A5084041725- Hereditary Neurological Disorders
- Muscle Physiology and Disorders
- Myasthenia Gravis and Thymoma
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- Nuclear Structure and Function
- Ion channel regulation and function
- Innovations in Medical Education
- Endoplasmic Reticulum Stress and Disease
- Botulinum Toxin and Related Neurological Disorders
- Cellular transport and secretion
- Clinical Reasoning and Diagnostic Skills
- Neurology and Historical Studies
- Biochemical Acid Research Studies
- Prion Diseases and Protein Misfolding
- Salivary Gland Tumors Diagnosis and Treatment
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Dermatological and COVID-19 studies
- Oropharyngeal Anatomy and Pathologies
- Orthopedic Surgery and Rehabilitation
- RNA Interference and Gene Delivery
Pitié-Salpêtrière Hospital
2021-2025
Sorbonne Université
2018-2025
Institut de Myologie
2017-2024
Assistance Publique – Hôpitaux de Paris
2018-2024
University College London
2023
Hospices Civils de Lyon
2023
Centre de Recherche en Myologie
2021-2023
Inserm
2021-2023
Production et analyse de données en sciences de la vie et en santé
2022
Hôpital Charles-Foix
2022
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited manifesting with ptosis, dysphagia and distal weakness. Pathologically it characterised by rimmed vacuoles intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified OPDM individuals Asian populations. None of these have been found affected non-Asian ancestry. this study we describe the identification expansions ABCD3 , ranging from 118 to 694 repeats, 35 across...
ABSTRACT Background The acquisition of practical skills is a key objective medical education. Improving knowledge and essential for early diagnosis patients suffering from neuromuscular (NM) diseases. Approach Multimedia tools have proved to be useful effective learning clinical skills. We developed video learn the NM examination, main pathological signs their semiological value. Evaluation Twenty‐seven students (group A) watched video. A control group (B, n = 15) on OMS examination. Both...
Abstract Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved children. Since 2020, the oral, selective SMN2-splicing modifier risdiplam has been restrictions evolving time. this peculiar context of lack data regarding adult patients, many questions were raised to define indications and appropriate follow-up in...
<h3>Background and objectives:</h3> The French Pompe disease registry was created in 2004, for studies of the natural course patients. It rapidly became a major tool assessing long-term efficacy enzyme replacement therapy (ERT) following market release alglucosidase-alfa. <h3>Methods:</h3> Almost 10 years after publication baseline characteristics 126 patients initial Late-Onset Disease registry, we provide here an update clinical biological features included this registry. <h3>Results:</h3>...
<h3>Background and Objectives</h3> Spinal muscular atrophy (SMA) is mainly caused by homozygous <i>SMN1</i> gene deletions on 5q13. Non-5q SMA patients' series are lacking, the diagnostic yield of next-generation sequencing (NGS) largely unknown. The aim this study was to describe clinical genetic landscape non-5q evaluate performance neuropathy panels in these disorders. <h3>Methods</h3> Description patients with followed different neuromuscular reference centers France as well London,...
Abstract Background To describe the clinical, pathological, and molecular characteristics of late‐onset (LO) dysferlinopathy patients. Methods Retrospective series patients with LO dysferlinopathy, defined by an age at onset symptoms ≥30 years, from neuromuscular centers in France International Clinical Outcome Study for (COS). Patients early‐onset (EO) (<30 years) were randomly selected COS study as a control group, North Star Assessment Dysferlinopathy (NSAD) Activity Limitation...
Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications COVID-19. The objective this study was analyze the prevalence COVID-19 among NMD and factors for its impact severity during first wave pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 May 11, in an anonymous survey carried out by expert physicians French Health Care Network Filnemus.Physicians reported 84 including: 34...
ABSTRACT Individuals affected by inherited neuromuscular diseases often present with a specific pattern of muscle weakness, which can guide clinicians in genetic investigations and variant interpretation. Nonetheless, more than 50% cases do not receive diagnosis. Oculopharyngodistal myopathy (OPDM) is an manifesting particular combination ptosis, dysphagia distal weakness. Pathologically it characterised rimmed vacuoles intranuclear inclusions on biopsy. In recent years GCC • CCG repeat...
Abstract Proximal spinal muscular atrophy (SMA) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly proximal lower limbs. While most patients carry biallelic deletion SMN1 gene (localized chromosome 5q), little known regarding without -mutation, and genetic diagnosis not always possible. Here, we report cohort 24 French with non-5q SMA from five neuromuscular centers who all, except two, had next-generation sequencing (NGS) panel, followed whole...
Preparations for clinical trials of unfolded protein response (UPR) inhibitors (such as Sephin1) that target the upregulated UPR in patients with Charcot-Marie-Tooth disease (CMT) carrying MPZ mutations are currently underway. The inclusion criteria these still being formulated. Our objective was to characterize relation between genotypes and phenotypes CMT caused by mutations, refine future trials.Clinical neurophysiological data were retrospectively collected at 11 French reference...
Abstract Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of rare diseases due to mutations in neuromuscular junction (NMJ) protein-coding genes. Until now, many encoding postsynaptic proteins as Agrin, MuSK LRP4 have been identified responsible for increasingly complex CMS phenotypes. The majority gene causes bone including CLS sclerosteosis-2 cases with has described so far. In the French cohort patients, we novel homozygous missense mutation...
Brody myopathy (BM) is a recessive condition caused by mutations in the ATP2A1 gene and usually induces impaired muscle relaxation during after exercise. Diagnosis relies on needle electromyography showing electrical silence, biopsy with decreased sarcoplasmic reticulum calcium adenosine triphosphatase activity, genetic analysis. Electrodiagnostic functional analyses are useful diagnosis of channelopathies, thus may be BM.We performed exercise tests repetitive nerve stimulation (RNS; 10...
Abstract Background: The acquisition of practical skills is one the main objectives medical education. Multimedia learning tools have proven to be effective and attractive in field education video can contribute different clinical skills. Our aim develop a on neuromuscular (NM) examination for students. Methods: We created 18-minutes showing systematic NM examination, pathological signs their semiological/topographical value. 27 students (group A) watched filled out control questionnaires...