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List of works by Philippe Corcia

1H-NMR-based metabolomic profiling of CSF in early amyotrophic lateral sclerosis

scientific article

A clustering of conjugal amyotrophic lateral sclerosis in southeastern France.

scientific article

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

scientific article published on 17 June 2015

A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis

scientific article published on 17 April 2020

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

A novel p.E121G SOD1 mutation in slowly progressive form of amyotrophic lateral sclerosis induces cytoplasmic aggregates in cultured motor neurons and reduces cell viability

scientific article

A pharmaco-metabolomics approach in a clinical trial of ALS: Identification of predictive markers of progression.

scientific article published on 5 June 2018

A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.

scientific article published on 28 May 2013

ALS and mercury intoxication: A relationship?

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

article

Adjunctive perampanel in refractory epilepsy: Experience at tertiary epilepsy care center in Tours

scientific article published on 6 July 2016

Advances in disease-modifying pharmacotherapies for the treatment of amyotrophic lateral sclerosis

scientific article published on 03 April 2020

Amyotrophic lateral sclerosis and the clinical potential of dexpramipexole ⬇️

scientific article published on August 27, 2012

Amyotrophic lateral sclerosis: a hormonal condition?

scientific article published on 08 August 2012

An UPLC-MSMS method to measure plasma homocysteine concentration.

scientific article published in June 2017

Are Carpal Tunnel Syndrome and Regional Degenerative Osteoarthritis Linked? Results of a Case-Control Study

scientific article published in March 2018

Are the clinical classifications for psychogenic nonepileptic seizures reliable?

scientific article published on 27 October 2017

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

scientific article

Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS

article

Benign lower limb amyotrophy due to TARDBP mutation or post-polio syndrome?

scientific article

Blood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral Sclerosis

scientific article

Brait-Fahn-Schwarz disease: the missing link between ALS and Parkinson's disease

scientific article published on 15 August 2014

Breast cancer and motor neuron disease: Clinical study of seven cases

article

CADASIL and ALS: a link?

scientific article published in August 2010

Causes of death in a post-mortem series of ALS patients

scientific article published in January 2008

Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

Co-occurrence of MS and ALS: a clue in favor of common pathophysiological findings?

scientific article published on 03 September 2018

Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family

scientific article published on 11 August 2011

Combined Metabolomics and Transcriptomics Approaches to Assess the IL-6 Blockade as a Therapeutic of ALS: Deleterious Alteration of Lipid Metabolism

scientific article published on 21 July 2016

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Correction: 1H-NMR-Based Metabolomic Profiling of CSF in Early Amyotrophic Lateral Sclerosis.

scientific article published on 10 November 2010

Could Conservative Iron Chelation Lead to Neuroprotection in Amyotrophic Lateral Sclerosis? ⬇️

scientific article published on 29 December 2017

Current view and perspectives in amyotrophic lateral sclerosis

scientific article published on February 2017

Defining survival as an outcome measure in amyotrophic lateral sclerosis.

scientific article

Development of monoclonal antibodies to human kallikrein-related peptidase 6 (KLK6) and their use in an immunofluorometric assay for free KLK6.

scientific article published in September 2014

Development of permanent brain damage after subacute encephalopathy with seizures in alcoholics

scientific article published on 25 October 2018

Disruption of TCA Cycle and Glutamate Metabolism Identified by Metabolomics in an In Vitro Model of Amyotrophic Lateral Sclerosis

scientific article published on 14 December 2015

Effect of familial clustering in the genetic screening of 235 French ALS families

scientific article published on 06 January 2021

Effect of the oligodendrocyte myelin glycoprotein (OMgp) on the expansion and neuronal differentiation of rat neural stem cells

scientific article

Elevated Serum Ferritin Is Associated with Reduced Survival in Amyotrophic Lateral Sclerosis ⬇️

scientific article published on September 14, 2012

Emergent EEG in clinical practice

scientific article published on 20 August 2007

Environmental factors in ALS

scientific article

Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment

scientific article published in August 2017

Functional Outcome of Hemorrhagic Transformation after Thrombolysis for Ischemic Stroke: A Prospective Study

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

scientific article published on 12 January 2013

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

scientific article published on 25 January 2012

How Can a Ketogenic Diet Improve Motor Function?

