Results 121 to 130 of about 2,046 (140)

Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria. [PDF]

EClinicalMedicine
Keritam O, Erdler M, Fasching B, Zulehner G, Rath J, Krenn M, Waldhör T, Gruber VA, Langweil N, Kiss C, Griedl TA, Gold V, Wanschitz J, Hotter A, Kleinveld VEA, Horlings CGC, Erber A, Schernhammer E, Troger J, Grinzinger S, Müller P, Langenscheidt D, Rappold M, Wiesenhofer A, Gosk-Tomek M, Knipp F, Mahal S, Bernert G, Baumann M, Zimprich F, Topakian R, Eggers C, Quasthoff S, Löscher W, Cetin H.   +34 more
europepmc   +1 more source

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

Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program. [PDF]

Int J Neonatal Screen
Leanca MC, Onose G, Nicolae G, Neagu E, Vasile D, Bercu E, Balanescu OM, Capitanescu A, Munteanu C, Popescu C, Mirea A.   +10 more
europepmc   +1 more source

Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes. [PDF]

Orphanet J Rare Dis
Martí Y, Gorni K, Kumari S, Mahajan A, Baranello G, Waele L, McGrattan KE.   +6 more
europepmc   +1 more source

Patient reported outcome measures in spinal muscular atrophy and duchenne muscular dystrophy: review of instruments and their inclusion in clinical and regulatory processes. [PDF]

Neurol Sci
Malandrini F, Spataro C, Meregaglia M, Sansone V, D'amico A, Scopinaro A, Ciani O.   +6 more
europepmc   +1 more source

Pioneering SMA therapies for all types: survival gains, cost dynamics, and performance-based agreements. [PDF]

Cost Eff Resour Alloc
Al-Jedai A, Al-Mudaiheem H, AlSakran A, Bashiri FA, Ghamdi F, Almuhaizea MA, AlSamman A, Awad N, Ojeil R.   +8 more
europepmc   +1 more source

Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation. [PDF]

Int J Neonatal Screen
Thokala P, Bessey A, Knowles R, Marshall J, Visintin C, Lawton M, Lombardo S.   +6 more
europepmc   +1 more source

Five-year disease-modifying therapeutic experience of 102 Chinese paediatric 5q-spinal muscular atrophy: a retrospective analysis. [PDF]

Brain Commun
Jiang M, Liang C, Zhang Y, Zheng K, Xu K, He L, Tao J, Wu W, Zheng R, Rao M, Zhang W, Zhou W, Liu L.   +12 more
europepmc   +1 more source

Pregnancy in women with spinal muscular atrophy (SMA): maternal and neonatal outcomes with multi-speciality management. [PDF]

J Neurol
Cohen D, Nana M, Hart N, Arrandale L, Kelleher C, Nelson-Piercy C.   +5 more
europepmc   +1 more source

Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China. [PDF]

BMC Neurol
Zhang D, Yao F, Ling C, Jiang S, Yang X, Dai Y.   +5 more
europepmc   +1 more source