, Costa Comellas, L, Benezit, A, Amthor, H, Dabaj, I, Gontijo Camelo, C, Laforêt, P, Rendu, J, Romero, N B, Cavassa, E, Fattori, F, Beroud, C, Zídková, J, Leboucq, N, Løkken, N, Sanchez-Montañez, Á, Ortega, X, Kynčl, M, Metay, C, Gómez-Andrés, D & Carlier, R Y 2022, ' Diagnostic interest of whole-body MRI in early-and late-onset LAMA2 muscular dystrophies : a large international cohort ', Journal of Neurology, vol. 269, pp. 2414–2429 . https://doi.org/10.1007/s00415-021-10806-0
Journal of Neurology, Springer Verlag, In press, ⟨10.1007/s00415-021-10806-0⟩
Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the class
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc5af5c89a0dc83f9fd2adc80c86d27
https://pubmed.ncbi.nlm.nih.gov/34559299
https://pubmed.ncbi.nlm.nih.gov/34559299
Autor:
Vicenç Garcia-Patos, Marta Gómez-García de la Banda, Susana Boronat, Paula Fernández-Álvarez, Eduardo F Tizzano, Ángel Sánchez-Montañez García-Carpintero
Publikováno v:
Journal of Pediatric Neurology. 18:258-262
Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous disorder. It is characterized by ocular anomalies (epibulbar choristomas), skin lesions (as nevus psiloliparus and subcutaneous lipomas), and central nervous system abnormalit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a18243d58469e3ff04db58f13565a04
https://doi.org/10.1055/s-0039-1692985
https://doi.org/10.1055/s-0039-1692985
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Spinal muscular atrophy (SMA) is a lower motor neuron disease due to biallelic mutations in the SMN1 gene on chromosome 5. It is characterized by progressive muscle weakness of limbs, bulbar and respiratory muscles. The disease is usually classified
Externí odkaz:
https://doaj.org/article/f1036cdee05e47f3aa0272bdfcdaf816
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017.
Externí odkaz:
https://doaj.org/article/318647e3ed8f4622944ee433cb371756
Autor:
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
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-C
Externí odkaz:
https://doaj.org/article/26f04871fe514653a1c9404311bbfe4d