|
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie
,
Aldja Abderrahmane
,
Ouarda Abdous
,
Carine Abel
,
Oanez Ackermann
et al.
Article dans une revue
hal-04988732
v1
|
|
Intracerebral drug delivery using microbubble/nanodroplet-assisted ultrasound to address neurodegenerative diseases
Karen Ea
,
Nicolas Taulier
,
Christiane Contino-Pépin
,
Wladimir Urbach
,
Stéphane Desgranges
et al.
Article dans une revue
hal-04974610
v1
|
|
MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights
Sibylle de Bertier
,
Géraldine Lautrette
,
Maria-Del-Mar Amador
,
Tomoko Miki
,
Séverine Boillée
et al.
Article dans une revue
hal-05008980
v1
|
|
Pharmacometabolomics applied to low-dose interleukin-2 treatment in amyotrophic lateral sclerosis
Hugo Alarcan
,
Clément Bruno
,
Patrick Emond
,
Cédric Raoul
,
Patrick Vourc'H
et al.
Article dans une revue
hal-04767126
v1
|
|
Microglia Density and Its Association With Disease Duration, Severity, and Orexin Levels in Patients With Narcolepsy Type 1
Lucie Barateau
,
Anis Krache
,
Alexandre da Costa
,
Michel Lecendreux
,
Rachel Debs
et al.
Article dans une revue
hal-04561871
v1
|
|
Gut metabolomic and microbiota analyses in ALS mice reveal specific metabolites despite the absence of significant gut dysbiosis
Charlotte Veyrat-Durebex
,
Samira Osman
,
Yara Al Ojaimi
,
Philippe Gosset
,
Camille Dupuy
et al.
Article dans une revue
hal-04877256
v1
|
|
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
Sara Saez-Atienzar
,
Cleide dos Santos Souza
,
Ruth Chia
,
Selina Beal
,
Ileana Lorenzini
et al.
Article dans une revue
hal-04921891
v1
|
|
PET Study of Microglial Activation in Kleine-Levin Syndrome
Lucie Barateau
,
Anis Krache
,
Alexandre da Costa
,
Michel Lecendreux
,
Sofiene Chenini
et al.
Article dans une revue
hal-04615146
v1
|
|
N-Terminal Fragments of TDP-43—In Vitro Analysis and Implication in the Pathophysiology of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration
Anna Chami
,
Léa Bedja-Iacona
,
Elodie Richard
,
Debora Lanznaster
,
Sylviane Marouillat
et al.
Article dans une revue
hal-04755409
v1
|
|
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
et al.
Article dans une revue
hal-04541653
v1
|
|
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
et al.
Article dans une revue
hal-03939741
v1
|
|
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 a A van der Spek
,
Mark K Bakker
,
Joke J F A van Vugt
,
Paul J Hop
et al.
Article dans une revue
hal-04777606
v1
|
|
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
et al.
Article dans une revue
hal-03939759
v1
|
|
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
et al.
Article dans une revue
inserm-03723283
v1
|
|
Reply to the letter from Gazulla et al.
Philippe Corcia
,
Christian Lunetta
,
Philippe Couratier
,
Patrick Vourc'H
,
Marta Gromicho
et al.
Article dans une revue
hal-03521270
v1
|
|
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
et al.
Article dans une revue
hal-03493473
v1
|
|
Targeting synaptic dysfunction using SINEUP ncRNA enhancer in neurodegenerative diseases
Kathia Zaleta-Rivera
,
Stefano Espinoza
,
Roberto F. Delgadillo
,
Emmanuel Astoul
,
Sylviane Marouillat
et al.
Article dans une revue
hal-04198506
v1
|
|
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
Matthieu Moisse
,
Ramona Zwamborn
,
Joke Vugt
,
Rick Spek
,
Wouter Rheenen
et al.
Article dans une revue
hal-03350820
v1
|
|
The future of ALS might move towards Genetic Therapy
Philippe Corcia
,
Philippe Couratier
,
Patrick Vourc’h
Article dans une revue
hal-03332250
v1
|
|
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
et al.
Article dans une revue
hal-03353407
v1
|
|
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
et al.
Article dans une revue
hal-03390641
v1
|
|
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
et al.
Article dans une revue
hal-03939733
v1
|
|
Effect of familial clustering in the genetic screening of 235 French ALS families
Philippe Corcia
,
William Camu
,
Celine Brulard
,
Sylviane Marouillat
,
Philippe Couratier
et al.
Article dans une revue
hal-03369962
v1
|
|
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
Gijs H P Tazelaar
,
Steven Boeynaems
,
Mathias De Decker
,
Joke J F a Van Vugt
,
Lindy Kool
et al.
Article dans une revue
hal-02991948
v1
|
|
The specific metabolome profiling of patients infected by SARS-COV-2 supports the key role of tryptophan-nicotinamide pathway and cytosine metabolism
H Blasco
,
C Bessy
,
L Plantier
,
A Lefevre
,
E Piver
et al.
