Therapeutic advances in 5q-linked spinal muscular atrophy.
Sign Up to like & getrecommendations! Published in 2018 at "Arquivos de neuro-psiquiatria"
DOI: 10.1590/0004-282x20180011
Abstract: Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four… read more here.
Keywords: advances linked; therapeutic advances; spinal muscular; linked spinal ... See more keywords
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.793937
Abstract: Objective To characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms. Methods We collected serum samples from a cohort of 49 patients… read more here.
Keywords: creatine; chchd10 linked; linked spinal; serum ... See more keywords