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List of works by Patrick Vourc'H

1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

scientific article published on 9 April 2013

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

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 decrease in blood cholesterol after gastrostomy could impact survival in ALS.

scientific article published on 19 April 2017

A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

scientific article

A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation

scientific article published on 12 January 2011

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 prospective study of estimated glomerular filtration rate and outcomes in patients with atrial fibrillation: the Loire Valley Atrial Fibrillation Project.

scientific article published in June 2014

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

scientific article published on 28 May 2013

A role for SUMOylation in the Formation and Cellular Localization of TDP-43 Aggregates in Amyotrophic Lateral Sclerosis

scientific article published on 15 November 2019

ANNALS EXPRESS: Post-hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

scientific article published in January 2018

APOE ε4 allele is associated with an increased risk of bulbar-onset amyotrophic lateral sclerosis in men

scientific article published on 20 January 2011

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

scientific article published on 19 May 2020

Absence of the OPTN mutation in a patient with ALS and familial primary open angle glaucoma

scientific article published on 17 August 2011

Adult reserve stem cells and their potential for tissue engineering

scientific article published on January 2004

Advances in cellular models to explore the pathophysiology of amyotrophic lateral sclerosis.

scientific article

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

scientific article published on 03 April 2020

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

scientific article

Association of a paraneoplastic motor neuron disease with anti-Ri antibodies and a novel SOD1 I18del mutation.

scientific article

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

article

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level

scientific article published on 9 July 2009

Aβ1-42 and Tau as Potential Biomarkers for Diagnosis and Prognosis of Amyotrophic Lateral Sclerosis

scientific article published on 21 April 2020

Behavior and serotonergic disorders in rats exposed prenatally to valproate: a model for autism

scientific article published on 28 December 2009

Behavioral, Hormonal, Inflammatory, and Metabolic Effects Associated with FGF21-Pathway Activation in an ALS Mouse Model

scientific article published on 06 October 2020

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

scientific article

Biological follow-up in amyotrophic lateral sclerosis: decrease in creatinine levels and increase in ferritin levels predict poor prognosis.

scientific article published on 22 June 2015

C-reactive protein: A promising biomarker in ALS?

scientific article published on 7 August 2017

CADASIL and ALS: a link?

scientific article published in August 2010

Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.

scientific article published on 10 January 2018

Changes in glomerular filtration rate and outcomes in patients with atrial fibrillation

scientific article published on 30 December 2017

Chronic demyelinating polyneuropathy and B6 hypervitaminosis

scientific article published on 2 June 2010

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

preprint

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

scholarly article

Conditioned Medium from Cells Overexpressing TDP-43 Alters the Metabolome of Recipient Cells

scientific article published on 29 September 2020

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

scientific article published on 10 November 2010

Could a citrus keep the haematologist away?

scientific article published on 20 March 2014

Deep sequencing is an appropriate tool for the selection of unique Hepatitis C virus (HCV) variants after single genomic amplification

scientific article

Deficit in BDNF does not increase vulnerability to stress but dampens antidepressant-like effects in the unpredictable chronic mild stress.

scientific article

Deficits in information transfer between hospital-based and primary-care physicians, the case of kidney disease: a cross-sectional study.

scientific article published on 17 February 2015

Determination of thresholds values for platelet serotonin and urinary 5-HIAA concentrations for the biological diagnosis of digestive neuroendocrine tumors

scientific article published on 01 April 2019

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

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

Ductal adenocarcinoma of the prostate: Clinical and biological profiles

scientific article published on 12 July 2017

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

scientific article published on 06 January 2021

Effect of neurturin on multipotent cells isolated from the adult skeletal muscle.

scientific article

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

scientific article

Erratum to "Validation of amino-acids measurement in dried blood spot by FIA-MS/MS for PKU management" [Clin. Biochem. 49 (2016) 1047-1050]

scientific article published on 02 May 2017

Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder.

scientific article published in March 2002

Ferritin and LDL-cholesterol as biomarkers of fat-free mass loss in ALS

scientific article published on 03 April 2019

Fetal exposure to teratogens: evidence of genes involved in autism

scientific article

Further development of biomarkers in amyotrophic lateral sclerosis.

scientific article

GC-MS-based urine metabolic profiling of autism spectrum disorders.

scientific article published on 10 April 2013

Genetics of amyotrophic lateral sclerosis

article

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

scientific article published on 25 July 2016

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

scientific article

Hemin decreases cardiac oxidative stress and fibrosis in a rat model of systemic hypertension via PI3K/Akt signalling

scientific article published on 15 March 2011

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

scientific article published on 25 January 2012

Identification of metabolic pathway disturbances using multimodal metabolomics in autistic disorders in a Middle Eastern population

scientific article published on 29 January 2018

Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders

scientific article published on 29 June 2019

Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.

scientific article

In ALS, a mutation could be worth two steps

scientific article published on 01 December 2018

Influence of MMP-2 and MMP-9 promoter polymorphisms on gene expression and clinical outcome of non-small cell lung cancer.

scientific article

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

Iron metabolism disturbance in a French cohort of ALS patients

scientific article

Isolation and characterization of cells with neurogenic potential from adult skeletal muscle.

