A5063220316- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Cancer Genomics and Diagnostics
- Biomedical Text Mining and Ontologies
- Genomic variations and chromosomal abnormalities
- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- Genetic factors in colorectal cancer
- Neurological disorders and treatments
- Amyotrophic Lateral Sclerosis Research
- Nuclear Structure and Function
- Hereditary Neurological Disorders
- Myasthenia Gravis and Thymoma
- Sleep and Wakefulness Research
- Radiomics and Machine Learning in Medical Imaging
- Health and Medical Studies
- RNA Research and Splicing
- Meta-analysis and systematic reviews
- Muscle Physiology and Disorders
- Alcoholism and Thiamine Deficiency
- Mitochondrial Function and Pathology
- Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Neurological Complications and Syndromes
- Bone and Dental Protein Studies
- Perfectionism, Procrastination, Anxiety Studies
Inserm
2020-2025
Institut de Myologie
2020-2025
Sorbonne Université
2019-2025
Centre de Recherche en Myologie
2020-2024
Pitié-Salpêtrière Hospital
2020-2024
Assistance Publique – Hôpitaux de Paris
2023-2024
UK Dementia Research Institute
2019
Newcastle University
2014-2019
Muscular Dystrophy UK
2017
Newcastle upon Tyne Hospital
2015
Dissociative seizures are paroxysmal events resembling epilepsy or syncope with characteristic features that allow them to be distinguished from other medical conditions. We aimed compare the effectiveness of cognitive behavioural therapy (CBT) plus standardised care alone for reduction dissociative seizure frequency.In this pragmatic, parallel-arm, multicentre randomised controlled trial, we initially recruited participants at 27 neurology services in England, Scotland, and Wales. Adults...
Abstract Background The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. consenting process covers other uses, such as research, cohort finding trial readiness. Results has three-layered datasets, with European Commission-mandated elements (EU-CDEs), a set of cross-neuromuscular (NMD-CDEs) dataset disease-specific...
There are a number of sleep studies in amyotrophic lateral sclerosis (ALS), general including heterogeneous population patients. We aimed to study selected ALS patients by investigating nocturnal polysomnography (PSG) characteristics with normal respiratory function tests and preserved diaphragmatic innervation. Ninety‐two were screened percutaneous oximetry (PNO). Eleven tests, phrenic motor responses units on needle electromyography the diaphragm, but abnormal PNO, for PSG. REM was present...
Over the last decade European Union has been coordinating actions addressing various aspects of rare diseases and funded several cross-border research projects. Recently initiated biggest disease international collaborative effort by launching International Rare Diseases Research Consortium (IRDiRC). RARE-Bestpractices is one more than 100 projects on under Seventh Framework Programme for Technological Development (FP7; 2007-2013) (1). As a wide, open inclusive network, will build knowledge...
Systematic reviews (SR) synthesize evidence-based medical literature, but they involve labor-intensive manual article screening. Large language models (LLMs) can select relevant their quality and efficacy are still being determined compared to humans. We evaluated the overlap between title- abstract-based selected articles of 18 different LLMs human-selected for three SR. In SRs, 185/4,662, 122/1,741, 45/66 have been considered full-text screening by two independent reviewers. Due technical...
In the past few years there has been a political imperative driving creation of European Reference Networks as these are considered promising way to achieve equity in access most up date medical care across Europe. The right was established by directive Parliament and Council on application patients' rights cross-border healthcare. particular situation for Rare Diseases whereby sharing expertise can be regarded especially valuable, well work that is already place networking experts means...
We conducted prospective assessments in people with myotonic dystrophy type 1 (DM1) daytime sleepiness, provided targeted therapies and assessed response.Patients had overnight sleep assessments. Treatment continuous positive airway pressure (CPAP) for OSA, non-invasive ventilation (NIV) respiratory failure, modafinil excessive sleepiness were commenced.120 studied: mean age 46.9 years (SD 13.2, range 18-74), body mass index 27.9 kg/m2 (7.2, 16-53), Epworth Sleepiness Score (ESS) 13.1 (4.7,...
Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% cases genetically determined. Their rarity translates into a delayed diagnosis, with 25% patients waiting 5 to 30 years for one. It is essential raise awareness clinicians existing gene variant-specific therapeutics at time diagnosis avoid that treatment delays add up diagnostic odyssey diseases' their families.
Myotonic dystrophy type 1 (DM1) is the most frequent muscular worldwide with complex, multi-systemic, and progressively worsening symptoms. There currently no treatment for this inherited disorder research can be challenging due to rarity variability of disease. The UK Dystrophy Patient Registry a patient self-enrolling online database collecting clinical genetic information. For cross-sectional "snapshot" analysis, 556 patients confirmed diagnosis DM1 registered between May 2012 July 2016...
Abstract Background The development of e-health technologies for teleconsultation and exchange knowledge is one the core purposes European Reference Networks (ERNs), including ERN EURO-NMD rare neuromuscular diseases. Within ERNs, Clinical Patient Management System (CPMS) a web-based platform that seeks to boost active collaboration within across network, implementing data sharing. Through CPMS, it possible both discuss patient cases make patients’ available registries databases in secure...
Abstract Objectives Defining clinically relevant outcome measures for myotonic dystrophy type 1 (DM1) that can be valid and feasible different phenotypes has proven problematic. The Outcome Measures Myotonic Dystrophy (OMMYD) group proposed a battery of functional outcomes: 6‐minute walk test, 30 seconds sit stand timed 10 m walk/run nine‐hole peg test. This, however, required large‐scale investigation, Methods A cohort 213 patients enrolled in the natural history study, PhenoDM1, was...
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and patients show similar disturbances in movement coordination often experiencing walking balance difficulties, although caused different underlying pathologies. This study aims to investigate the use of a scale previously described for assessment rating (SARA) with hypothesis that it could have utility as measure disease severity risk falling. Data from 54 were pulled PHENO-DM1 natural history analysis....
We report a patient with proximal right upper limb tremor, secondary to direct peripheral nerve lesion caused by prior thoracic surgery. Electromyography demonstrated neurogenic abnormalities and tremor in muscles innervated the thoracodorsal long nerves. Somatosensory evoked potentials, transcranial magnetic stimulation, MRI of cervical spine were normal. Tremor persisted REM non-REM sleep. These findings suggest generator.
Respiratory dysfunction is a critical problem in amyotrophic lateral sclerosis (ALS). We report patient with ALS who had respiratory apraxia. A 74‐year‐old female presented progressive dysarthria and dysphagia. Clinical signs evidence of widespread denervation on electromyography (EMG) confirmed the diagnosis ALS. She no dementia. Irregular volitional inspiratory movements verbal command were noticed, contrast rhythmic automatic inspiration – Limb buco‐facial showed EMG muscles was normal,...
Abnormalities of sleep are common in myotonic dystrophy type 1 (DM1), but few previous studies have combined polysomnography with detailed clinical measures and brain imaging. In the present study, domiciliary polysomnography, symptom questionnaires cognitive evaluation were undertaken 39 DM1-affected individuals. Structural MRI was completed those without contra-indication (n = 32). Polysomnograms adequate for analysis 36 participants. Sleep efficiency reduced, architecture altered keeping...
Primary lateral sclerosis (PLS) is a very rare disease characterized by pure upper motor neuron findings. Although number of previous reports have evaluated this condition, no study has addressed the respiratory function in PLS. Six patients meeting previously proposed diagnostic criteria for PLS were submitted to tests: forced vital capacity, maximal pressures, phrenic nerve responses, needle electromyography muscles, percutaneous nocturnal oximetry (PNO) and polysomnography (two patients)....
Le séquençage à haut débit a introduit le concept de « gènes actionnables ». Ces sont liés des pathologies pour lesquelles traitements ou prises en charge spécifiques existent. Un diagnostic génétique précis est donc crucial initier interventions précoces qui peuvent prévenir retarder l’évolution maladies rares. considérablement augmenté les capacités d’analyse génétique, mais il également entraîné une augmentation demandes d’analyses, allongeant délais rendu résultats. Une priorisation...