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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: Short-term follow-up of anti-MAG neuropathy patients given bendamustine plus rituximab combination therapy
Short-term follow-up of anti-MAG neuropathy patients given bendamustine plus rituximab combination therapy Open
International audience
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: Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry Open
Background Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical pattern of muscle involvement, yet it encompasses a wide spectrum of phenotypes, including less common features that remain incompletely defined in the …
View article: Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (<scp>FILNEMUS</scp>) and the French National Rare Disease Database (<scp>BNDMR</scp>)
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (<span>FILNEMUS</span>) and the French National Rare Disease Database (<span>BNDMR</span>) Open
Background Diagnostic wandering and impasse are major challenges for rare disease management. This study describes the characteristics of patients with rare neuromuscular diseases (RNMDs) without a diagnosis being managed by the French nat…
View article: Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With <i>SH3TC2</i> Gene‐Related Demyelinating Peripheral Neuropathy
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With <i>SH3TC2</i> Gene‐Related Demyelinating Peripheral Neuropathy Open
Background Autosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. Methods In this nationwide observational retrospective study involving 27 French University Hospital…
View article: Description of peripheral nervous system involvement in wild-type transthyretin amyloidosis: A clinical and electrophysiological study
Description of peripheral nervous system involvement in wild-type transthyretin amyloidosis: A clinical and electrophysiological study Open
View article: Compensation of Postural Control in Demyelinating Neuropathies: Better Visual Integration in Charcot-Marie-Tooth Type 1A than in Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Compensation of Postural Control in Demyelinating Neuropathies: Better Visual Integration in Charcot-Marie-Tooth Type 1A than in Chronic Inflammatory Demyelinating Polyradiculoneuropathy Open
Introduction: Demyelinating neuropathies, such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Charcot-Marie-Tooth type 1A (CMT1A), significantly impair postural control. While both conditions affect sensory integra…
View article: Theory of Mind in Myotonic Dystrophy Type 1 Is Associated With Cortical Gyrification and White Matter Hyperintensities
Theory of Mind in Myotonic Dystrophy Type 1 Is Associated With Cortical Gyrification and White Matter Hyperintensities Open
Background Theory of Mind ( ToM ) Refers to the ability to infer other people's thoughts (Cognitive ToM ) and emotions (Affective ToM ). Myotonic Dystrophy Type 1 ( DM1 ) Patients Showed an impairment of ToM capacities, but the underlying …
View article: Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population
Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population Open
NCT04177134.
View article: Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study
Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study Open
View article: Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy
Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy Open
Importance There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) and on RNA interference (RNAi) therapeutics in general. This study presents the longest-term data to da…
View article: Clinical and Electrophysiological Characteristics of 23 French Patients With Neurolymphomatosis
Clinical and Electrophysiological Characteristics of 23 French Patients With Neurolymphomatosis Open
Introduction/Aims Neurolymphomatosis is a hematological condition defined by the direct infiltration of malignant lymphomatous cells into the peripheral nervous system. Since nerve conduction studies may disclose demyelinating features, cl…
View article: Metabolic connectivity of freezing in Parkinson's disease
Metabolic connectivity of freezing in Parkinson's disease Open
Background Freezing of gait (FoG) is among the most disabling gait disorders of Parkinson's disease. The full understanding of its mechanisms requires a network study approach. So far, FoG was mainly studied using magnetic resonance imagin…
View article: SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance Open
View article: Spinal muscular atrophy is also a disorder of spermatogenesis
Spinal muscular atrophy is also a disorder of spermatogenesis Open
Background Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such tr…
View article: Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons Open
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patie…
View article: Phenotype–genotype correlation in X‐linked Charcot‐Marie‐Tooth disease: A French cohort study
Phenotype–genotype correlation in X‐linked Charcot‐Marie‐Tooth disease: A French cohort study Open
Background and purpose X‐linked Charcot‐Marie‐Tooth disease type 1 (CMTX1) ranks as the second most prevalent hereditary neuropathy and, currently, has no definitive cure. Emerging preclinical trials offer hope for potential clinical studi…
View article: Spinal muscular atrophy is also a disorder of spermatogenesis
Spinal muscular atrophy is also a disorder of spermatogenesis Open
Background Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such tr…
View article: Postural balance and visual dependence in patients with demyelinating neuropathies differ between acquired and hereditary etiologies
Postural balance and visual dependence in patients with demyelinating neuropathies differ between acquired and hereditary etiologies 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: Treatment of myasthenia gravis in france: A retrospective claims database study (STAMINA)
Treatment of myasthenia gravis in france: A retrospective claims database study (STAMINA) Open
View article: Enhancing Differential Diagnosis Related to Oxidative Stress, Nitrous Oxide, and Nutrition by Rapid Plasma Homocysteine Measurement
Enhancing Differential Diagnosis Related to Oxidative Stress, Nitrous Oxide, and Nutrition by Rapid Plasma Homocysteine Measurement Open
Background: Historically used as a marker for inherited disorders, the current interest in plasma homocysteine measurement lies in its ability to provide valuable information about the metabolic and nutritional status of patients. Specific…
View article: Action : l’interaction cognition-mouvement chez l’Homme comme biomarqueur diagnostique et critère d’évaluation dans les maladies neurologiques
Action : l’interaction cognition-mouvement chez l’Homme comme biomarqueur diagnostique et critère d’évaluation dans les maladies neurologiques Open
My area of expertise focuses on the study of biomarkers, particularly those reflecting the interaction between gait and cognition, such as clinical data, movement quantification, functional assessment (connected tools), imaging or neurophy…
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: Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey
Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey Open
Non-dystrophic myotonias (NDM) are disabling genetic diseases that impact quality of life. To reduce the impact of NDM, patients develop coping strategies such as lifestyle adaptation and avoiding key triggers. To understand how myotonia a…
View article: Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis Open
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confron…
View article: RFC1: Motifs and phenotypes
RFC1: Motifs and 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: Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A
Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A Open