Results 91 to 100 of about 1,998 (153)

Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil

Jornal de Pediatria
Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness.
Ana Letícia Amorim de Albuquerque, Júlia Kersting Chadanowicz, Isabela Possebon Bevilacqua, Ana Lucia Portella Staub, Pablo Brea Winckler, Patricia Zambone da Silva, Simone Chaves Fagondes, Renata Salatti Ferrari, Claudia Denise de Oliveira Trojahn, Viviane Zechlinski Sacharuk, Thayne Woycinck Kowalski, Karina Carvalho Donis, Michele Michelin Becker, Jonas Alex Morales Saute   +13 more
doaj   +1 more source

Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy

Neurotherapeutics
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.
Megan A. Waldrop
doaj   +1 more source

Hepatotoxicidade grave relacionada ao onasemnogene abeparvovec em paciente com atrofia muscular espinhal tipo I : relato de caso de um hospital do Sul do Brasil [PDF]

A terapia gênica com onasemnogene abeparvovec (Zolgensma®) representa um avanço significativo no tratamento da atrofia muscular espinhal (AME) tipo I, uma doença neuromuscular caracterizada pela degeneração progressiva dos neurônios motores.
Zappe, Michele Daiane Baum
core  

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan. [PDF]

Ann Clin Transl Neurol
Saito K, Benguerba K, Tsuchida K, Yazawa K, Tsumiyama I, Kayama H, Reyna SP, Khan F, Finkel RS.   +8 more
europepmc   +1 more source

Determinants of hepatic enzyme elevations following onasemnogene abeparvovec: Results from a unified immunomodulation protocol. [PDF]

J Neuromuscul Dis
Mundada V, Parashar S, Dhawan A.
europepmc   +1 more source

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland - part II - expert based recommendations for surveillance and management of side-effects. [PDF]

J Neuromuscul Dis
Ziegler A, Weiß C, Vill K, Baumann M, Bernert G, Blaschek A, Eisenkölbl A, Flotats-Bastardas M, Friese J, Holzwarth D, Ganter C, Goldhahn K, Hahn A, von der Hagen M, Hartmann H, Hasselmann O, Horber V, Husain RA, Illsinger S, Jacquier D, Johannsen J, Köhler C, Kölbel H, Kolodzig M, Klein A, Pechmann A, von Moers A, Müller-Felber W, Rauscher C, Schreiber G, Schwartz O, Sproß J, Stettner GM, Stoltenburg C, Stumpe E, Trollmann R, Wiegand G, Wilichowski E, Schara U, Kirschner J, collaborators and members of the INTEGRATE ATMP consortium.   +40 more
europepmc   +1 more source

Risdiplam Add-On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi-Center Case Series. [PDF]

Muscle Nerve
Stoltenburg C, Goldhahn K, von Moers A, Kaindl AM, Weiß C.   +4 more
europepmc   +1 more source

Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey. [PDF]

Adv Ther, 2023
Toro W, Yang M, Georgieva M, Anderson A, LaMarca N, Patel A, Akbarnejad H, Dabbous O.   +7 more
europepmc   +1 more source

Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations. [PDF]

J Neuromuscul Dis
Proud CM, Kichula EA, Matesanz SE, Kumar A, Saito K, Laverty CG, Farrar MA, Bharucha-Goebel DX, Haberlová J, Mundada V, Kwon JM, McMillan HJ.   +11 more
europepmc   +1 more source

Author Correction: Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial. [PDF]

Nat Med
Kwon JM, Munell F, Le Goff L, Yuge K, Kato T, Cances C, De Waele L, Woodcock IR, Mercuri EM, Proud CM, Darras BT, Hayes LH, Oskoui M, Visootsak J, Williams G, Ilić A, Yang L, van der Pol WL.   +17 more
europepmc   +1 more source