Publications by authors named "Patrick Vourc'h"

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Identification of disease-associated molecular signatures in the Prp-TDP-43A315T mouse model of ALS: Toward preclinical biomarker development.
Yara Al Ojaimi, Samira Osman, Hugo Alarcan, Patrick Emond, Charlotte Veyrat-Durebex, Patrick Vourc'h

J Neuropathol Exp Neurol· October 2025

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Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.
Alfredo Iacoangeli, Allison A Dilliott, Ahmad Al Khleifat, Peter M Andersen, Nazlı A Başak, Patrick Vourc'h

J Neurol Neurosurg Psychiatry· September 2025

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scFv intrabody targeting wildtype TDP-43 presents protective effects in a cellular model of TDP-43 proteinopathy.
Yara Al Ojaimi, Rudolf Hergesheimer, Anna A Chami, Hugo Alarcan, Johanna Augros, Patrick Vourc'h

PLoS One· August 2025

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Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a Variant of Uncertain Significance.
Léa Bedja-Iacona, Arthur Forget, Chloé Boisseau, Sylviane Marouillat, Aleksandra Chudinova, Patrick Vourc'h

Int J Mol Sci· August 2025

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Critical impact of lysine 136 in TDP-43 phase separation, compartmentalization, and aggregation in living vertebrates.
Cindy Maurel, Natalie M Scherer, Luan Luu, Rowan A Radford, Alison Hogan, Patrick Vourc'h

iScience· July 2025

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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, Patrick Vourc'h

Amyotroph Lateral Scler Frontotemporal Degener· May 2025

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MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights.
Sibylle De Bertier, Géraldine Lautrette, Maria-Del-Mar Amador, Tomoko Miki, Séverine Boillée, Patrick Vourc'h

J Neurol· March 2025

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Metabolomic and Proteomic Profiling of Serum-Derived Extracellular Vesicles from Early-Stage Amyotrophic Lateral Sclerosis Patients.
Yara Al Ojaimi, Nicolas Vallet, Audrey Dangoumau, Débora Lanznaster, Clement Bruno, Patrick Vourc'h

J Mol Neurosci· February 2025

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Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis.
Olivia A Grant, Alfredo Iacoangeli, Ramona A J Zwamborn, Wouter van Rheenen, Ross Byrne, Patrick Vourc'h

bioRxiv· November 2024

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Dynamic Expression of Genes Encoding Ubiquitin Conjugating Enzymes (E2s) During Neuronal Differentiation and Maturation: Implications for Neurodevelopmental Disorders and Neurodegenerative Diseases.
Agathe Paubel, Sylviane Marouillat, Audrey Dangoumau, Cindy Maurel, Shanez Haouari, Patrick Vourc'h

Genes (Basel)· October 2024

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N-Terminal Fragments of TDP-43-In Vitro Analysis and Implication in the Pathophysiology of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration.
Anna A Chami, Léa Bedja-Iacona, Elodie Richard, Debora Lanznaster, Sylviane Marouillat, Patrick Vourc'h

Genes (Basel)· September 2024

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Post-Translational Variants of Major Proteins in Amyotrophic Lateral Sclerosis Provide New Insights into the Pathophysiology of the Disease.
Léa Bedja-Iacona, Elodie Richard, Sylviane Marouillat, Céline Brulard, Tarek Alouane, Patrick Vourc'h

Int J Mol Sci· August 2024

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The effect of pH alterations on TDP-43 in a cellular model of amyotrophic lateral sclerosis.
Yara Al Ojaimi, Charlotte Slek, Samira Osman, Hugo Alarcan, Sylviane Marouillat, Patrick Vourc'h

Biochem Biophys Rep· July 2024

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Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Heather Marriott, Thomas P Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A Başak, Patrick Vourc'h

Ann Clin Transl Neurol· July 2024

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PET Study of Microglial Activation in Kleine-Levin Syndrome.
Lucie Barateau, Anis Krache, Alexandre Da Costa, Michel Lecendreux, Sofiene Chenini, Patrick Vourc'h

Neurol Neuroimmunol Neuroinflamm· July 2024

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Pharmacometabolomics applied to low-dose interleukin-2 treatment in amyotrophic lateral sclerosis.
Hugo Alarcan, Clément Bruno, Patrick Emond, Cédric Raoul, Patrick Vourc'h

Ann N Y Acad Sci· June 2024

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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, Patrick Vourc'h

Neurology· May 2024

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Neutrophil to Lymphocyte Ratio as a Prognostic Marker in Amyotrophic Lateral Sclerosis.
Camille Cotet, Hugo Alarcan, Olivier Hérault, Philippe Corcia, Patrick Vourc'h

Biomolecules· November 2023

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Genetic variability in sporadic amyotrophic lateral sclerosis.
Sien Hilde Van Daele, Matthieu Moisse, Joke J F A van Vugt, Ramona A J Zwamborn, Rick van der Spek, Patrick Vourc'h

Brain· September 2023

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Implication of Central Nervous System Barrier Impairment in Amyotrophic Lateral Sclerosis: Gender-Related Difference in Patients.
Hugo Alarcan, Patrick Vourc'h, Lise Berton, Isabelle Benz-De Bretagne, Eric Piver

Int J Mol Sci· July 2023

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Evaluation of arterial blood gas parameters as prognostic markers in amyotrophic lateral sclerosis.
Hugo Alarcan, Camille Cotet, Nadège Lépine, Julie Morel, Patrick Vourc'h

Eur J Neurol· June 2023

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Time for optimism in amyotrophic lateral sclerosis.
Philippe Corcia, Christian Lunetta, Patrick Vourc'h, Pierre-François Pradat, Hélène Blasco

Eur J Neurol· May 2023

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Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders.
Florence Desprez, Dévina C Ung, Patrick Vourc'h, Médéric Jeanne, Frédéric Laumonnier

Front Neurosci· April 2023

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Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.
Brett N Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, Isabella Fogh, Philip van Damme, Patrick Vourc'h

Front Cell Neurosci· March 2023

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Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on Encoding the E3 Ligase NEDL1.
Shanez Haouari, Christian Robert Andres, Debora Lanznaster, Sylviane Marouillat, Céline Brulard, Patrick Vourc'h

Int J Mol Sci· January 2023

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