Zobrazeno 1 - 10
of 386
pro vyhledávání: '"risdiplam"'
Autor:
Gianmarco Severa, Maria del Carmen Alfaro, Christophe Alimi Ichola, Hussein Shoaito, Sarah Souvannanorath, François-Jerôme Authier, Edoardo Malfatti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Background Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible and validated outcome measure
Externí odkaz:
https://doaj.org/article/69314ef67955413389a14a593c50a8b3
Autor:
Roberto Lúcio Muniz Júnior, Álex Brunno do Nascimento Martins, Bárbara Rodrigues Alvernaz dos Santos, Ludmila Peres Gargano, Marcus Carvalho Borin, Marcus Carvalho Borin, Francisco de Assis Acurcio, Juliana Alvares-Teodoro, Augusto Afonso Guerra Júnior
Publikováno v:
Jornal de Assistência Farmacêutica e Farmacoeconomia, Vol 9, Iss s. 1 (2024)
Introdução Atrofia muscular espinhal (AME 5q) é caracterizada pela degeneração dos neurônios motores inferiores que, consequentemente, leva à paralisia com atrofia muscular associada a mutações bialélicas do gene SMN1. Os pacientes com AME
Externí odkaz:
https://doaj.org/article/dc5e8e6fc0924b1f924c7b42c5cc8ac1
Autor:
Natan Bar-Chama, Bakri Elsheikh, Channa Hewamadduma, Carol Jean Guittari, Ksenija Gorni, Lutz Mueller
Publikováno v:
Neurology and Therapy, Vol 13, Iss 4, Pp 933-947 (2024)
Abstract Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene resulting in reduced levels of SMN protein. SMN protein is produced by cells throughout the body, and evi
Externí odkaz:
https://doaj.org/article/f5bd081ed8f9402d83371c6ecdf5ed7a
Publikováno v:
Zdravniški Vestnik, Vol 93, Iss 3-4, Pp 135-145 (2024)
Spinalna mišična atrofija (SMA) je redka genetska bolezen, ki prizadene motorične nevrone, zaradi česar propadajo mišice ter se slabša splošno stanje bolnika. Do nedavnega vzročnega zdravljenja za SMA ni bilo, zato so bili bolniki popolnoma o
Externí odkaz:
https://doaj.org/article/5dd65c4cfd414e54bbbc621a9f6073af
Autor:
Megan A. Waldrop
Publikováno v:
Neurotherapeutics, Vol 21, Iss 4, Pp e00437- (2024)
Spinal muscular atrophy is no longer a leading cause of inherited infant death in the United States. Since 2016, three genetic therapies have been approved for the treatment of spinal muscular atrophy. Each therapy has been well studied with robust d
Externí odkaz:
https://doaj.org/article/0569f13daaa44588b6ce6fc9ab300e5d
Autor:
Bogdan Bjelica, Camilla Wohnrade, Iraima Cespedes, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background We aimed to describe the experience of a single neuromuscular center in Germany in treating adult spinal muscular atrophy (SMA) patients with risdiplam and to analyze motor function and treatment satisfaction during a follow-up pe
Externí odkaz:
https://doaj.org/article/11ac270ef2334ca7af0866f872574f1d
Autor:
Edmar Zanoteli, Alexandra Prufer de Queiróz Campos Araujo, Michele Michelin Becker, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França, Marcela Camara Machado-Costa, Wilson Marques, Ciro Matsui Jr, Rodrigo Holanda Mendonça, Flávia Nardes, Acary Souza Bulle Oliveira, Andre Luis Santos Pessoa, Jonas Alex Morales Saute, Paulo Sgobbi, Hélio Van der Linden, Juliana Gurgel-Giannetti
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 82, Iss 01, Pp 001-018 (2024)
Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor a
Externí odkaz:
https://doaj.org/article/d5abdbdbc3fe4b4b985d20f677267041
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes characterized by the gradual weakening and deterioration of muscles, often leading to substantial disability and premature mortality. Over the past decade, remarkable strides
Externí odkaz:
https://doaj.org/article/63d93e465dd04741a98323aba8bc6f4e
Akademický článek
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Autor:
Ekaterina S. Novikova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 17, Iss 3, Pp 88-93 (2023)
5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy. A specific therapy has changed the prognosis for such patients, prevente
Externí odkaz:
https://doaj.org/article/f8521850309a4f51b42320f94935bee8