Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy
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DOI: 10.1001/jamapediatrics.2017.4409
Abstract: The US Food and Drug Administration’s December 2016 approval of nusinersen for the treatment of patients with all subtypes of spinal muscular atrophy ushered in a new era for patients with spinal muscular atrophy, their… read more here.
Keywords: spinal muscular; nusinersen treatment; ethical challenges; muscular atrophy ... See more keywords
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
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
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DOI: 10.1002/acn3.51519
Abstract: To provide a greater understanding of the tolerability, safety and clinical outcomes of onasemnogene abeparvovec in real‐world practice, in a broad population of infants with spinal muscular atrophy (SMA). read more here.
Keywords: safety; muscular atrophy; abeparvovec spinal; onasemnogene abeparvovec ... See more keywords
Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial
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DOI: 10.1002/acn3.51667
Abstract: Patients with spinal and bulbar muscular atrophy (SBMA) often experience muscular weakness under cold exposure. read more here.
Keywords: bulbar muscular; muscular atrophy; mexiletine spinal; spinal bulbar ... See more keywords
The 4‐Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy
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DOI: 10.1002/ana.26358
Abstract: The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy Stella Deng, MD, Bo Hoon Lee, MD, Emma Ciafaloni, MD, and Samuel J. Mackenzie, MD, PhD 1,2 Yeo et al. recently reported on… read more here.
Keywords: spinal muscular; treatment infants; muscular atrophy; copy ... See more keywords
Comparison of neurofilament light and heavy chain in spinal muscular atrophy and amyotrophic lateral sclerosis: A pilot study
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DOI: 10.1002/brb3.2997
Abstract: Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) were two major motor neuron diseases with similar symptoms and poor outcomes. This study aimed to identify potential biomarkers in disease monitoring and differential diagnosis of… read more here.
Keywords: spinal muscular; lateral sclerosis; muscular atrophy; amyotrophic lateral ... See more keywords
Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era
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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
The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity
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DOI: 10.1002/mgg3.1897
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (SMN1) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of… read more here.
Keywords: spinal muscular; utility risk; muscular atrophy; clinical utility ... See more keywords
Label‐free quantitative proteomic analysis of extracellular vesicles released from fibroblasts derived from patients with spinal muscular atrophy
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DOI: 10.1002/pmic.202000301
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive disorder that represents a significant cause of infant mortality. SMA is characterized by reduced levels of the Survival Motor Neuron protein leading to the loss of alpha… read more here.
Keywords: extracellular vesicles; spinal muscular; free quantitative; label free ... See more keywords
Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy
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DOI: 10.1002/ppul.24203
Abstract: Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent‐ventilation by 13.6 months. This study assessed the health outcomes of SMA1 infants treated with AVXS‐101 gene… read more here.
Keywords: health outcomes; spinal muscular; avxs 101; atrophy type ... See more keywords
Spinal muscular atrophy: Surviving respiratory failure, intensive care and pursuing creatively fulfilled life.
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric pulmonology"
DOI: 10.1002/ppul.25922
Abstract: Diagnosed with spinal muscular atrophy type 2 (SMA II) in early primary school, the wheelchair-bound girl developed severe pneumonia on one occasion, when she became critically ill and was admitted to the paediatric intensive care… read more here.
Keywords: care; atrophy surviving; intensive care; spinal muscular ... See more keywords