Articles with "spinal muscular" as a keyword



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Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy

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Published in 2018 at "JAMA Pediatrics"

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
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Increased systemic HSP70B levels in spinal muscular atrophy infants

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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
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Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

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Published in 2022 at "Annals of Clinical and Translational Neurology"

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
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The 4‐Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy

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Published in 2022 at "Annals of Neurology"

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
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Comparison of neurofilament light and heavy chain in spinal muscular atrophy and amyotrophic lateral sclerosis: A pilot study

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Published in 2023 at "Brain and Behavior"

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
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Development and validation of a haplotype‐free technique for non‐invasive prenatal diagnosis of spinal muscular atrophy

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Published in 2019 at "Journal of Clinical Laboratory Analysis"

DOI: 10.1002/jcla.23046

Abstract: To develop a technique for non‐invasive prenatal diagnosis of spinal muscular atrophy and validate its performance. read more here.

Keywords: diagnosis spinal; invasive prenatal; spinal muscular; prenatal diagnosis ... See more keywords
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Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era

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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
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The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity

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Published in 2022 at "Molecular Genetics & Genomic Medicine"

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
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Label‐free quantitative proteomic analysis of extracellular vesicles released from fibroblasts derived from patients with spinal muscular atrophy

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Published in 2021 at "PROTEOMICS"

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
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Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy

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Published in 2019 at "Pediatric Pulmonology"

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
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Spinal muscular atrophy: Surviving respiratory failure, intensive care and pursuing creatively fulfilled life.

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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