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NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Published in:
2022
By:
- Coutelier, Marie;
- Jacoupy, Maxime;
- Janer, Alexandre;
- Renaud, Flore;
- Auger, Nicolas;
- Saripella, Ganapathi-Varma;
- Ancien, François;
- Pucci, Fabrizio;
- Rooman, Marianne;
- Gilis, Dimitri;
- Larivière, Roxanne;
- Sgarioto, Nicolas;
- Valter, Rémi;
- Guillot-Noel, Léna;
- Ber, Isabelle Le;
- Sayah, Sabrina;
- Charles, Perrine;
- Nümann, Astrid;
- Pauly, Martje G;
- Helmchen, Christoph
Publication type:
journal article
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Published in:
Brain: A Journal of Neurology, 2022, v. 145, n. 3, p. 1029, doi. 10.1093/brain/awab386
By:
- Méreaux, Jean-Loup;
- Banneau, Guillaume;
- Papin, Mélanie;
- Coarelli, Giulia;
- Valter, Rémi;
- Raymond, Laure;
- Kol, Bophara;
- Ariste, Olivier;
- Parodi, Livia;
- Tissier, Laurène;
- Mairey, Mathilde;
- Said, Samia Ait;
- Gautier, Celia;
- Guillaud-Bataille, Marine;
- network, the French SPATAX clinical;
- Forlani, Sylvie;
- de la Grange, Pierre;
- Brice, Alexis;
- Vazza, Giovanni;
- Durr, Alexandra
Publication type:
Article
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Published in:
2017
By:
- Coutelier, Marie;
- Coarelli, Giulia;
- Monin, Marie-Lorraine;
- Konop, Juliette;
- Davoine, Claire-Sophie;
- Tesson, Christelle;
- Valter, Rémi;
- Anheim, Mathieu;
- Behin, Anthony;
- Castelnovo, Giovanni;
- Charles, Perrine;
- David, Albert;
- Ewenczyk, Claire;
- Fradin, Mélanie;
- Goizet, Cyril;
- Hannequin, Didier;
- Labauge, Pierre;
- Riant, Florence;
- Sarda, Pierre;
- Sznajer, Yves
Publication type:
journal article
Complications and Discharge after Radical Cystectomy for Older Patients with Muscle-Invasive Bladder Cancer: The ELCAPA-27 Cohort Study.
Published in:
Cancers, 2021, v. 13, n. 23, p. 6010, doi. 10.3390/cancers13236010
By:
- Geiss, Romain;
- Sebaste, Lucrezia;
- Valter, Rémi;
- Poisson, Johanne;
- Mebarki, Soraya;
- Conti, Catherine;
- Vordos, Dimitri;
- Bringuier, Michael;
- Méjean, Arnaud;
- Mongiat-Artus, Pierre;
- Cudennec, Tristan;
- Canoui-Poitrine, Florence;
- Caillet, Philippe;
- Paillaud, Elena
Publication type:
Article
Magnesium in the treatment of alcohol withdrawal syndrome: a multicenter randomized controlled trial.
Published in:
Alcohol & Alcoholism, 2023, v. 58, n. 3, p. 329, doi. 10.1093/alcalc/agad021
By:
- Airagnes, Guillaume;
- Valter, Rémi;
- Ducoutumany, Géraldine;
- Vansteene, Clément;
- Trabut, Jean-Baptiste;
- Gorwood, Philip;
- Dubertret, Caroline;
- Matta, Joane;
- Charles-Nelson, Anais;
- Limosin, Frédéric
Publication type:
Article
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Published in:
Neurogenetics, 2021, v. 22, n. 1, p. 71, doi. 10.1007/s10048-020-00633-2
By:
- Méreaux, Jean-Loup;
- Firanescu, Cristina;
- Coarelli, Giulia;
- Kvarnung, Malin;
- Rodrigues, Rita;
- Pegoraro, Elena;
- Tazir, Meriem;
- Taithe, Frédéric;
- Valter, Rémi;
- Huin, Vincent;
- Lidström, Kristina;
- Banneau, Guillaume;
- Morais, Sara;
- Parodi, Livia;
- Coutelier, Marie;
- Papin, Mélanie;
- Svenningsson, Per;
- Azulay, Jean-Philippe;
- Alonso, Isabel;
- Nilsson, Daniel
Publication type:
Article

Found: 6

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Complications and Discharge after Radical Cystectomy for Older Patients with Muscle-Invasive Bladder Cancer: The ELCAPA-27 Cohort Study.

Magnesium in the treatment of alcohol withdrawal syndrome: a multicenter randomized controlled trial.

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.