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Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1
Shanez Haouari
,
Christian Robert Andres
,
Debora Lanznaster
,
Sylviane Marouillat
,
Céline Brulard
Article dans une revue
hal-04541653v1
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Reply to the letter from Gazulla et al.
Philippe Corcia
,
Christian Lunetta
,
Philippe Couratier
,
Patrick Vourc'H
,
Marta Gromicho
Article dans une revue
hal-03521270v1
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Taking Advantages of Blood–Brain or Spinal Cord Barrier Alterations or Restoring Them to Optimize Therapy in ALS?
Hugo Alarcan
,
Yara Al Ojaimi
,
Debora Lanznaster
,
Jean-Michel Escoffre
,
Philippe Corcia
Article dans une revue
inserm-03723283v1
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Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
Ahmad Al Khleifat
,
Alfredo Iacoangeli
,
Joke van Vugt
,
Harry Bowles
,
Matthieu Moisse
Article dans une revue
hal-03939759v1
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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
Paul Hop
,
Ramona Zwamborn
,
Eilis Hannon
,
Gemma Shireby
,
Marta Nabais
Article dans une revue
hal-03939741v1
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Effect of familial clustering in the genetic screening of 235 French ALS families
Philippe Corcia
,
William Camu
,
Celine Brulard
,
Sylviane Marouillat
,
Philippe Couratier
Article dans une revue
hal-03369962v1
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Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome
Patrick Vourc’h
,
François Wurmser
,
Céline Brulard
,
Kevin Mouzat
,
Sandra Kassem
Article dans une revue
hal-03493473v1
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Targeting synaptic dysfunction using SINEUP ncRNA enhancer in neurodegenerative diseases
Kathia Zaleta-Rivera
,
Stefano Espinoza
,
Roberto F. Delgadillo
,
Emmanuel Astoul
,
Sylviane Marouillat
Article dans une revue
hal-04198506v1
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The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
Matthieu Moisse
,
Ramona Zwamborn
,
Joke Vugt
,
Rick Spek
,
Wouter Rheenen
Article dans une revue
hal-03350820v1
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Impact of a frequent nearsplice SOD1 variant in Amyotrophic Lateral Sclerosis: optimizing SOD1 genetic screening for gene therapy opportunities
François Muratet
,
Elisa Teyssou
,
Aude Chiot
,
Séverine Boillée
,
Christian S Lobsiger
Article dans une revue
hal-03353407v1
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The future of ALS might move towards Genetic Therapy
Philippe Corcia
,
Philippe Couratier
,
Patrick Vourc’h
Article dans une revue
hal-03332250v1
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Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum
Philippe Corcia
,
Christian Lunetta
,
Philippe Couratier
,
Patrick Vourc'H
,
Marta Gromicho
Article dans une revue
hal-03390641v1
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Wouter van Rheenen
,
Rick van der Spek
,
Mark Bakker
,
Joke van Vugt
,
Paul Hop
Article dans une revue
hal-03939733v1
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Advances in disease-modifying pharmacotherapies for the treatment of amyotrophic lateral sclerosis
Rudolf Hergesheimer
,
Débora Lanznaster
,
Patrick Vourc’h
,
Christian Andres
,
Se Bakkouche
Article dans une revue
hal-02869854v1
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The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?
Rudolf C Hergesheimer
,
Anna A Chami
,
Denis Reis de Assis
,
Patrick Vourc’h
,
Christian Andres
Article dans une revue
hal-02612470v1
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Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms
Charlotte Veyrat-Durebex
,
Céline Bris
,
Philippe Codron
,
Cinzia Bocca
,
Stephanie Chupin
Molecular Neurobiology, 2019
Article dans une revue
hal-02032108v1
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Ferritin and LDL-cholesterol as biomarkers of fat-free mass loss in ALS
Pierre Jésus
,
Hélène Blasco
,
Franck Patin
,
Salah Eddine Bakkouche
,
Stéphane Beltran
Article dans une revue
hal-02363239v1
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The Relevancy of Data Regarding the Metabolism of Iron to Our Understanding of Deregulated Mechanisms in ALS; Hypotheses and Pitfalls
Camille Petillon
,
Rudolf Hergesheimer
,
Hervé Puy
,
Philippe Corcia
,
Patrick Vourc'H
Article dans une revue
hal-02351424v1
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LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability
Julie Tastet
,
Hélène Cuberos
,
Béatrice Vallée
,
Annick Toutain
,
Martine Raynaud
Article dans une revue
hal-02067472v1
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LIMK2-1, a new isoform of human LIMK2, regulates actin cytoskeleton remodeling via a different signaling pathway than that of its two homologs, LIMK2a and LIMK2b
Béatrice Vallée
,
Hélène Cuberos
,
Michel Doudeau
,
Fabienne Godin
,
David Gosset
Biochemical Journal, 2018, 475 (23), pp.3745-3761
Article dans une revue
hal-01966439v1
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Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions
Philippe Codron
,
Julien Cassereau
,
Patrick Vourc'H
,
Charlotte Veyrat-Durebex
,
Hélène Blasco
Article dans une revue
hal-01964500v1
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The Metabolic Disturbances of Motoneurons Exposed to Glutamate
