Institut I-Motion
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Pregnancy in congenital myasthenic syndrome.
Journal of neurology Mar, 2013 | Pubmed ID: 23108489
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients.
Neuromuscular disorders : NMD Feb, 2013 | Pubmed ID: 23219352
Distinctive serum miRNA profile in mouse models of striated muscular pathologies.
PloS one , 2013 | Pubmed ID: 23418438
Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trial.
Neuromuscular disorders : NMD Jan, 2014 | Pubmed ID: 24321374
Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy.
Neuromuscular disorders : NMD Jul, 2014 | Pubmed ID: 24813925
Four-year longitudinal study of clinical and functional endpoints in sporadic inclusion body myositis: implications for therapeutic trials.
Neuromuscular disorders : NMD Jul, 2014 | Pubmed ID: 24857365
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Neuromuscular disorders : NMD Nov, 2014 | Pubmed ID: 25070542
Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients.
Molecular therapy : the journal of the American Society of Gene Therapy Nov, 2014 | Pubmed ID: 25200009
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study.
The Lancet. Neurology Oct, 2014 | Pubmed ID: 25209738
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.
Orphanet journal of rare diseases Nov, 2014 | Pubmed ID: 25425325
Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD May, 2015 | Pubmed ID: 25791581
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.
Human molecular genetics Sep, 2015 | Pubmed ID: 26060189
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.
JIMD reports , 2016 | Pubmed ID: 26920903
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment.
PloS one , 2016 | Pubmed ID: 27271157
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Neuromuscular disorders : NMD 10, 2016 | Pubmed ID: 27528495
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
American journal of human genetics 09, 2016 | Pubmed ID: 27569547
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.
Journal of neuromuscular diseases Sep, 2015 | Pubmed ID: 27858743
Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.
Cell reports 06, 2017 | Pubmed ID: 28658620
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy.
Nature communications 07, 2017 | Pubmed ID: 28742067
DMD and West syndrome.
Neuromuscular disorders : NMD Oct, 2017 | Pubmed ID: 28802771
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.
Nature communications 11, 2017 | Pubmed ID: 29192144
High urinary ferritin reflects myoglobin iron evacuation in DMD patients.
Neuromuscular disorders : NMD 07, 2018 | Pubmed ID: 29776718
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Neurology Oct, 2018 | Pubmed ID: 30158155
X-linked myotubular myopathy: A prospective international natural history study.
Neurology Apr, 2019 | Pubmed ID: 30902907
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