Jean-Loup Méreaux senior onderzoeker

Publicaties Jean-Loup Méreaux

ATXN8OS intermediate expansion acts as a genetic modifier in spinocerebellar ataxia type 48 (SCA48/STUB1)

Bron
Movement disorders: video, videotape supplements - ISSN 0885-3185- (2026) p.
Auteur(s)
    Charlotte Mouraux, Jean-Loup Méreaux, Claire-Sophie Davoine, Lena Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli

No role of intronic expansions in HSF1 for essential tremor in Europe

Bron
Brain - ISSN 0006-8950-149:7 (2026) p. e52-e54
Auteur(s)
    Jean-Loup Méreaux, Thomas Wirth, Claire-Sophie Davoine, Clarisse Delvallee, Elsa Leitao, Friedrich Erdlenbruch, Guillaume Cogan, Nicole Jeschonneck, Aurelie Meneret, David Grabli, Claire Ewenczyk, Jean-Baptiste Lamouche, Jean Muller, Nicolas Dondaine, Sabine Kaya, Stephan Klebe, Christine Tranchant, Christel Depienne, Alexis Brice, Mathieu Anheim, Alexandra Durr

Biallelic ATG9B variants define a novel autophagy-related neurodevelopmental disorder with cerebellar ataxia

Bron
Genes - ISSN 2073-4425-17:6 (2026) p.
Auteur(s)
    Seval Kilic, Kerem Esmen, Jean-Loup Méreaux, Ayse Miray Oto, Tansu Bilge Kose, Melike Sever-Bahcekapili, Emine Eren-Kocak, Seyda Demir, A. Semra Hiz, Erum Afzal, Zahra Firoozfar, Gokhan Karakulah, H. Alper Bagriyanik, Lena Guillot-Noel, Giulia Coarelli, Henry Houlden, Stephanie Efthymiou, Alexandra Durr, Mehmet Ozturk, M. Kasim Diril

Expanding the clinical spectrum of RAB3A : from cerebellar ataxia to spastic paraplegia

Bron
Brain - ISSN 0006-8950-148:11 (2025) p. e96-e99
Auteur(s)
    Charlotte Mouraux, Jean-Loup Méreaux, Claire-Sophie Davoine, Lena Guillot-Noel, Alexis Brice, Alexandra Durr, Giulia Coarelli

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

Bron
Brain - ISSN 0006-8950-148:4 (2025) p. 1258-1270
Auteur(s)
    David Pellerin, Jean-Loup Méreaux, Susana Boluda, Matt C. Danzi, Marie-Josee Dicaire, Claire-Sophie Davoine, David Genis, Guinevere Spurdens, Catherine Ashton, Jillian M. Hammond, Brandon J. Gerhart, Viorica Chelban, Phuong U. Le, Maryam Safisamghabadi, Christopher Yanick, Hamin Lee, Sathiji K. Nageshwaran, Gabriel Matos-Rodrigues, Zane Jaunmuktane, Kevin Petrecca, Schahram Akbarian, Andre Nussenzweig, Karen Usdin, Mathilde Renaud, Celine Bonnet, Gianina Ravenscroft, Mario A. Saporta, Jill S. Napierala, Henry Houlden, Ira W. Deveson, Marek Napierala, Alexis Brice, Laura Molina Porcel, Danielle Seilhean, Stephan Zuchner, Alexandra Durr, Bernard Brais