Laurent Servais

Publications

• X-linked Myotubular Myopathy: A Prospective International Natural History Study
  Neurology. Apr, 2019  |   Pubmed ID: 30902907
• Nusinersen in Patients Older Than 7 Months with Spinal Muscular Atrophy Type 1: A Cohort Study
  Neurology. Oct, 2018  |   Pubmed ID: 30158155
• High Urinary Ferritin Reflects Myoglobin Iron Evacuation in DMD Patients
  Neuromuscular Disorders : NMD. 07, 2018  |   Pubmed ID: 29776718
• Downregulation of Myostatin Pathway in Neuromuscular Diseases May Explain Challenges of Anti-myostatin Therapeutic Approaches
  Nature Communications. 11, 2017  |   Pubmed ID: 29192144
• DMD and West Syndrome
  Neuromuscular Disorders : NMD. Oct, 2017  |   Pubmed ID: 28802771
• Long-term Microdystrophin Gene Therapy is Effective in a Canine Model of Duchenne Muscular Dystrophy
  Nature Communications. 07, 2017  |   Pubmed ID: 28742067
• 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
• Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
  American Journal of Human Genetics. 09, 2016  |   Pubmed ID: 27569547
• Mild Clinical Presentation in KLHL40-related Nemaline Myopathy (NEM 8)
  Neuromuscular Disorders : NMD. 10, 2016  |   Pubmed ID: 27528495
• 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
• Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants
  JIMD Reports. 2016  |   Pubmed ID: 26920903
• Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping Have Severe Phenotype
  Journal of Neuromuscular Diseases. Sep, 2015  |   Pubmed ID: 27858743
• 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
• 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
• Severe Dystonia, Cerebellar Atrophy, and Cardiomyopathy Likely Caused by a Missense Mutation in TOR1AIP1
  Orphanet Journal of Rare Diseases. Nov, 2014  |   Pubmed ID: 25425325
• 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
• 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
• 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
• 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
• Proteomics Profiling of Urine Reveals Specific Titin Fragments As Biomarkers of Duchenne Muscular Dystrophy
  Neuromuscular Disorders : NMD. Jul, 2014  |   Pubmed ID: 24813925
• 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
• Distinctive Serum MiRNA Profile in Mouse Models of Striated Muscular Pathologies
  PloS One. 2013  |   Pubmed ID: 23418438
• Innovative Methods to Assess Upper Limb Strength and Function in Non-ambulant Duchenne Patients
  Neuromuscular Disorders : NMD. Feb, 2013  |   Pubmed ID: 23219352
• Pregnancy in Congenital Myasthenic Syndrome
  Journal of Neurology. Mar, 2013  |   Pubmed ID: 23108489