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Journal Article
Mendoza-Ferreira, Natalia, Coutelier, Marie ORCID: 0000-0002-0261-7210, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Loehr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus
ORCID: 0000-0003-2592-5045, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni
ORCID: 0000-0001-9368-8657 and Wirth, Brunhilde
ORCID: 0000-0003-4051-5191
(2018).
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Neurol.-Genet., 4 (1).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 2376-7839
Pujol, Claire, Legrand, Anne ORCID: 0000-0001-5703-3493, Parodi, Livia
ORCID: 0000-0003-0605-2381, Thomas, Priscilla, Mochel, Fanny, Saracino, Dario
ORCID: 0000-0002-4299-9743, Coarelli, Giulia, Croon, Marijana
ORCID: 0000-0001-5797-5413, Popovic, Milica
ORCID: 0000-0002-8762-6967, Valet, Manon, Villain, Nicolas
ORCID: 0000-0002-7429-4289, Elshafie, Shahira
ORCID: 0000-0001-5801-0197, Issa, Mahmoud
ORCID: 0000-0002-3899-2821, Zuily, Stephane, Renaud, Mathilde, Marelli-Tosi, Cecilia, Legendre, Marine, Trimouille, Aurelien, Kemlin, Isabelle, Mathieu, Sophie, Gleeson, Joseph G., Lamari, Foudil, Galatolo, Daniele
ORCID: 0000-0001-9402-2910, Alkouri, Rana, Tse, Chantal, Rodriguez, Diana, Ewenczyk, Claire, Fellmann, Florence, Kuntzer, Thierry, Blond, Emilie, El Hachimi, Khalid H., Darios, Frederic, Seyer, Alexandre, Gazi, Anastasia D., Giavalisco, Patrick, Perin, Silvina, Boucher, Jean-Luc, Le Corre, Laurent, Santorelli, Filippo M., Goizet, Cyril, Zaki, Maha S., Picaud, Serge, Mourier, Arnaud, Steculorum, Sophie Marie, Mignot, Cyril, Durr, Alexandra, Trifunovic, Aleksandra and Stevanin, Giovanni
ORCID: 0000-0001-9368-8657
(2021).
Implication of folate deficiency in CYP2U1 loss of function.
J. Exp. Med., 218 (11).
NEW YORK:
ROCKEFELLER UNIV PRESS.
ISSN 1540-9538