É. Lagrange
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View article: Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database Open
View article: Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study
Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study Open
Background and Objectives Mortality in Late‐Onset Pompe Disease (LOPD) has been associated with the rapid progression of respiratory and motor impairment. However, an in‐depth approach to the exact causes of death in these patients is stil…
View article: The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (<scp>GSD0B</scp>)
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (<span>GSD0B</span>) Open
Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Mus…
View article: Du bon usage aux contraintes d’approvisionnement, 25 années d’utilisation des immunoglobulines polyvalentes
Du bon usage aux contraintes d’approvisionnement, 25 années d’utilisation des immunoglobulines polyvalentes Open
View article: Use of assistive technology to assess distal motor function in subjects with neuromuscular disease
Use of assistive technology to assess distal motor function in subjects with neuromuscular disease Open
Among the 32 items of the Motor Function Measure scale, 3 concern the assessment of hand function on a paper-based support. Their characteristics make it possible to envisage the use of a tablet instead of the original paper-based support …
View article: Brain health: Pathway to primary prevention of neurodegenerative disorders of environmental origin
Brain health: Pathway to primary prevention of neurodegenerative disorders of environmental origin Open
View article: <i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort Open
Background Myosin heavy chain 7 ( MYH7 )-related myopathies ( MYH7 -RMs) are a group of muscle disorders linked to pathogenic variants in the MYH7 gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skelet…
View article: Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry
Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry Open
Background and purpose Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha‐glucosidase. Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its fr…
View article: Cramp–Fasciculation Syndrome Associated with Natural and Added Chemicals in Popular Food Items
Cramp–Fasciculation Syndrome Associated with Natural and Added Chemicals in Popular Food Items Open
Cramp–fasciculation syndrome (CFS) is a rare and benign neuromuscular disorder that may initially masquerade as motor neuron disease/amyotrophic lateral sclerosis. While CFS may have a familial disposition, we report on cases associated wi…
View article: Use of assistive technology to assess distal motor function in subjects with neuromuscular disease
Use of assistive technology to assess distal motor function in subjects with neuromuscular disease Open
Purpose Among the 32 items of the Motor Function Measure scale, 3 concern the assessment of hand function on a paper-based support. Their characteristics make it possible to envisage the use of a tablet instead of the original paper-based …
View article: Corrected speciation and gyromitrin content of false morels linked to ALS patients with mostly slow-acetylator phenotypes
Corrected speciation and gyromitrin content of false morels linked to ALS patients with mostly slow-acetylator phenotypes Open
View article: Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study
Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study Open
Introduction Late‐onset Pompe disease (LOPD) is characterized by a progressive myopathy resulting from a deficiency of acid α‐glucosidase enzyme activity. Enzyme replacement therapy has been shown to be effective, but long‐term treatment r…
View article: Titin copy number variations associated with dominant inherited phenotypes
Titin copy number variations associated with dominant inherited phenotypes Open
Background Titinopathies are caused by mutations in the titin gene ( TTN ). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are very complex neuromuscular pathologies due to the…
View article: Characteristics of Patients With Late-Onset Pompe Disease in France
Characteristics of Patients With Late-Onset Pompe Disease in France Open
This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater a…
View article: Clinical features and maternal and fetal outcomes in women with Guillain-Barré syndrome in pregnancy
Clinical features and maternal and fetal outcomes in women with Guillain-Barré syndrome in pregnancy Open
View article: Early-onset, conjugal, twin-discordant, and clusters of sporadic ALS: Pathway to discovery of etiology via lifetime exposome research
Early-onset, conjugal, twin-discordant, and clusters of sporadic ALS: Pathway to discovery of etiology via lifetime exposome research Open
The identity and role of environmental factors in the etiology of sporadic amyotrophic lateral sclerosis (sALS) is poorly understood outside of three former high-incidence foci of Western Pacific ALS and a hotspot of sALS in the French Alp…
View article: Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study Open
Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv treatments are availabl…
View article: Correction: Lagrange, E.; Vernoux, J.-P. Warning on False or True Morels and Button Mushrooms with Potential Toxicity Linked to Hydrazinic Toxins: An Update. Toxins 2020, 12, 482
Correction: Lagrange, E.; Vernoux, J.-P. Warning on False or True Morels and Button Mushrooms with Potential Toxicity Linked to Hydrazinic Toxins: An Update. Toxins 2020, 12, 482 Open
The authors wish to make corrections to their paper [...]
View article: Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy Open
Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopatho…
View article: La crédibilité de l’expertise scientifique. Enjeux et recommandations
La crédibilité de l’expertise scientifique. Enjeux et recommandations Open
View article: Novel dominant distal titinopathy phenotype associated with copy number variation
Novel dominant distal titinopathy phenotype associated with copy number variation Open
The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete…
View article: CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell–targeted therapies
CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell–targeted therapies Open
CANOMAD (chronic ataxic neuropathy, ophthalmoplegia, immunoglobulin M [IgM] paraprotein, cold agglutinins, and disialosyl antibodies) is a rare syndrome characterized by chronic neuropathy with sensory ataxia, ocular, and/or bulbar motor w…
View article: Warning on False or True Morels and Button Mushrooms with Potential Toxicity Linked to Hydrazinic Toxins: An Update
Warning on False or True Morels and Button Mushrooms with Potential Toxicity Linked to Hydrazinic Toxins: An Update Open
Recently, consumption of the gyromitrin-containing neurotoxic mushroom Gyromitra sp. (false morel), as gourmet food was hypothesized to play a role in sporadic amyotrophic lateral sclerosis genesis. The present review analyses recent data …
View article: Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort
Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort Open
Although our sample size is rather limited, the earlier AoO in index cases and their siblings compared to the parental generation may suggest an anticipation. Reasons for predominance of female transmission are unclear, but the hypothesis …
View article: Health risk assessment related to pinnatoxins in French shellfish
Health risk assessment related to pinnatoxins in French shellfish Open
View article: Pinnatoxins’ Deleterious Effects on Cholinergic Networks: From Experimental Models to Human Health
Pinnatoxins’ Deleterious Effects on Cholinergic Networks: From Experimental Models to Human Health Open
Pinnatoxins (PnTXs) are emerging neurotoxins that were discovered about 30 years ago. They are solely produced by the marine dinoflagellate Vulcanodinium rugosum, and may be transferred into the food chain, as they have been found in vario…
View article: Project of playul and automatized assessment of motor function in patients with NMD: MFM-Digital study
Project of playul and automatized assessment of motor function in patients with NMD: MFM-Digital study Open
The Motor Function Measure (MFM) is a validated and sensitive tool composed of 32 items, applicable to ambulant and non ambulant patients with neuromuscular disorders (NMD). It is currently used as outcome measure in clinical studies.
By …
View article: Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together
Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together Open