List of works - Laurent Servais

"The Times They Are a-Changin'." In reply to El-Zaidy et al.: AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort

scientific article published on 01 January 2019

A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment.

scientific article

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

scientific article published on 27 February 2016

An integrated modelling methodology for estimating the prevalence of centronuclear myopathy

scientific article published on 01 July 2018

Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin

scientific article

Apparently Severe Late-Onset Neutropenia in Two Very Low Birth Weight Infants ⬇️

scientific article published on November 1, 2001

Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?

scientific article published on 15 December 2017

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

scientific article published on 02 October 2019

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

scientific article published on 28 June 2014

DMD and West syndrome

scientific article published on 19 July 2017

Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

scientific article published on 22 March 2018

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

scientific article published on 30 November 2017

Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.

scientific article published in June 2017

Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy.

scientific article published on 8 June 2016

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

scientific article published on 9 May 2016

Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy

scientific article published on 02 February 2015

Factors influencing the determination of arousal thresholds in infants - a review.

scientific article

Four-year longitudinal study of clinical and functional endpoints in sporadic inclusion body myositis: implications for therapeutic trials

scientific article published on 4 May 2014

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

scientific article published on 16 January 2014

Hearing impairment in patients with myotonic dystrophy type 2.

scientific article published on 17 January 2018

High urinary ferritin reflects myoglobin iron evacuation in DMD patients

scientific article published in July 2018

Home-Based Monitor for Gait and Activity Analysis

scientific article published on 08 August 2019

Images in clinical medicine. Muscular dystrophy

scientific article published in December 2014

Improved Muscular Weakness During Asthma Exacerbation

scientific article published on 01 March 2017

Inactivation of calcium-binding protein genes induces 160 Hz oscillations in the cerebellar cortex of alert mice.

scientific article published in January 2004

Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients

scientific article published on 05 December 2012

Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy.

scientific article

Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy.

scientific article published on 17 February 2016

Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins

scientific article published on 23 May 2017

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

scientific article published on 29 July 2016

Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease.

scientific article published on 27 June 2016

Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study

scientific article published on 24 December 2020

Neuromuscular diseases: Diagnosis and management.

scientific article published on 28 November 2017

Newborn screening for SMA in Southern Belgium

scientific article published on 15 February 2019

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.

scientific article published on September 2015

Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy

scientific article published on 21 March 2020

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study

scientific article published on 29 August 2018

Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps

scientific article published on 17 September 2018

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

scientific article published in November 2017

Odalisque's Position as a Geste Antagoniste in a Variant Phenotype of Ataxia-Telangiectasia

scientific article published on 07 May 2019

Oligo-astrocytoma in LZTR1-related Noonan syndrome

scientific article published on 19 January 2019

Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trial

scientific article published on 11 September 2013

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

scientific article published on 26 July 2018

Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy.

scientific article

Quantitative NMRI and NMRS identify augmented disease progression after loss of ambulation in forearms of boys with Duchenne muscular dystrophy.

scientific article

Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy

scientific article published on 15 October 2019

RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect.

scientific article published on 21 December 2017

Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1.

scientific article

Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study

scientific article published on 19 February 2019

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

scientific article published on 11 October 2018

Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

scientific article published on 04 December 2019

Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype

scientific article published on 01 March 2017

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

scientific article published on 3 November 2015

Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial

scientific article

Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial

scientific article

Very low residual dystrophin quantity is associated with milder dystrophinopathy

scientific article published on 07 November 2020

Video games to measure outcome for children with neuromuscular disorders

scientific article published on 08 April 2019

X-linked myotubular myopathy: A prospective international natural history study

scientific article published on 22 March 2019

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]

scientific article published on 01 February 2013

[Outcomes measures used in clinical trials in neuromuscular diseases]

scientific article published on 12 November 2018

List of works by Laurent Servais

"The Times They Are a-Changin'." In reply to El-Zaidy et al.: AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort

A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment.

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

An integrated modelling methodology for estimating the prevalence of centronuclear myopathy

Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin

Apparently Severe Late-Onset Neutropenia in Two Very Low Birth Weight Infants ⬇️

Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

DMD and West syndrome

Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.

Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy.

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy

Factors influencing the determination of arousal thresholds in infants - a review.

Four-year longitudinal study of clinical and functional endpoints in sporadic inclusion body myositis: implications for therapeutic trials

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Hearing impairment in patients with myotonic dystrophy type 2.

High urinary ferritin reflects myoglobin iron evacuation in DMD patients

Home-Based Monitor for Gait and Activity Analysis

Images in clinical medicine. Muscular dystrophy

Improved Muscular Weakness During Asthma Exacerbation

Inactivation of calcium-binding protein genes induces 160 Hz oscillations in the cerebellar cortex of alert mice.

Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients

Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy.

Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy.

Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease.

Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study

Neuromuscular diseases: Diagnosis and management.

Newborn screening for SMA in Southern Belgium

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.

Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study

Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Odalisque's Position as a Geste Antagoniste in a Variant Phenotype of Ataxia-Telangiectasia

Oligo-astrocytoma in LZTR1-related Noonan syndrome

Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trial

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy.

Quantitative NMRI and NMRS identify augmented disease progression after loss of ambulation in forearms of boys with Duchenne muscular dystrophy.

Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy

RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect.

Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1.

Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial

Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial

Very low residual dystrophin quantity is associated with milder dystrophinopathy

Video games to measure outcome for children with neuromuscular disorders

X-linked myotubular myopathy: A prospective international natural history study

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]

[Outcomes measures used in clinical trials in neuromuscular diseases]