Results 211 to 220 of about 113,624 (330)

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

open access: yesMovement Disorders, EarlyView.
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

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series. [PDF]

open access: yesBMC Neurol
Svoboda MD   +7 more
europepmc   +1 more source

Central Pathophysiology and Brain Network Changes Related to Camptocormia in Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
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]

open access: yesNeurol Ther
Woodcock IR   +9 more
europepmc   +1 more source

Motor Unit Number Index (MUNIX) in Control Children: Reference Values and Reliability

open access: yesMuscle &Nerve, EarlyView.
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]

open access: bronze, 2002
Shuji Ogino   +4 more
openalex   +1 more source

Newborn screening for spinal muscular atrophy in Ukraine: from pilot project to national programme. [PDF]

open access: yesLancet Reg Health Eur
Olkhovych N   +12 more
europepmc   +1 more source

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