Sylvie Mavel
,
Blandine Madji Hounoum
,
Hélène Blasco
,
Emmanuelle Coque
,
Patrick Vourc’h
Article dans une revue
hal-01826389v1
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Phenotypic and genotypic studies of ALS cases in ALS-SMA families
Philippe Corcia
,
Patrick Vourc’h
,
Hélène Blasco
,
Philippe Couratier
,
Audrey Dangoumau
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2018, 19 (5-6), pp.432-437
Article dans une revue
hal-02029592v1
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Identification of metabolic pathway disturbances using multimodal metabolomics in autistic disorders in a Middle Eastern population
Sylvie Mavel
,
Tania Bitar
,
Patrick Emond
,
Lydie Nadal-Desbarats
,
Antoine Lefèvre
Article dans une revue
hal-01826422v1
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Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE
Annabel Maruani
,
Marine Durieux-Verde
,
Juliette Mazereeuw-Hautier
,
Olivia Boccara
,
Ludovic Martin
Article dans une revue
hal-02621329v1
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Changes in glomerular filtration rate and outcomes in patients with atrial fibrillation
Laurent Fauchier
,
Arnaud Bisson
,
Nicolas Clementy
,
Patrick Vourc'H
,
Denis Angoulvant
Article dans une revue
hal-03655485v1
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Wildtype motoneurons, ALS-Linked SOD1 mutation and glutamate profoundly modify astrocyte metabolism and lactate shuttling
Sylvie Mavel
,
Blandine Madji Hounoum
,
Emmanuelle Coque
,
Franck Patin
,
Patrick Vourc'H
Article dans une revue
hal-01826428v1
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Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism
Franck Patin
,
Philippe Corcia
,
Patrick Vourc’h
,
Lydie Nadal-Desbarats
,
Thomas Baranek
Article dans une revue
hal-03601880v1
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Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism
Franck Patin
,
Philippe Corcia
,
Patrick Vourc’h
,
Lydie Nadal-Desbarats
,
Thomas Baranek
Article dans une revue
hal-03534393v1
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Ductal adenocarcinoma of the prostate: Clinical and biological profiles
Armelle Vinceneux
,
Franck Bruyere
,
Olivier Haillot
,
Thomas Charles
,
Alexandre de La Taille
Article dans une revue
hal-01893586v1
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Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS
Hélène Blasco
,
Charlotte Veyrat-Durebex
,
Cinzia Bocca
,
Franck Patin
,
Patrick Vourc'H
Article dans une revue
hal-02104331v1
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Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
Russell L Mclaughlin
,
Dick Schijven
,
Wouter van Rheenen
,
Kristel R van Eijk
,
Margaret O’brien
Article dans une revue
hal-04423266v1
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NSC-34 Motor Neuron-Like Cells Are Unsuitable as Experimental Model for Glutamate-Mediated Excitotoxicity
Blandine Madji Hounoum
,
Patrick Vourc’h
,
Romain Félix
,
Philippe Corcia
,
Franck Patin
Article dans une revue
hal-01826430v1
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Panel of oxidative stress and inflammatory biomarkers in als: a pilot study
Helene Blasco
,
Guillaume Garcon
,
Franck Patin
,
Charlotte Veyrat-Durebex
,
Judith Boyer
Canadian Journal of Neurological Sciences, 2016, The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 44 (1), pp.90-95. ⟨10.1017/cjn.2016.284⟩
Article dans une revue
hal-03776862v1
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Wouter van Rheenen
,
Aleksey Shatunov
,
Annelot Dekker
,
Russell Mclaughlin
,
Frank Diekstra
Article dans une revue
hal-03939751v1
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Deficits in Information Transfer between Hospital-Based and Primary-Care Physicians, the Case of Kidney Disease: A Cross-Sectional Study
Bénédicte Sautenet
,
Agnès Caille
,
Bruno Giraudeau
,
Julie Léger
,
Patrick Vourc'H
Article dans une revue
hal-03156122v1
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Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism
Julie Tastet
,
Loïc Decalonne
,
Sylviane Marouillat
,
Joëlle Malvy
,
Rose-Anne Thépault
Article dans une revue
hal-02072312v1
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A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population
Maïté Amy
,
Oliver Staehlin
,
Frédérique René
,
Hélène Blasco
,
Sylviane Marouillat
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2015, 16 (7-8), pp.490--496
Article dans une revue
hal-01985793v1
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Serum influence on in-vitro gene delivery using microbubble-assisted ultrasound
Aya Zeghimi
,
Novell Anthony
,
Rose-Anne Thepault
,
Patrick Vourc'H
,
Ayache Bouakaz
Article dans une revue
inserm-02438479v1
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A Prospective Study of Estimated Glomerular Filtration Rate and Outcomes in Patients With Atrial Fibrillation
Amitava Banerjee
,
Laurent Fauchier
,
Patrick Vourc'H
,
Christian Andres
,
Sophie Taillandier
Article dans une revue
hal-03677545v1
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Total protein level in cerebrospinal fluid is stable in elderly adults
Diane Dufour-Rainfray
,
Emilie Beaufils
,
Patrick Vourc'H
,
Emilie Vierron
,
Laurent Mereghetti
Article dans une revue
hal-02650316v1
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1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.
