Search Results - "VERSCHUEREN, Annie"
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Combination of serum and CSF neurofilament-light and neuroinflammatory biomarkers to evaluate ALS
Published in Scientific reports (12-01-2021)“…This monocentric prospective study of patient suffering from Amyotrophic lateral sclerosis (ALS) aims to evaluate the prognosis and diagnostic potential of…”
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2
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
Published in Brain (London, England : 1878) (01-08-2014)“…Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and…”
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3
Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions
Published in Muscle & nerve (01-11-2024)“…Introduction/Aims Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is caused by RFC1 expansions. Sensory neuronopathy, polyneuropathy, and…”
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Region‐specific impairment of the cervical spinal cord (SC) in amyotrophic lateral sclerosis: A preliminary study using SC templates and quantitative MRI (diffusion tensor imaging/inhomogeneous magnetization transfer)
Published in NMR in biomedicine (01-12-2017)“…In this preliminary study, our objective was to investigate the potential of high‐resolution anatomical imaging, diffusion tensor imaging (DTI) and…”
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Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
Published in American journal of human genetics (01-09-2009)“…Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with…”
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Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center
Published in Frontiers in genetics (13-12-2023)“…Collagen type VI-related dystrophies (COL6-RD) are rare diseases with a wide phenotypic spectrum ranging from severe Ullrich's congenital muscular dystrophy…”
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7
New strategy for improving the diagnostic sensitivity of repetitive nerve stimulation in myasthenia gravis
Published in Muscle & nerve (01-04-2017)“…ABSTRACT Introduction: The diagnostic sensitivity of repetitive nerve stimulation (RNS) in patients with myasthenia gravis (MG) varies as a function of the…”
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Structural Connectivity Alterations in Amyotrophic Lateral Sclerosis: A Graph Theory Based Imaging Study
Published in Frontiers in neuroscience (02-10-2019)“…Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disorder. Diffusion magnetic resonance imagining (MRI) studies have…”
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9
Triple-stimulation technique improves the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy
Published in Muscle & nerve (01-04-2015)“…ABSTRACT Introduction: A difficult clinical situation occurs when a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patient does not fulfill…”
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Clinical features and follow‐up of four new cases of facial‐onset sensory and motor neuronopathy
Published in Muscle & nerve (01-01-2011)“…In this study we report three patients with facial‐onset sensory and motor neuronopathy (FOSMN), including the first female to be described. A fourth rather…”
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Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: A multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial
Published in Clinical therapeutics (01-08-2009)“…Abstract Background : Myotonic muscular dystrophy type 1 (MMD1) is the most common form of adult MD, with a mean prevalence of 1 in 8000. Excessive daytime…”
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Lewis-Sumner syndrome and multifocal motor neuropathy
Published in Muscle & nerve (01-01-2005)Get full text
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N°293 – Electrophysiological features of the peripheral neuropathy in cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS)
Published in Clinical neurophysiology (01-06-2023)Get full text
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Visualization of Gray Matter Atrophy and Anterior Corticospinal Tract Signal Hyperintensity in Amyotrophic Lateral Sclerosis Using 7T MRI
Published in Neurology (08-06-2021)Get full text
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Visualization of Gray Matter Atrophy and Anterior Corticospinal Tract Signal Hyperintensity in Amyotrophic Lateral Sclerosis Using 7T MRI
Published in Neurology (08-06-2021)Get full text
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Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study
Published in Lancet neurology (01-01-2021)“…Hereditary transthyretin-mediated amyloidosis is a rare, inherited, progressive disease caused by mutations in the transthyretin (TTR) gene. We assessed the…”
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Face to Face: deciphering facial involvement in inclusion body myositis
Published in Journal of neurology (2024)“…Objective The objective of this study is to evaluate the frequency and characteristics of facial involvement in inclusion body myositis (IBM) patients and to…”
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Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a 'real-world' setting
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (07-07-2024)“…Amyotrophic lateral sclerosis (ALS) is a rare multisystem neurodegenerative disease leading to death due to respiratory failure. Riluzole was the first disease…”
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Could the motor unit number index be an early prognostic biomarker for amyotrophic lateral sclerosis?
Published in Clinical neurophysiology (01-07-2024)“…•Motor unit number index can provide information on the prognosis of the disease at the first visit in ALS patients.•Motor unit number index score declines…”
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Association between brain and upper cervical spinal cord atrophy assessed by MRI and disease aggressiveness in amyotrophic lateral sclerosis
Published in Neuroradiology (01-09-2023)“…Purpose To study the relative contributions of brain and upper cervical spinal cord compartmental atrophy to disease aggressiveness in amyotrophic lateral…”
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