Results 151 to 160 of about 888,799 (202)

Mechanisms of disease pathogenesis in Spinal Muscular Atrophy [PDF]

, 2014
Low levels of survival motor neuron (SMN) protein cause the autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA), through mechanisms that are poorly defined.
Mutsaers, Chantal
core  

Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies. [PDF]

Children (Basel), 2022
Panagiotou P, Kanaka-Gantenbein C, Kaditis AG.   +2 more
europepmc   +1 more source

Spinal Muscular Atrophy Lab

Il capitolo descrive le attività del terzo biennio dello Spinal Muscular Atrophy Laboratory, un laboratorio di management che mira a sostenere i sistemi sanitari (sia regionali che aziendali), i professionisti e i pazienti, con l’intento di migliorare ...
Tozzi, Valeria D., Ferrara, Lucia, Dalponte, Federica   +2 more
core  

Correction to: Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA). [PDF]

Pharmacoeconomics, 2022
Paracha N, Hudson P, Mitchell S, Sutherland CS.   +3 more
europepmc   +1 more source

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). [PDF]

J Neurol, 2023
Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P, Mercuri E, SUNFISH Working Group.   +22 more
europepmc   +1 more source

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA). [PDF]

Pharmacoeconomics, 2022
Paracha N, Hudson P, Mitchell S, Sutherland CS.   +3 more
europepmc   +1 more source

Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol. [PDF]

BMC Neurol, 2023
Ros LAA, Goedee HS, Franssen H, Asselman FL, Bartels B, Cuppen I, van Eijk RPA, Sleutjes BTHM, van der Pol WL, Wadman RI.   +9 more
europepmc   +1 more source

Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada. [PDF]

J Neuromuscul Dis, 2021
McMillan HJ, Gerber B, Cowling T, Khuu W, Mayer M, Wu JW, Maturi B, Klein-Panneton K, Cabalteja C, Lochmüller H.   +9 more
europepmc   +1 more source

ยารับประทาน Risdiplam ทางเลือกของการรักษาโรคกล้ามเนื้ออ่อนแรง Risdiplam in Spinal Muscular Atrophy (SMA): Therapeutic Alternatives [PDF]

บทคัดย่อ Risdiplam ยารับประทานชนิดแรกที่พัฒนาขึ้นเพื่อรักษาโรคกล้ามเนื้ออ่อนแรง (Spinal Muscular Atrophy; SMA) ออกฤทธิ์โดยปรับเปลี่ยนกระบวนการตัดต่อ mRNA (splicing) ของยีน survival motor neuron 2 (SMN2) ทำให้ร่างกายสามารถสร้างโปรตีน SMN ที่สมบูรณ์และม ...
Puangpoemsin, Narumon, Sirisuksan, Vimonkarn   +1 more
core  

Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers. [PDF]

Pharmacoeconomics, 2022
Sutherland CS, Hudson P, Mitchell S, Paracha N.   +3 more
europepmc   +1 more source