Survey of feeding issues experienced by patients with spinal muscular atrophy type 2 in Japan. [PDF]
Uchio Y, Ikai T.
europepmc +1 more source
Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology
Abstract Background Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen. Objective This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ...
Christian Rummey+9 more
wiley +1 more source
Physical capacity in non‐ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study [PDF]
Birgit F. Steffensen+4 more
openalex +1 more source
Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series. [PDF]
Svoboda MD+7 more
europepmc +1 more source
Central Pathophysiology and Brain Network Changes Related to Camptocormia in Parkinson's Disease
ABSTRACT Background Studies on brain connectivity offer important insights into the changes that occur in central network diseases such as Parkinson's disease (PD). Camptocormia, a condition characterized by abnormal flexion of the trunk, often occurs in advanced PD, but its underlying mechanisms are not yet clear.
Tauqeer Anjum+10 more
wiley +1 more source
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals. [PDF]
Woodcock IR+9 more
europepmc +1 more source
Motor Unit Number Index (MUNIX) in Control Children: Reference Values and Reliability
ABSTRACT Introduction/Aims The motor unit number index (MUNIX) is recognized as a reliable electrophysiological biomarker, and reference values are available for healthy adults but not for children. The aim of this study was to determine reference MUNIX values in healthy children.
Christophe Boulay+7 more
wiley +1 more source
Genetic risk assessment in carrier testing for spinal muscular atrophy [PDF]
Shuji Ogino+4 more
openalex +1 more source
Newborn screening for spinal muscular atrophy in Ukraine: from pilot project to national programme. [PDF]
Olkhovych N+12 more
europepmc +1 more source