Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditis elegans model of spinal muscular atrophy [PDF]
James R. Doyle +5 more
openalex +1 more source
Abstract Background Postural abnormality (PA) is a key motor symptom in Parkinson's disease (PD) that leads to disability and death. However, the pathophysiology underlying PA is still unknown. Objective The objective of this study was to explore the neural patterns behind PAs and measures toward functional restoration using repetitive transcranial ...
Zhuang Wu +9 more
wiley +1 more source
Application of Biomarkers in Spinal Muscular Atrophy. [PDF]
Gao C, Zhan Y, Chen H, Deng C.
europepmc +1 more source
Dr. Saravanan V. S., Karthiraja A. S., Sankaranarayanan A., Gowtham Prakash U., Gunavathy V., Guna V., Muniyan N., Metilda Stella Rani G.*
openalex +1 more source
Characteristics of Swallowing Function in People with Parkinson's Disease: A Scoping Review
Abstract Background Most individuals with Parkinson's disease (PD) develop dysphagia during the course of their disease. It is crucial to comprehensively understand swallowing characteristics specific to PD for effective treatment. Objectives To systematically analyze and synthesize swallowing characteristics in people with PD compared with healthy ...
Kerstin Erfmann +6 more
wiley +1 more source
Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence. [PDF]
Sel EK +6 more
europepmc +1 more source
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls [PDF]
Ping Fang +11 more
openalex +1 more source
Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy
ABSTRACT Introduction/Aims Although classically characterized as a motor neuron disease, spinal muscular atrophy (SMA) is increasingly recognized as a multisystem disorder. We previously showed hepatocyte‐intrinsic steatosis in SMA, raising the question of whether SMA carriers, who are typically asymptomatic, may also exhibit subclinical hepatic ...
Lingyu Sun +15 more
wiley +1 more source
Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation. [PDF]
Thokala P +6 more
europepmc +1 more source