scientific article published on 26 January 2018

Ictal bradycardia followed by cardiac asystole: a case report

scientific article published on 01 December 2002

Impaired glucose tolerance in patients with amyotrophic lateral sclerosis

scientific article published in January 2010

Inhibition of Pathogenic Mutant SOD1 Aggregation in Cultured Motor Neuronal Cells by Prevention of Its SUMOylation on Lysine 75.

scientific article published on 26 November 2015

Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis

scientific article published on 12 July 2017

Initial evaluation in healthy humans of [18F]DPA-714, a potential PET biomarker for neuroinflammation

scientific article

Iron metabolism disturbance in a French cohort of ALS patients

scientific article

Is there a paraneoplastic ALS?

scientific article published on 06 October 2014

July 2017 ENCALS statement on edaravone

scientific article

Malnutrition at the time of diagnosis is associated with a shorter disease duration in ALS.

scientific article published on 31 July 2010

Management and therapeutic perspectives in amyotrophic lateral sclerosis

scientific article published on 20 September 2016

Management of amyotrophic lateral sclerosis

scientific article published on January 2008

Metabolomics Biomarkers: A Strategy Toward Therapeutics Improvement in ALS

Metabolomics in Cerebrospinal Fluid of Patients with Amyotrophic Lateral Sclerosis: An Untargeted Approach via High-Resolution Mass Spectrometry

Molecular imaging of microglial activation in amyotrophic lateral sclerosis

scientific article

Mortality in myotonic dystrophy patients in the area of prophylactic pacing devices

scientific article

Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.

scientific article published on 13 July 2017

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis

scientific article published on 01 October 2008

N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation

scientific article published in June 2003

NSC-34 Motor Neuron-Like Cells Are Unsuitable as Experimental Model for Glutamate-Mediated Excitotoxicity.

scientific article published on 9 May 2016

Nerve Biopsy Is Still Useful in Some Inherited Neuropathies

scientific article published on 29 December 2017

New therapy options for amyotrophic lateral sclerosis

scientific article published on 16 July 2013

Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.

scientific article

Occurrence of eye movement disorders in motor neuron disease

article by Emilie Beaufils et al published 25 November 2011 in Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism

scientific article published on 2 September 2016

Panel of Oxidative Stress and Inflammatory Biomarkers in ALS: A Pilot Study.

scientific article published on 24 October 2016

Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease

scientific article

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

scientific article published on 01 March 2018

Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees

Progression in ALS is not linear but is curvilinear

scientific article published on 8 June 2010

Protein SUMOylation, an emerging pathway in amyotrophic lateral sclerosis

scientific article published on 04 February 2013

Pseudo spastic gait can reveal a Stiff Leg Syndrome (SLS)

Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene

article

Pure cerebellar ataxia linked to large C9orf72 repeat expansion

Reconsidering the causality of TIA1 mutations in ALS.

scientific article published on 13 December 2017

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials

article

Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis

scientific article

Sleep disturbances in variant of Creutzfeldt-Jakob disease

scientific article

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

scientific article published on 28 January 2022

The Metabolic Disturbances of Motoneurons Exposed to Glutamate.

scientific article published on 12 February 2018

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis

article

The Relevancy of Data Regarding the Metabolism of Iron to Our Understanding of Deregulated Mechanisms in ALS; Hypotheses and Pitfalls

The evolution of infrahissian conduction time in myotonic dystrophy patients: clinical implications ⬇️

scientific article published on October 29, 2011

The high frequency of restless legs syndrome in patients with amyotrophic lateral sclerosis

scientific article published on 11 February 2011

The importance of the SMN genes in the genetics of sporadic ALS.

scientific article

Therapeutic options and management of polyneuropathy associated with anti-MAG antibodies

scientific article

Typical bulbar ALS can be linked to GARS mutation

scientific article published on 20 January 2019

Untargeted 1H-NMR metabolomics in CSF: toward a diagnostic biomarker for motor neuron disease

scientific article published on 28 February 2014

Value of nerve biopsy in patients with latent malignant hemopathy and peripheral neuropathy: a case series

scientific article

Vitamin D is Not a Protective Factor in ALS.

scientific article published on 20 June 2015

Wildtype motoneurons, ALS-Linked SOD1 mutation and glutamate profoundly modify astrocyte metabolism and lactate shuttling.

scientific article published on 31 January 2017

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