A5013892887- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Congenital Anomalies and Fetal Surgery
- Family and Disability Support Research
- Muscle activation and electromyography studies
- Transcranial Magnetic Stimulation Studies
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Protein Kinase Regulation and GTPase Signaling
- Myasthenia Gravis and Thymoma
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Migraine and Headache Studies
- Long-Term Effects of COVID-19
- Muscle Physiology and Disorders
- Parkinson's Disease and Spinal Disorders
- Energy Harvesting in Wireless Networks
- Ophthalmology and Eye Disorders
- Nicotinic Acetylcholine Receptors Study
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- RNA Research and Splicing
- Mesenchymal stem cell research
Centre hospitalier régional de la Citadelle
2017-2025
Centre Hospitalier Universitaire de Liège
2010-2023
University of Liège
2010-2023
Laboratoire National de Référence
2019
Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease which affects 1 in 6,000–10,000 live births, caused by loss of the survival gene (SMN1). A major focus therapeutic developments has been on increasing full-length SMN protein inclusion exon 7 SMN2 transcripts, enhancing expression, stabilizing or replacing SMN1 gene. In June 2017, FDA and EMA have approved antisense oligonucleotide Nusinersen as first treatment for all SMA subtypes without age...
Abstract Background Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD caused mutations in the acid alpha-glucosidase ( GAA ) gene and treated with enzyme replacement therapy (ERT). Methods We studied clinical, brain imaging, genetic features of Belgian cohort late-onset patients N = 52), explored sensitivity different outcome measures, during longitudinal period 7 years...
Introduction Hereditary transthyretin amyloidosis (hATTRv) is a rare, genetic, adult-onset, multisystemic disorder which can affect diverse organs, including peripheral nerves, heart, kidneys, gastrointestinal tract, liver, skin and eyes. Currently, several disease-modifying treatments for hATTRv are available in Belgium the TTR stabilizer tafamidis mRNA silencers patisiran vutrisiran. Patisiran contains small interfering RNA encapsulated into lipid nanoparticle to deliver hepatocytes, main...
Background: In Duchenne muscular dystrophy (DMD), fibrosis is linked to connective tissue growth factor (CTGF) overexpression. Pamrevlumab, a fully human monoclonal antibody that inhibits CTGF activity, showed promise as DMD treatment in phase 2 trial. Objective: LELANTOS-2 ( NCT04632940 ) was global 3 study of the safety and efficacy pamrevlumab for ambulatory males 6 <12 years old with DMD. Methods: Patients were randomized 1:1 35 mg/kg every weeks 52 or placebo. All received stable...
Hereditary transthyretin-mediated (hATTR) amyloidosis, a genetic disease caused by mutations in the transthyretin gene, leads to progressive sensory and autonomic neuropathy and/or cardiomyopathy is associated with renal ophthalmologic manifestations poor prognosis.This retrospective study based on data collected from medical records of patients hATTR amyloidosis treated patisiran between 01 July 2018 February 2021. Six Belgian neuromuscular reference centers participated, covering all...
Wallerian degeneration (WD) is an inflammatory process of nerve degeneration, which occurs more rapidly in the peripheral nervous system compared with central system, resulting, respectively successful and aborted axon regeneration. In Schwann cells (SCs) macrophages, under control a network cytokines chemokines, represent main cell types involved this process. Within network, role placental growth factor (PlGF) remains totally unknown. However, properties like monocyte...
Electrical stimulation of the sub-thalamic nucleus (STN-DBS) is well established to alleviate motor fluctuations in advanced Parkinson's disease but little known about its very long-term efficacy.
A 48-year-old man had muscular weakness and restricted ability to walk since infancy, but during an asthma attack, the patient was able climb stairs, rise from floor, several kilometers. What is your diagnosis?
To validate the feasibility, reliability, external validity and sensitivity to change of Stride Velocity 95th centile (SV95C) in non-controlled environment ambulant individuals with Amyotrophic Lateral Sclerosis (ALS)
The unexpected Coronavirus disease 2019 (Covid 19) worldwide crisis induced a lockdown of the whole population in Belgium from 18th March 2020 to 4th May first and then 2nd November 1st December 2020. During this period, patients could not continue come hospital for their follow-up except emergency situations. Neuromuscular Reference Center Liege (NMRC) takes care adults child suffering neuromuscular disorders. pluridisciplinary team ensures according international standard care. In order...