Sylvie Mavel
,
Lydie Nadal-Desbarats
,
Hélène Blasco
,
Frédérique Bonnet-Brilhault
,
Catherine Barthélémy
Article dans une revue
inserm-00908930v1
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1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.
Sylvie Mavel
,
Lydie Nadal-Desbarats
,
Hélène Blasco
,
Frédérique Bonnet-Brilhault
,
Catherine Barthélémy
Article dans une revue
inserm-00908985v1
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Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.
Mariam Annan
,
Émilie Beaufils
,
Ursule-Catherine Viola
,
Patrick Vourc'H
,
Caroline Hommet
Article dans une revue
inserm-00871180v1
|
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Renal Impairment and Ischemic Stroke Risk Assessment in Patients With Atrial Fibrillation
Amitava Banerjee
,
Laurent Fauchier
,
Patrick Vourc'H
,
Christian Andres
,
Sophie Taillandier
Article dans une revue
hal-03679433v1
|
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GC-MS-based urine metabolic profiling of autism spectrum disorders.
Patrick Emond
,
Sylvie Mavel
,
Nacima Aïdoud
,
Lydie Nadal-Desbarats
,
Frédéric Montigny
Article dans une revue
inserm-00908948v1
|
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LIMK2d, a truncated isoform of Lim kinase 2 regulates neurite growth in absence of the LIM kinase domain
Julie Tastet
,
Patrick Vourc'H
,
Frédéric Laumonnier
,
Béatrice Vallée
,
Carole Michelle
Article dans une revue
hal-01136281v1
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Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.
Julien Praline
,
Hélène Blasco
,
Patrick Vourc'H
,
Valérian Rat
,
Chantal Gendrot
Article dans une revue
hal-00927560v1
|
|
Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis.
Hélène Blasco
,
Patrick Vourc'H
,
Yann Nadjar
,
Bénédicte Ribourtout
,
Paul H Gordon
Article dans une revue
hal-00926903v1
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The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis.
Hélène Blasco
,
Philippe Corcia
,
Charlotte Veyrat-Durebex
,
Cathleen Coutadeur
,
Clémentine Fournier
Article dans une revue
hal-00926892v1
|
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Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency.
Refaat Tabagh
,
Christian Andres
,
Sylviane Védrine
,
Catherine Cherpi-Antar
,
Rose-Anne Thepault
Article dans une revue
inserm-00663530v1
|
|
Respiratory onset in an ALS family with L144F SOD1mutation
Philippe Corcia
,
Philippe Petiot
,
Zorica Stevic
,
Patrick Vourc'H
,
Raoul Morales
Article dans une revue
hal-00600748v1
|
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Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.
Isabelle Martin
,
Patrick Vourc'H
,
Marie Mahé
,
Rose-Anne Thépault
,
Catherine Antar
Article dans une revue
hal-00926733v1
|
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Effect of the oligodendrocyte myelin glycoprotein (OMgp) on the expansion and neuronal differentiation of rat neural stem cells
Isabelle Martin
,
Christian Andres
,
Sylviane Védrine
,
Refaat Tabagh
,
Caroline Michelle
Article dans une revue
hal-02527025v1
|
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Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.
Agathe Paubel
,
Jeremy Violette
,
Maïté Amy
,
Julien Praline
,
Vincent Meininger
Article dans une revue
hal-00926684v1
|
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Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder
Patrick Vourc'H
,
Elisabeth Petit-Teixeira
,
Jean Pierre Müh
,
Christian Andres
,
Thierry Bienvenu
Article dans une revue
hal-02019548v1
|
|
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
Patrick Vourc'H
,
Thierry Bienvenu
,
Cherif Beldjord
,
Jamel Chelly
,
Catherine Barthélémy
Article dans une revue
hal-04110913v1
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