List of works - Arnaud Lacour

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

scientific article published on 5 January 2017

An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

scientific article

Anti-JCV antibody prevalence in a French cohort of MS patients under natalizumab therapy

scientific article published on 12 April 2012

Anti-MAG antibodies in 202 patients: clinicopathological and therapeutic features

scientific article published on 25 October 2017

Bent spine syndrome as the initial symptom of late-onset Pompe disease.

scientific article published on 15 November 2016

Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.

scientific article published on 15 December 2012

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia

scientific article published on 11 April 2009

Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies

scientific article published on August 2015

Early dopasensitive Parkinsonism related to myotonic dystrophy type 2.

scientific article published in October 2008

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.

scientific article published on 20 June 2017

Effective immune restoration after immunosuppressant discontinuation in a lupus patient presenting progressive multifocal leukoencephalopathy

scientific article published on 7 October 2009

Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

scientific article published on 7 July 2016

Extensive myelitis associated with anti-NMDA receptor antibodies.

scientific article

Fat and carbohydrate metabolism during exercise in late-onset Pompe disease

scientific article published on 31 August 2012

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants

scientific article published on 19 May 2017

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

scientific article

HTLV-1-associated inflammatory myopathies: low proviral load and moderate inflammation in 13 patients from West Indies and West Africa

scientific article published on 30 January 2013

Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria.

scientific article

Home care organization impacts patient management and survival in ALS.

scientific article

IGIV for chronic inflammatory demyelinating polyneuropathies and multifocal motor neuropathies treatment in France: are daily practices in accordance with guidelines?

article

Immunohistochemical and virological features of HTLV-1-associated myosites: a study of 13 patients from West Indies and Africa.

scientific article published on 6 June 2011

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.

scientific article published in March 2017

JC-virus seroconversion in multiple sclerosis patients receiving natalizumab.

scientific article published on 26 September 2013

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

article

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review ⬇️

scientific article published on November 30, 2012

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

scientific article

Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy

scientific article

Microscopic colitis in a patient treated with duloxetine

scientific article published in September 2013

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

scientific article published on 15 July 2017

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Occurrence of vismodegib-induced cramps in the treatment of basal cell carcinoma: a prospective study in 30 patients

scientific article published in December 2017

Optical coherence tomography in clinically isolated syndrome: no evidence of subclinical retinal axonal loss.

scientific article published in November 2009

Punctate and curvilinear gadolinium enhancing lesions in the brain: a practical approach.

scientific article

Punctate pattern: A promising imaging marker for the diagnosis of natalizumab-associated PML.

scientific article

Regional difference and similarity of familial amyloidosis with polyneuropathy in France

scientific article published on June 2012

Rituximab in refractory and non‐refractory myasthenia: A retrospective multicenter study ⬇️

scientific article published on August 31, 2012

Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder

scientific article published on 2 February 2018

Sustained-released fampridine in multiple sclerosis: effects on gait parameters, arm function, fatigue, and quality of life

scientific article published on 5 June 2015

List of works by Arnaud Lacour

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

Anti-JCV antibody prevalence in a French cohort of MS patients under natalizumab therapy

Anti-MAG antibodies in 202 patients: clinicopathological and therapeutic features

Bent spine syndrome as the initial symptom of late-onset Pompe disease.

Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia

Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies

Early dopasensitive Parkinsonism related to myotonic dystrophy type 2.

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.

Effective immune restoration after immunosuppressant discontinuation in a lupus patient presenting progressive multifocal leukoencephalopathy

Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

Extensive myelitis associated with anti-NMDA receptor antibodies.

Fat and carbohydrate metabolism during exercise in late-onset Pompe disease

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

HTLV-1-associated inflammatory myopathies: low proviral load and moderate inflammation in 13 patients from West Indies and West Africa

Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria.

Home care organization impacts patient management and survival in ALS.

IGIV for chronic inflammatory demyelinating polyneuropathies and multifocal motor neuropathies treatment in France: are daily practices in accordance with guidelines?

Immunohistochemical and virological features of HTLV-1-associated myosites: a study of 13 patients from West Indies and Africa.

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.

JC-virus seroconversion in multiple sclerosis patients receiving natalizumab.

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review ⬇️

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy

Microscopic colitis in a patient treated with duloxetine

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Occurrence of vismodegib-induced cramps in the treatment of basal cell carcinoma: a prospective study in 30 patients

Optical coherence tomography in clinically isolated syndrome: no evidence of subclinical retinal axonal loss.

Punctate and curvilinear gadolinium enhancing lesions in the brain: a practical approach.

Punctate pattern: A promising imaging marker for the diagnosis of natalizumab-associated PML.

Regional difference and similarity of familial amyloidosis with polyneuropathy in France

Rituximab in refractory and non‐refractory myasthenia: A retrospective multicenter study ⬇️

Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder

Sustained-released fampridine in multiple sclerosis: effects on gait parameters, arm function, fatigue, and quality of life