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PINK1/Parkin-Dependent Mitochondrial Surveillance: From Pleiotropy to Parkinson's Disease.
Published in:
Frontiers in Molecular Neuroscience, 2017, v. 10, p. 1, doi. 10.3389/fnmol.2017.00120
By:
- Mouton-Liger, Francois;
- Jacoupy, Maxime;
- Corvo, Jean-Christophe;
- Corti, Olga
Publication type:
Article
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
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Published in:
2015
By:
- Coutelier, Marie;
- Goizet, Cyril;
- Durr, Alexandra;
- Habarou, Florence;
- Morais, Sara;
- Dionne-Laporte, Alexandre;
- Feifei Tao;
- Konop, Juliette;
- Stoll, Marion;
- Charles, Perrine;
- Jacoupy, Maxime;
- Matusiak, Raphael;
- Alonso, Isabel;
- Tallaksen, Chantal;
- Mairey, Mathilde;
- Kennerson, Marina;
- Gaussen, Marion;
- Schule, Rebecca;
- Janin, Maxime;
- Morice-Picard, Fanny
Publication type:
journal article
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03059-3
By:
- Atalaia, Antonio;
- Wandrei, Dagmar;
- Lalout, Nawel;
- Thompson, Rachel;
- Tassoni, Adrian;
- 't Hoen, Peter A. C.;
- Athanasiou, Dimitrios;
- Baker, Suzie-Ann;
- Sakellariou, Paraskevi;
- Paliouras, Georgios;
- D'Angelo, Carla;
- Horvath, Rita;
- Mancuso, Michelangelo;
- van der Beek, Nadine;
- Kornblum, Cornelia;
- Kirschner, Janbernd;
- Pareyson, Davide;
- Bassez, Guillaume;
- Blacas, Laura;
- Jacoupy, Maxime
Publication type:
Article
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Published in:
Annals of Neurology, 2022, v. 92, n. 1, p. 122, doi. 10.1002/ana.26366
By:
- Barbier, Mathieu;
- Bahlo, Melanie;
- Pennisi, Alessandra;
- Jacoupy, Maxime;
- Tankard, Rick M.;
- Ewenczyk, Claire;
- Davies, Kayli C.;
- Lino‐Coulon, Patricia;
- