Search Results - "Oskarsson, Bjorn"
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Clinical characteristics of a large cohort of US participants enrolled in the National Amyotrophic Lateral Sclerosis (ALS) Registry, 2010-2015
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03-07-2019)“…Background: Amyotrophic lateral sclerosis (ALS) is a progressive fatal disease with a varying range of clinical characteristics. Objective: To describe the…”
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Divergence, Convergence, and Therapeutic Implications: A Cell Biology Perspective of C9ORF72-ALS/FTD
Published in Molecular neurodegeneration (08-06-2020)“…Ever since a GGGGCC hexanucleotide repeat expansion mutation in C9ORF72 was identified as the most common cause of familial amyotrophic lateral sclerosis (ALS)…”
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C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy
Published in Science translational medicine (02-09-2020)“…TAR DNA-binding protein 43 (TDP-43) inclusions are a pathological hallmark of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), including…”
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Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity
Published in Science (American Association for the Advancement of Science) (15-02-2019)“…How hexanucleotide GGGGCC (G C ) repeat expansions in cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is not understood. We…”
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Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
Published in Nature medicine (01-08-2018)“…The major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is a C9orf72 G 4 C 2 repeat expansion 1 , 2 . Proposed…”
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Serum neurofilament light protein correlates with unfavorable clinical outcomes in hospitalized patients with COVID-19
Published in Science translational medicine (14-07-2021)“…Brain imaging studies of patients with COVID-19 show evidence of macro- and microhemorrhagic lesions, multifocal white matter hyperintensities, and lesions…”
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Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial
Published in JAMA neurology (01-02-2021)“…Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of the motor nervous system. Clinical studies have demonstrated cortical and…”
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Needs of persons living with ALS at home and their family caregivers: A scoping review
Published in Muscle & nerve (01-09-2023)“…Introduction/Aims Most persons with amyotrophic lateral sclerosis (ALS) live at home with support of family caregivers, with escalating complexity of care over…”
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Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration
Published in Science (American Association for the Advancement of Science) (07-10-2022)“…Frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS) are associated with both a repeat expansion in the gene and mutations in the TANK-binding…”
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Cortical excitability threshold can be increased by the AMPA blocker Perampanel in amyotrophic lateral sclerosis
Published in Muscle & nerve (01-08-2021)“…Introduction/Aims Cortical hyperexcitability is a feature of amyotrophic lateral sclerosis (ALS) and cortical excitability can be measured using transcranial…”
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The relationship between ventilatory function and cognitive and behavioral impairment in ALS
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (30-07-2021)“…Objective: To study the association between ventilatory function and cognitive and behavioral impairment in ALS patients accounting for the effects of…”
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(−)‐Epicatechin induces mitochondrial biogenesis and markers of muscle regeneration in adults with Becker muscular dystrophy
Published in Muscle & nerve (01-02-2021)“…Introduction We conducted an open‐label study to examine the effects of the flavonoid (−)‐epicatechin in seven ambulatory adult patients with Becker muscular…”
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Paravertebral block for radiologically inserted gastrostomy tube placement in amyotrophic lateral sclerosis
Published in Muscle & nerve (01-07-2020)“…Introduction Radiologically inserted gastrostomy (RIG) placement in patients with amyotrophic lateral sclerosis (ALS) carries risks related to periprocedural…”
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Analysis of the US Safety Data for Edaravone (Radicava®) From the Third Year After Launch
Published in Drugs in R&D (01-09-2022)“…Background Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neuromuscular disease with no curative therapies. Edaravone (Radicava ® ) (Mitsubishi…”
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Myasthenia gravis exacerbation after discontinuing mycophenolate: A single-center cohort study
Published in Neurology (22-03-2016)“…OBJECTIVE:To determine whether discontinuation or marked reduction of mycophenolate mofetil (MMF) in patients with myasthenia gravis (MG) causes MG…”
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Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD
Published in Cell (11-04-2024)“…Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) share many clinical, pathological, and genetic features, but a detailed…”
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A novel muscle cramp scale (MCS) in amyotrophic lateral sclerosis (ALS)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03-07-2019)“…Objective: To develop a novel muscle cramp scale (MCS) to assess frequency, severity and clinically meaningful information related to cramps among patients…”
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National Study of Muscle Cramps in ALS in the USA
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01-02-2017)“…The objective of this study was to describe muscle cramps in an US sample of amyotrophic lateral sclerosis (ALS) patients. Utilizing an anonymous web based…”
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Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
Published in Acta neuropathologica (01-06-2024)“…The most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a repeat expansion in the gene…”
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