A5089567319- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- RNA modifications and cancer
- Muscle Physiology and Disorders
- Sleep and related disorders
- Cerebral Palsy and Movement Disorders
- Obstructive Sleep Apnea Research
- Sleep and Wakefulness Research
- Genetics and Neurodevelopmental Disorders
- Infant Development and Preterm Care
- Family and Disability Support Research
- Autism Spectrum Disorder Research
- Genetic Neurodegenerative Diseases
- Peripheral Neuropathies and Disorders
- Muscle activation and electromyography studies
- Cognitive Abilities and Testing
- Impact of Technology on Adolescents
- Ion Transport and Channel Regulation
- Endoplasmic Reticulum Stress and Disease
- Education, Achievement, and Giftedness
- Problem and Project Based Learning
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Transcranial Magnetic Stimulation Studies
- Medical Imaging and Analysis
Centre Hospitalier Régional Universitaire de Brest
2016-2025
Inserm
2016-2025
Laboratoire de Traitement de l'Information Médicale
2019-2025
Université Paris-Saclay
2025
Bicêtre Hospital
2025
Assistance Publique – Hôpitaux de Paris
2025
Deleted Institution
2020-2023
Institut Mines-Télécom
2020
Hospices Civils de Lyon
2018
Université de Bretagne Occidentale
2016
To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1).Patients SMA1 were treated by intrathecal injections as a part Expanded Access Program (EAP; NCT02865109). We evaluated before treatment initiation (M0) at 2 (M2) 6 (M6) after initiation. Survival, respiratory, nutritional data collected. Motor function was assessed modified Hammersmith Infant Neurologic Examination Part (HINE-2) physiotherapist scales...
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells spinal cord. Nusinersen has been covered public healthcare in France since May 2017. The aim this article to report results after 1 year treatment with intrathecal nusinersen children SMA types and 2 France. Comparisons between onset (T0) (Y1) were made terms motor function need for nutritional ventilatory support. Motor development...
Clinical phenotype and course of individuals with 4 copies the SMN2 gene are insufficiently described, presymptomatic treatment remains controversial. This is a cohort study that analyzed data from SMA patients zero SMN1 collected in "Registre France" to describe epidemiology, clinical presentation, course. A total 140 1,112 carried (16% those available copy number). The median age at onset was 3.5 years (6 months-20 years), follow-up 32 years. Twelve (8.6%) did not walk independently...
Abstract Background Classical infantile‐onset Pompe disease (IOPD) is the most severe form of disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long‐term outcomes. Methods We retrospectively analyzed outcomes classical IOPD patients diagnosed in France between 2004 and 2020. Results Sixty‐four were identified. At diagnosis (median age 4 months) all had cardiomyopathy hypotonia (57 62 patients, 92%). ERT was initiated 50 (78%)...
An important bottleneck for non-viral gene transfer commonly relates to translocation of nucleic acids into the nuclear compartment target cells. So-called 3NFs are optimized short nucleotide sequences able interact with transcription factor κB (NF-κB), which can enhance import plasmid DNA (pDNA) carrying such motifs. In this work, we first designed a consistent set six pDNAs featuring common backbone and only varying in their 3NF sequences. These constructions were then transfected under...
Purpose Technical solutions could facilitate activities and participation in individuals with disabilities. For the development of solutions, hackathons are a method interdisciplinary collaboration. hackathon, definition pain points that require is crucial. We aimed to determine engineers' preferences expectations regarding point qualities.Methods used collaborative approach involving disability, families, healthcare professionals for use by engineering students during disability Hackathon....