Thomas Courtin - CNRS | 人才画像

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论文共 46 篇作者统计合作学者相似作者

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How is Familial Idiopathic Scoliosis Transmitted? Analysis of 26 Pedigrees

Serge Zakine, Hugo Marty,Thomas Courtin, Feng Quan,Hugues Pascal-Moussellard,Alexis Brice, Laura Marie-Hardy

Orthopaedics & traumatology, surgery & research OTSRpp.104229-104229, (2025)

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Giovanna Scorrano,Giulia Barcia, Jérôme Champ,Thomas Courtin, Nathalie Boddaert,Anna Kaminska,Nicole Chemaly,Rima Nabbout

Epilepsia open (2025)

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LSM7 Variants Involving Key Amino-Acids for LSM Complex Function Cause a Neurodevelopmental Disorder with Leukodystrophy and Cerebellar Atrophy

Matis Crespin, Karine Siquier-Pernet,Pauline Marzin,Christine Bole-Feysot,Valerie Malan,Patrick Nitschke,Marie Hully,Charles-Joris Roux, Michel Lemoine,Marlene Rio,Nathalie Boddaert,Thomas Courtin,Vincent Cantagrel

HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2025)

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Delineating the Role of Genetic Modifiers in Parkinson's Disease-Associated LRRK2-G2019S Mutation: a Large Multi-Ethnic Study

Thomas Courtin,Christelle Tesson,Helene Bertrand,Melanie Ferrien, Suzanne Lesage, Jean-Christophe Corvol,Alexis Brice

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 510-510

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Missense Variants in ANO4 Cause Sporadic Encephalopathic or Familial Epilepsy with Evidence for a Dominant-Negative Effect

The American Journal of Human Geneticsno. 6 (2024): 1184-1205

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PSMF1variants Cause a Phenotypic Spectrum from Early-Onset Parkinson's Disease to Perinatal Lethality by Disrupting Mitochondrial Pathways

Francesca Magrinelli,Christelle Tesson,Plamena R Angelova, Ainara Salazar-Villacorta,Jose A Rodriguez,Annarita Scardamaglia,Brian Hon-Yin Chung, Matthew Jaconelli,Barbara Vona,Noemi Esteras,Anna Ka-Yee Kwong,Thomas Courtin,Reza Maroofian,Shahryar Alavi,Raja Nirujogi,Mariasavina Severino, Patrick A Lewis,Stephanie Efthymiou,Benjamin O'Callaghan,Rebecca Buchert,Linda Sofan,Pawel Lis, Chloé Pinon,Guido J Breedveld,Martin Man-Chun Chui,David Murphy,Vanessa Pitz,Mary B Makarious,Marlene Cassar,Bassem A Hassan,Sana Iftikhar,Clarissa Rocca,Peter Bauer,Michele Tinazzi,Marina Svetel,Bedia Samanci,Haşmet A Hanağası,Basar Bilgiç,José A Obeso,Monica M Kurtis,Guillaume Cogan,Ayşe Nazlı Başak,Güneş Kiziltan,Tuğçe Gül, Gül Yalçın,Bülent Elibol,Nina Barišić, Earny Wei-Sen Ng, Sze-Shing Fan,Tova Hershkovitz,Karin Weiss,Javeria Raza Alvi,Tipu Sultan,Issam Azmi Alkhawaja,Tawfiq Froukh, Hadeel Abdollah E Alrukban,Christine Fauth,Ulrich A Schatz,Thomas Zöggeler,Michael Zech,Karen Stals,Vinod Varghese,Sonia Gandhi,Cornelis Blauwendraat,John A Hardy,Suzanne Lesage,Vincenzo Bonifati,Tobias B Haack,Aida M Bertoli-Avella,Robert Steinfeld,Dario R Alessi,Hermann Steller,Alexis Brice,Andrey Y Abramov,Kailash P Bhatia,Henry Houlden

medRxiv the preprint server for health sciences (2024)

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Dandelion Sign, a Highly Specific Neuroradiological Feature for the Diagnosis of EBF3-related Neurodevelopmental Disorder

Camille Galludec Vaillant,Thomas Courtin,Anne Philippe,Arnold Munnich,Jeanne Amiel,Valerie Malan,Nathalie Boddaert,Marlene Rio

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 474-474

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Genotype Phenotype Correlation in PRKN-associated Parkinson's Disease

Poornima Jayadev Menon,Sara Sambin,Baptiste Criniere-Boizet,Thomas Courtin,Christelle Tesson,Fanny Casse,Melanie Ferrien,Louise-Laure Mariani,Stephanie Carvalho,Francois-Xavier Lejeune,Sana Rebbah, Gaspard Martet, Marion Houot,Aymeric Lanore,Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger,Walter Pirker, Ignacio Alvarez,Pau Pastor, Alessio Di Fonzo, Kailash P. Bhatia,Francesca Magrinelli, Henry Houlden,Raquel Real, Andrea Quattrone, Patricia Limousin,Prasad Korlipara, Thomas Foltynie,Donald Grosset, Nigel Williams,Derek Narendra,Hsin-Pin Lin,Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser,Kathrin Brockmann,Huw R. Morris,Max Borsche,Christine Klein,Olga Corti,Alexis Brice,Suzanne Lesage,Jean Christophe Corvol

NPJ PARKINSONS DISEASEno. 1 (2024)

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Prenatal Exome Sequencing in Corpus Callosum Anomalies: Lessons from a Cohort of 209 Fetuses

Anna Gerasimenko,Solveig Heide, Lisa Frugere,Stephanie Valence,Jean-Marie Jouannic,Tania Attie-Bitach,Catherine Garel,Mathilde Nizon,Audrey Putoux, Cecile Prudhomme, Jade Ducourneau,Thomas Courtin,Daphne Lehalle,Jean-Madeleine de Sainte Agathe,des Portes Vincent,Olivier Patat,Mathieu Milh,Sebastien Moutton,Myrtille Spentchian,Cyril Mignot,Boris Keren,Delphine Heron

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 42-42

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Genetic Heterogeneity in Familial Forms of Genetic Generalized Epilepsy: from Mono- to Oligogenism

Maha Dahawi,Jean-Madeleine de Sainte Agathe, Mohamed S. Elmagzoub,Elhami A. Ahmed,Julien Buratti,Thomas Courtin,Eric Noé, Julie Bogoin,Bruno Copin,Fatima A. Elmugadam,Wasma A. Abdelgadir,Ahmed K. M. A. Ahmed, Mohamed A. Daldoum, Rayan Mamoon Ibrahim Altayeb, Mohamed Bashir, Leena Mohamed Khalid,Sahar Gamil,Sara Baldassari,Liena Elsayed,Boris Keren,Gregory Nuel,Ammar E. Ahmed,Eric Leguern

Human Genomicsno. 1 (2024): 1-18

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