Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Marta Gomez Garcia, De La Banda"'
Autor:
Isabelle Desguerre, Rémi Barrois, Frédérique Audic, Christine Barnerias, Brigitte Chabrol, Jean Baptiste Davion, Julien Durigneux, Caroline Espil-Taris, Marta Gomez-Garcia de la Banda, Marine Guichard, Arnaud Isapof, Marie Christine Nougues, Vincent Laugel, Laure Le Goff, Sandra Mercier, Anne Pervillé, Christian Richelme, Marie Thibaud, Catherine Sarret, Cyril Schweitzer, Hervé Testard, Valérie Trommsdorff, Catherine Vanhulle, Ulrike Walther-Louvier, Cécilia Altuzarra, Mondher Chouchane, Juliette Ropars, Susana Quijano-Roy, Claude Cances
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Spinal muscular atrophy type 1 (SMA1) is the most severe and early form of SMA, a genetic disease with motor neuron degeneration. Onasemnogene abeparvovec gene transfer therapy (GT) has changed the natural history of SMA1, but rea
Externí odkaz:
https://doaj.org/article/15c4bb3f54a24e75bc25f097944bb5f3
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
Akademický článek
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Autor:
Cecilia Altuzarra, Altynshash Jaxybayeva, Marta Gomez Garcia de la Banda, Bakhytkul Myrzaliyeva, Jon Andoni Urtizberea, Jean-Michel Vallat, Raluca Anca Tudorache, Meriem Tazir, Andoni Echaniz-Laguna, Alain Verloes, Susana Quijano-Roy, Bruno Francou
Publikováno v:
neurogenetics. 22:333-341
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in the NTRK1 gene encoding the neurotrophic tyrosine kinase-1 receptor. In this multicenter observational retrospective study, we i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa20ee8bbda3184a88f30e5a12c6c645
https://doi.org/10.1007/s10048-021-00668-z
https://doi.org/10.1007/s10048-021-00668-z
Autor:
frédérique AUDIC, Sonia M Dubois, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Marie-Christine Nougues, Jean-Baptiste Davion, Christian Richelme, Carole Vuillerot, Laure Legoff, Pascal Sabouraud, Claude Cances, Vincent Laugel, Juliette Ropars, Caroline Espil-Taris, Valérie Trommsdorff, Anne Pervillé, Marta Gomez Garcia de la Banda, Hervé Testard, Mondher Chouchane, Ulrike Walther-Louvier, Cyril Schweizer, Cécile Halbert, Myriam Badri, Vanessa Pauly, Susana Quijano-Roy, Brigitte Chabrol, Isabelle Desguerre
Background Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder due to an autosomal recessive mutation in the survival motor neuron 1 gene (SMN1) causing degeneration of the anterior horn cells of the spinal cord and resulting in mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51a60df9d58b98836c9181dd6f81239c
https://doi.org/10.21203/rs.3.rs-1932236/v1
https://doi.org/10.21203/rs.3.rs-1932236/v1
Autor:
Joris Menard, Andreea M Seferian, Emmanuelle Fleurence, Audrey Barzic, Alexandra Binoche, Géraldine Labouret, Laurianne Coutier, Carole Vuillerot, Blaise M Bieleu, Marta Gomez Garcia de la Banda, Harriet Corvol, Laurent Servais, Jessica Taytard
Publikováno v:
Pediatric Pulmonology
Pediatric Pulmonology, 2022, 57 (6), pp.1505-1512. ⟨10.1002/ppul.25899⟩
Pediatric Pulmonology, 2022, 57 (6), pp.1505-1512. ⟨10.1002/ppul.25899⟩
International audience; Introduction: The recent development of disease-modifying treatments in spinal muscular atrophy (SMA) type 1 shifted these patients' management from palliative to proactive. The aim of this study was to assess patients' noctur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8edb7850436cb41fa609b331504897e
https://pubmed.ncbi.nlm.nih.gov/35307979
https://pubmed.ncbi.nlm.nih.gov/35307979
Autor:
Mathilde, Gaume, Etienne, Saudeau, Marta, Gomez-Garcia de la Banda, Viviane, Azzi-Salameh, Blaise, Mbieleu, Delphine, Verollet, Audrey, Benezit, Jean, Bergounioux, Aben, Essid, Isabelle, Doehring, Ivana, Dabaj, Isabelle, Desguerre, Christine, Barnerias, Vicken, Topouchian, Christophe, Glorion, Susana, Quijano-Roy, Lotfi, Miladi
Publikováno v:
Journal of pediatric orthopedics. 41(9)
Treatment of spinal muscular atrophy (SMA) scoliosis has evolved in the last decade, with the emergence of fusionless surgical techniques that allow correction of the deformity before the end of growth spurt. These techniques are expected to delay de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a69bce09d3a72d1b73b0b17c5291437b
https://pubmed.ncbi.nlm.nih.gov/34411042
https://pubmed.ncbi.nlm.nih.gov/34411042
Autor:
Andoni, Echaniz-Laguna, Cecilia, Altuzarra, Alain, Verloes, Marta Gomez Garcia, De La Banda, Susana, Quijano-Roy, Raluca Anca, Tudorache, Altynshash, Jaxybayeva, Bakhytkul, Myrzaliyeva, Meriem, Tazir, Jean-Michel, Vallat, Bruno, Francou, Jon Andoni, Urtizberea
Publikováno v:
Neurogenetics. 22(4)
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in the NTRK1 gene encoding the neurotrophic tyrosine kinase-1 receptor. In this multicenter observational retrospective study, we i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d56e759647366d34338ec8bba470ec74
https://pubmed.ncbi.nlm.nih.gov/34405299
https://pubmed.ncbi.nlm.nih.gov/34405299
Autor:
David Gómez-Andrés, Rafael C. Rodrigues, Antonio M. G. Pinheiro, Robert-Yves Carlier, Susana Quijano-Roy, Mickael Tordjman, Marta Gomez Garcia de la Banda
Publikováno v:
ISBI
Muscle texture analysis in Magnetic Resonance Imaging (MRI) has revealed a good correlation with typical histological changes resulting from neuromuscular disorders. In this research, we assess the effectiveness of several features in describing intr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71a8543218c78a857946dda538da785b
https://doi.org/10.1109/isbi48211.2021.9433942
https://doi.org/10.1109/isbi48211.2021.9433942