Results 171 to 180 of about 20,899 (290)

V. Spinal and Bulbar Muscular Atrophy (SBMA) and Bulbar Muscular Atrophy (SMA)

Nihon Naika Gakkai Zasshi, 2022
Shinichiro Yamada, Tomoki Hirunagi, Kentaro Sahashi, Masahisa Katsuno   +3 more
openaire   +1 more source

EE97 Budget Impact Analysis with and without Performance-Based Managed Entry Agreement (PBMEA) of Different Treatments for Spinal Muscular Atrophy (SMA) in the Kingdom of Saudi Arabia [PDF]

, 2023
A. Al Jedai, H. AL-Mudaiheem, Aljohara A Alsakran, Fahad A. Bashiri, Fouad A.S. Al Ghamdi, Mohammed Abdelrahman Almuhaizae, Abdulaziz AlSamman, N. Awad, Rita O’jeil   +8 more
openalex   +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

Proximal spinal muscular atrophy: current orthopedic perspective

The Application of Clinical Genetics, 2013
Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is ...
Haaker G, Fujak A
doaj  

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

The role of experiential knowledge within attitudes towards genetic carrier screening : a comparison of people with and without experience of spinal muscular atrophy [PDF]

, 2018
Purpose: Autosomal recessive conditions, whilst individually rare, are a significant health burden with limited treatment options. Population carrier screening has been suggested as a means of tackling them.
Boardman, Felicity K., Griffiths, Frances, Warren, O., Young, P.   +3 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

Reply to the Comment by Zhang et al

European Journal of Neurology, Volume 33, Issue 1, January 2026.
Bogdan Bjelica
wiley   +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

P.076 3-year Clinical Lessons Learned from the Alberta Spinal Muscular Atrophy Newborn Screening (SMA-NBS) [PDF]

JK Mah, Price Tr, Mathilde R. Crone, Hanna Kolski, Fatemeh Dehghan Niri   +4 more
openalex   +1 more source