Article dans une revue
inserm-03412059
v1
|
|
Advances in disease-modifying pharmacotherapies for the treatment of amyotrophic lateral sclerosis
Rudolf Hergesheimer
,
Débora Lanznaster
,
Patrick Vourc’h
,
Christian Andres
,
Se Bakkouche
et al.
Article dans une revue
hal-02869854
v1
|
|
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
et al.
Article dans une revue
hal-02351424
v1
|
|
Ferritin and LDL-cholesterol as biomarkers of fat-free mass loss in ALS
Pierre Jésus
,
Hélène Blasco
,
Franck Patin
,
Salah Eddine Bakkouche
,
Stéphane Beltran
et al.
Article dans une revue
hal-02363239
v1
|
|
Recombinant Intrabodies as Molecular Tools and Potential Therapeutics for Amyotrophic Lateral Sclerosis
Dênis Reis de Assis
,
Anna Chami
,
Rudolf Hergesheimer
,
Judith Halewa
,
Seyedeh Tayebeh Ahmad Pour
et al.
Article dans une revue
hal-03218538
v1
|
|
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
et al.
Article dans une revue
hal-02612470
v1
|
|
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
et al.
Molecular Neurobiology, 2019
Article dans une revue
hal-02032108
v1
|
|
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
et al.
Article dans une revue
hal-02067472
v1
|
|
C-reactive protein: A promising biomarker in ALS?
Philippe Corcia
,
H. Blasco
,
C Beltran
,
C. Andres
,
P. Vourc'H
et al.
Article dans une revue
hal-02051961
v1
|
|
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
et al.
Biochemical Journal, 2018, 475 (23), pp.3745-3761
Article dans une revue
hal-01966439
v1
|
|
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
et al.
Article dans une revue
hal-01964500
v1
|
|
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
et al.
Article dans une revue
hal-02621329
v1
|
|
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
et al.
Article dans une revue
hal-01826422
v1
|
|
Changes in glomerular filtration rate and outcomes in patients with atrial fibrillation
Laurent Fauchier
,
Arnaud Bisson
,
Nicolas Clementy
,
Patrick Vourc'H
,
Denis Angoulvant
et al.
Article dans une revue
hal-03655485
v1
|
|
Phenotypic and genotypic studies of ALS cases in ALS-SMA families
Philippe Corcia
,
Patrick Vourc’h
,
Hélène Blasco
,
Philippe Couratier
,
Audrey Dangoumau
et al.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2018, 19 (5-6), pp.432-437
Article dans une revue
hal-02029592
v1
|
|
The Metabolic Disturbances of Motoneurons Exposed to Glutamate
Sylvie Mavel
,
Blandine Madji Hounoum
,
Hélène Blasco
,
Emmanuelle Coque
,
Patrick Vourc’h
et al.
Article dans une revue
hal-01826389
v1
|
|
Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS
Hélène Blasco
,
Charlotte Veyrat-Durebex
,
Cinzia Bocca
,
Franck Patin
,
Patrick Vourc'H
et al.
Article dans une revue
hal-02104331
v1
|
|
Wildtype motoneurons, ALS‐Linked SOD1 mutation and glutamate profoundly modify astrocyte metabolism and lactate shuttling
Blandine Madji Hounoum
,
Sylvie Mavel
,
Emmanuelle Coque
,
Franck Patin
,
Patrick Vourc’h
et al.
Article dans une revue
hal-04767249
v1
|
|
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
Russell L Mclaughlin
,
Dick Schijven
,
Wouter van Rheenen
,
Kristel R van Eijk
,
Margaret O’brien
et al.
Article dans une revue
hal-04423266
v1
|
|
Ductal adenocarcinoma of the prostate: Clinical and biological profiles
Armelle Vinceneux
,
Franck Bruyere
,
Olivier Haillot
,
Thomas Charles
,
Alexandre de La Taille
et al.
Article dans une revue
hal-01893586
v1
|
|
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
et al.
Article dans une revue
hal-03534393
v1
|
|
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
et al.
Article dans une revue
hal-03601880
v1
|
|
SOD1 mutation can mask C9orf72 abnormal expansion
P. Corcia
,
H. Blasco
,
G. Besson
,
J.P. Camdessanché
,
V. Pautot
et al.
Article dans une revue
hal-01774095
v1
|
|
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
et al.
Article dans une revue
hal-01826430
v1
|
|
Panel of oxidative stress and inflammatory biomarkers in als: a pilot study
Helene Blasco
,
Guillaume Garcon
,
Franck Patin
,
Charlotte Veyrat-Durebex
,
Judith Boyer
et al.
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-03776862
v1
|
|
NSC-34 Motor Neuron-Like Cells Are Unsuitable as Experimental Model for Glutamate-Mediated Excitotoxicity
Blandine Madji Hounoum
,
Patrick Vourc’h
,
Romain Felix
,
Philippe Corcia
,
Franck Patin
et al.
