Search Results - "Sedel, Frédéric"
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Targeting demyelination and virtual hypoxia with high-dose biotin as a treatment for progressive multiple sclerosis
Published in Neuropharmacology (01-11-2016)“…Progressive multiple sclerosis (MS) is a severely disabling neurological condition, and an effective treatment is urgently needed. Recently, high-dose biotin…”
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A long nuclear-retained non-coding RNA regulates synaptogenesis by modulating gene expression
Published in The EMBO journal (15-09-2010)“…A growing number of long nuclear‐retained non‐coding RNAs (ncRNAs) have recently been described. However, few functions have been elucidated for these ncRNAs…”
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Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis?
Published in Multiple sclerosis (01-02-2018)Get full text
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MD1003 (high-dose biotin) for the treatment of progressive multiple sclerosis: A randomised, double-blind, placebo-controlled study
Published in Multiple sclerosis (01-11-2016)“…Background: Treatment with MD1003 (high-dose biotin) showed promising results in progressive multiple sclerosis (MS) in a pilot open-label study. Objective: To…”
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Cerebrospinal fluid metabolomics highlights dysregulation of energy metabolism in overt hepatic encephalopathy
Published in Journal of hepatology (01-12-2016)“…Graphical abstract…”
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Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial
Published in Lancet neurology (01-02-2014)“…Summary Background Creutzfeldt-Jakob disease (CJD) is a fatal, untreatable prion encephalopathy. Previous studies showed that doxycycline is effective in…”
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High doses of biotin in chronic progressive multiple sclerosis: A pilot study
Published in Multiple sclerosis and related disorders (01-03-2015)“…Abstract Background No drug has been found to have any impact on progressive multiple sclerosis (MS). Biotin is a vitamin acting as a coenzyme for carboxylases…”
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Reply to Letter to the Editor: Biotin supplementation in MS clinically valuable but can alter multiple blood test results by Siddiqui U, et al
Published in Multiple sclerosis (01-04-2017)Get full text
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High-dose pharmaceutical-grade biotin in patients with demyelinating neuropathies: a phase 2b open label, uncontrolled, pilot study
Published in BMC neurology (30-10-2023)“…Abstract Background We proposed to investigate high-dose pharmaceutical-grade biotin in a population of demyelinating neuropathies of different aetiologies, as…”
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MetaboRank: network-based recommendation system to interpret and enrich metabolomics results
Published in Bioinformatics (15-01-2019)“…Abstract Motivation Metabolomics has shown great potential to improve the understanding of complex diseases, potentially leading to therapeutic target…”
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Psychiatric manifestations of treatable hereditary metabolic disorders in adults
Published in Annals of general psychiatry (24-09-2014)“…Detecting psychiatric disorders of secondary origin is a crucial concern for the psychiatrist. But how can this reliably be done among a large number of…”
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High Dose Pharmaceutical Grade Biotin (MD1003) Accelerates Differentiation of Murine and Grafted Human Oligodendrocyte Progenitor Cells In Vivo
Published in International journal of molecular sciences (12-12-2022)“…Accumulating evidences suggest a strong correlation between metabolic changes and neurodegeneration in CNS demyelinating diseases such as multiple sclerosis…”
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Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review
Published in Journal of inherited metabolic disease (01-09-2013)“…Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. From a series of 11 patients and 30 cases previously reported in the…”
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The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients
Published in Orphanet journal of rare diseases (09-10-2012)“…Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme…”
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Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
Published in Orphanet journal of rare diseases (16-04-2016)“…Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma…”
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Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings
Published in Annals of neurology (01-09-2012)“…Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and…”
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Recommendations on the diagnosis and management of Niemann-Pick disease type C
Published in Molecular genetics and metabolism (01-10-2009)“…Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and…”
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MD1003 (High-Dose Pharmaceutical-Grade Biotin) for the Treatment of Chronic Visual Loss Related to Optic Neuritis in Multiple Sclerosis: A Randomized, Double-Blind, Placebo-Controlled Study
Published in CNS drugs (01-07-2018)“…Background Chronic visual loss is a disabling feature in patients with multiple sclerosis (MS). It was recently shown that MD1003 (high-dose…”
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Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
Published in Orphanet journal of rare diseases (02-02-2017)“…Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance…”
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Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition
Published in Journal of the neurological sciences (15-01-2019)“…AbstractObjectiveTo describe the phenotype and the response to folinic acid supplementation of cerebral folate deficiency (CFD) in adults, a disorder diagnosed…”
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