Increased systemic HSP70B levels in spinal muscular atrophy infants
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51377
Abstract: Despite newly available treatments for spinal muscular atrophy (SMA), novel circulating biomarkers are still critically necessary to track SMA progression and therapeutic response. To identify potential biomarkers, we performed whole‐blood RNA sequencing analysis in SMA… read more here.
Keywords: hsp70b; spinal muscular; hsp70b levels; sma ... See more keywords
Survival motor neuron protein deficiency alters microglia reactivity
Sign Up to like & getrecommendations! Published in 2022 at "Glia"
DOI: 10.1002/glia.24177
Abstract: Survival motor neuron (SMN) protein deficiency results in loss of alpha motor neurons and subsequent muscle atrophy in patients with spinal muscular atrophy (SMA). Reactive microglia have been reported in SMA mice and depleting microglia… read more here.
Keywords: survival motor; protein deficiency; sma; motor ... See more keywords
The supplementary motor area modulates interhemispheric interactions during movement preparation
Sign Up to like & getrecommendations! Published in 2019 at "Human Brain Mapping"
DOI: 10.1002/hbm.24512
Abstract: The execution of coordinated hand movements requires complex interactions between premotor and primary motor areas in the two hemispheres. The supplementary motor area (SMA) is involved in movement preparation and bimanual coordination. How the SMA… read more here.
Keywords: movement; sma; motor; interhemispheric interactions ... See more keywords
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24200
Abstract: Spinal muscular atrophy (SMA) is caused by bi‐allelic loss or pathogenic variants in the SMN1 gene. SMN2, the highly homologous copy of SMN1, is considered the major phenotypic modifier of the disease. Determination of SMN2… read more here.
Keywords: copy number; versatile method; sma; smn2 ... See more keywords
Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1549
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by muscle weakness and atrophy with usually typical cognition. The first disease‐modifying therapy for SMA, nusinersen, was approved by the United States Food and… read more here.
Keywords: spinal muscular; muscular atrophy; sma; genetic counseling ... See more keywords
Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1691
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive and often fatal neurological disease. However, very little is known about the attitudes toward SMA carrier screening among Chinese pregnant people. In this study, pregnant women in… read more here.
Keywords: attitudes toward; carrier screening; pregnant women; sma ... See more keywords
Neue Therapien der spinalen Muskelatrophie
Sign Up to like & getrecommendations! Published in 2020 at "Der Nervenarzt"
DOI: 10.1007/s00115-020-00871-7
Abstract: Die 5‑q-assoziierte spinale Muskelatrophie (SMA) stellte bislang eine kausal nicht behandelbare Erkrankung dar, die durch den Untergang spinaler Motoneurone zu schwersten, fortschreitenden körperlichen Einschränkungen führt. Die monogenetische Ursache in der verhältnismäßig kurzen kodierenden „survival motor… read more here.
Keywords: die; therapien der; sma; der ... See more keywords
Prognostic significance of combining immunohistochemical markers for cancer-associated fibroblasts in lung adenocarcinoma tissue
Sign Up to like & getrecommendations! Published in 2019 at "Virchows Archiv"
DOI: 10.1007/s00428-019-02587-9
Abstract: Cancer-associated fibroblasts (CAFs), activated fibroblasts in a cancer microenvironment, exert various effects upon carcinoma cells including lung adenocarcinoma cells. Various markers identifying CAFs have been proposed, but the correlations among these markers proposed and their… read more here.
Keywords: lung adenocarcinoma; periostin; sma; significance ... See more keywords
SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities
Sign Up to like & getrecommendations! Published in 2017 at "Human Genetics"
DOI: 10.1007/s00439-017-1835-2
Abstract: Low levels of the survival of motor neuron (SMN) protein cause the neurodegenerative disease spinal muscular atrophy (SMA). SMA is a pediatric disease characterized by spinal motor neuron degeneration. SMA exhibits several levels of severity… read more here.
Keywords: response; smn protein; smn; disease ... See more keywords
The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model
Sign Up to like & getrecommendations! Published in 2019 at "Neurochemical Research"
DOI: 10.1007/s11064-019-02814-4
Abstract: Spinal muscular atrophy (SMA) is an inherited disease characterized by progressive motor neuron death and subsequent muscle weakness and is caused by deletion or mutation of survival motor neuron (SMN) 1 gene. Protecting spinal motor… read more here.
Keywords: spinal muscular; ipscs; sma ipscs; sma ... See more keywords
Evaluating the Effectiveness of Diabetes Shared Medical Appointments (SMAs) as Implemented in Five Veterans Affairs Health Systems: a Multi-site Cluster Randomized Pragmatic Trial
Sign Up to like & getrecommendations! Published in 2021 at "Journal of General Internal Medicine"
DOI: 10.1007/s11606-020-06570-y
Abstract: To examine whether diabetes shared medical appointments (SMAs) implemented as part of usual clinical practice in diverse health systems are more effective than usual care in improving and sustaining A1c improvements. A multi-site cluster randomized… read more here.
Keywords: diabetes shared; sma; health systems; shared medical ... See more keywords