Article dans une revue
hal-04767258
v1
|
|
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
et al.
Article dans une revue
hal-03939751
v1
|
|
Roles of LIM kinases in central nervous system function and dysfunction
H. Cuberos
,
B. Vallée
,
P. Vourc'H
,
J. Tastet
,
C.R. Andres
et al.
Article dans une revue
hal-02072231
v1
|
|
Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism
Julie Tastet
,
Loïc Decalonne
,
Sylviane Marouillat
,
Joëlle Malvy
,
Rose-Anne Thépault
et al.
Article dans une revue
hal-02072312
v1
|
|
Deficits in Information Transfer between Hospital-Based and Primary-Care Physicians, the Case of Kidney Disease: A Cross-Sectional Study
Benedicte Sautenet
,
Agnès Caille
,
Bruno Giraudeau
,
Julie Léger
,
Patrick Vourc'H
et al.
Article dans une revue
hal-03156122
v1
|
|
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
et al.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2015, 16 (7-8), pp.490--496
Article dans une revue
hal-01985793
v1
|
|
Serum influence on in-vitro gene delivery using microbubble-assisted ultrasound
Aya Zeghimi
,
Novell Anthony
,
Rose-Anne Thepault
,
Patrick Vourc'H
,
Ayache Bouakaz
et al.
Article dans une revue
inserm-02438479
v1
|
|
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
et al.
Article dans une revue
hal-03677545
v1
|
|
Renal Impairment and Ischemic Stroke Risk Assessment in Patients With Atrial Fibrillation
Amitava Banerjee
,
Laurent Fauchier
,
Patrick Vourc'H
,
Christian Andres
,
Sophie Taillandier
et al.
Article dans une revue
hal-03679433
v1
|
|
Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families
M. Huc-Chabrolle
,
Céline Charon
,
A. Guilmatre
,
Patrick Vourc’h
,
G. Tripi
et al.
Article dans une revue
cea-04608759
v1
|
|
Total protein level in cerebrospinal fluid is stable in elderly adults
Diane Dufour-Rainfray
,
Emilie Beaufils
,
Patrick Vourc'H
,
Emilie Vierron
,
Laurent Mereghetti
et al.
Article dans une revue
istex
hal-02650316
v1
|
|
1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.
Sylvie Mavel
,
Lydie Nadal-Desbarats
,
Hélène Blasco
,
Frédérique Bonnet-Brilhault
,
Catherine Barthélémy
et al.
Article dans une revue
inserm-00908930
v1
|
|
1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.
Sylvie Mavel
,
Lydie Nadal-Desbarats
,
Hélène Blasco
,
Frédérique Bonnet-Brilhault
,
Catherine Barthélémy
et al.
Article dans une revue
inserm-00908985
v1
|
|
GC-MS-based urine metabolic profiling of autism spectrum disorders.
Patrick Emond
,
Sylvie Mavel
,
Nacima Aïdoud
,
Lydie Nadal-Desbarats
,
Frédéric Montigny
et al.
Article dans une revue
inserm-00908948
v1
|
|
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
et al.
Article dans une revue
inserm-00871180
v1
|
|
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
et al.
Article dans une revue
istex
hal-00927560
v1
|
|
mRNA-selective translation induced by FSH in primary Sertoli cells
Astrid Musnier
,
K. Leon
,
J. Morales
,
Eric Reiter
,
Thomas Boulo
et al.
Article dans une revue
hal-01129597
v1
|
|
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
et al.
Article dans une revue
istex
hal-01136281
v1
|
|
The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis.
Hélène Blasco
,
Philippe Corcia
,
Charlotte Veyrat-Durebex
,
Cathleen Coutadeur
,
Clémentine Fournier
et al.
Article dans une revue
hal-00926892
v1
|
|
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
et al.
Article dans une revue
istex
hal-00926903
v1
|
|
Respiratory onset in an ALS family with L144F SOD1mutation
Philippe Corcia
,
Philippe Petiot
,
Zorica Stevic
,
Patrick Vourc'H
,
Raoul Morales
et al.
Article dans une revue
istex
hal-00600748
v1
|
|
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
et al.
Article dans une revue
inserm-00663530
v1
|
|
Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.
Isabelle Martin
,
Patrick Vourc'H
,
Marie Mahé
,
Rose-Anne Thépault
,
Catherine Antar
et al.
Article dans une revue
hal-00926733
v1
|
|
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
et al.
Article dans une revue
istex
hal-02527025
v1
|
|
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.
Agathe Paubel
,
Jeremy Violette
,
Maïté Amy
,
Julien Praline
,
Vincent Meininger
et al.
Article dans une revue
hal-00926684
v1
|
|
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
et al.
Article dans une revue
istex
hal-02019548
v1
|
|
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
et al.
Article dans une revue
hal-04110913
v1
|