Search Results - "Gall, Laura Le"
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Molecular and Cellular Mechanisms Affected in ALS
Published in Journal of personalized medicine (01-09-2020)“…Amyotrophic lateral sclerosis (ALS) is a terminal late-onset condition characterized by the loss of upper and lower motor neurons. Mutations in more than 30…”
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Therapeutic Strategies Targeting DUX4 in FSHD
Published in Journal of clinical medicine (07-09-2020)“…Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit…”
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A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS
Published in Journal of personalized medicine (01-09-2020)“…Amyotrophic lateral sclerosis is a rare and fatal neurodegenerative disease characterised by progressive deterioration of upper and lower motor neurons that…”
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4
DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation
Published in Journal of personalized medicine (01-09-2020)“…Facioscapulohumeral dystrophy (FSHD) is the most frequent muscular disease in adults. FSHD is characterized by a weakness and atrophy of a specific set of…”
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Molecular, Histological, and Functional Changes in Acta1-MCM;FLExDUX4/+ Mice
Published in International journal of molecular sciences (23-10-2024)“…DUX4 is the major gene responsible for facioscapulohumeral dystrophy (FSHD). Several mouse models expressing DUX4 have been developed, the most commonly used…”
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Exosomes in Ageing and Motor Neurone Disease: Biogenesis, Uptake Mechanisms, Modifications in Disease and Uses in the Development of Biomarkers and Therapeutics
Published in Cells (Basel, Switzerland) (28-10-2021)“…Intercellular communication between neurons and their surrounding cells occurs through the secretion of soluble molecules or release of vesicles such as…”
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Optimized method for extraction of exosomes from human primary muscle cells
Published in Skeletal muscle (08-07-2020)“…Abstract Skeletal muscle is increasingly considered an endocrine organ secreting myokines and extracellular vesicles (exosomes and microvesicles), which can…”
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RIPK3‐mediated cell death is involved in DUX4‐mediated toxicity in facioscapulohumeral dystrophy
Published in Journal of cachexia, sarcopenia and muscle (01-12-2021)“…Background Facioscapulohumeral dystrophy (FSHD) is caused by mutations leading to the aberrant expression of the DUX4 transcription factor in muscles. DUX4 was…”
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Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles
Published in Journal of cachexia, sarcopenia and muscle (01-04-2022)“…Background The cause of the motor neuron (MN) death that drives terminal pathology in amyotrophic lateral sclerosis (ALS) remains unknown, and it is thought…”
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10
Is accuracy of estimated fetal weight improved by better image quality scores?
Published in International journal of gynecology and obstetrics (01-04-2023)“…Objective To assess in a group of ultrasound operators of various levels of experience the predictive value of systematic quality scoring to assess estimated…”
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Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles
Published in Journal of cachexia, sarcopenia and muscle (22-02-2022)“…Background: The cause of the motor neuron (MN) death that drives terminal pathology in amyotrophic lateral sclerosis (ALS) remains unknown, and it is thought…”
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