scientific article published in May 2004

LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability

scientific article published on 27 December 2018

LIMK2-1, a new isoform of Human-LIMK2, regulates actin cytoskeleton remodeling via a different signaling pathway than its two homologs, LIMK2a/2b

scientific article published on 06 December 2018

LIMK2d, a truncated isoform of Lim kinase 2 regulates neurite growth in absence of the LIM kinase domain

scientific article published on 3 March 2012

Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS.

scientific article published on 15 December 2017

Low IDL-B and high LDL-1 subfraction levels in serum of ALS patients

scientific article published on 18 July 2017

Low specificity of urinary 3-methoxytyramine in screening of dopamine-secreting pheochromocytomas and paragangliomas

scientific article published on 18 May 2016

Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms

scientific article published on 24 January 2019

Metabolomics in amyotrophic lateral sclerosis: how far can it take us?

scientific article published on 29 January 2016

Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis

scientific article published on 11 May 2020

Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder.

scientific article published in February 2003

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

Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder

scientific article

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

scientific article published on 11 September 2015

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

scientific article published on 01 October 2008

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

scientific article published on 9 May 2016

Neuronal differentiation of stem cells isolated from adult muscle.

scientific article published in September 2002

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

scientific article published in July 2001

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

scientific article

Oligodendrocyte myelin glycoprotein (OMgp): evolution, structure and function

scientific article published on 01 May 2004

Oligodendrocyte myelin glycoprotein growth inhibition function requires its conserved leucine-rich repeat domain, not its glycosylphosphatidyl-inositol anchor

scientific article

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

Partial recovery of dopaminergic pathway after graft of adult mesenchymal stem cells in a rat model of Parkinson's disease

scientific article published on 10 March 2008

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

scientific article published on 01 March 2018

Plasma creatinine and amyotrophic lateral sclerosis prognosis: a systematic review and meta-analysis

scientific article published on 09 April 2019

Pre-symptomatic diagnosis in ALS

scientific article published on 10 January 2020

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions

scientific article

Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees

Protein SUMOylation, an emerging pathway in amyotrophic lateral sclerosis

scientific article published on 04 February 2013

Renal impairment and ischemic stroke risk assessment in patients with atrial fibrillation: the Loire Valley Atrial Fibrillation Project

scientific article published on 21 March 2013

Respiratory onset in an ALS family with L144F SOD1 mutation

scientific article published on 20 June 2010

Roles of LIM kinases in central nervous system function and dysfunction

scientific article

Routine determination of GFR in renal transplant recipients by HPLC quantification of plasma iohexol concentrations and comparison with estimated GFR

scientific article published on 01 September 2012

SMN1 gene, but not SMN2, is a risk factor for sporadic ALS

article

SOD1 mutation can mask C9orf72 abnormal expansion

scientific article

Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results From the French National Paediatric Cohort CONAPE.

scientific article published on 7 November 2017

Serum influence on in-vitro gene delivery using microbubble-assisted ultrasound.

scientific article

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

scientific article published on 28 January 2022

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis

scientific article published on 14 March 2012

Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency

scientific article

TBK1 gene stresses the major role of autophagy in ALS

scientific article

TDP-43-Mediated Toxicity in HEK293T Cells: A Fast and Reproducible Protocol To Be Employed in the Search of New Therapeutic Options against Amyotrophic Lateral Sclerosis

scientific article published on 26 December 2019

The BDNF Val(66)Met polymorphism is associated with escitalopram response in depressed patients

scientific article published on 31 July 2014

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 combination of four analytical methods to explore skeletal muscle metabolomics: Better coverage of metabolic pathways or a marketing argument?

scientific article published on 18 October 2017

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

article

The effect of SMN gene dosage on ALS risk and disease severity

scientific article published on 02 January 2021

The oligodendrocyte-myelin glycoprotein gene is highly expressed during the late stages of myelination in the rat central nervous system.

scientific article published in September 2003

The specific metabolome profiling of patients infected by SARS-COV-2 supports the key role of tryptophan-nicotinamide pathway and cytosine metabolism

scientific article published on 08 October 2020

Total Protein Level in Cerebrospinal Fluid is Stable in Elderly Adults

scientific article published on 01 October 2013

Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband

scientific article published on 19 August 2007

Transplantation of multipotent cells extracted from adult skeletal muscles into the subventricular zone of adult rats.

scientific article published in October 2005

Typical bulbar ALS can be linked to GARS mutation

scientific article published on 20 January 2019

Urinary elimination of coproporphyrins is dependent on ABCC2 polymorphisms and represents a potential biomarker of MRP2 activity in humans

scientific article

Validation of amino-acids measurement in dried blood spot by FIA-MS/MS for PKU management.

scientific article published on 20 July 2016

Variable effects of chronic subcutaneous administration of rotenone on striatal histology

scientific article published in October 2004

What was the set of ubiquitin and ubiquitin-like conjugating enzymes in the eukaryote common ancestor?

scientific article published on 19 May 2009

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

scientific article published on 31 January 2017

Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families

scientific article published on 11 January 2013

[Genetics of motor neuron disorders]

scientific article published on 20 February 2008

[Late onset Tay-Sachs disease may mimic adult SMA]

scientific article published on 08 April 2011

[What may be the contribution of new technologies in the field of genetics of ALS?]

scientific article published on 07 April 2015

mRNA-selective translation induced by FSH in primary Sertoli cells

scientific article

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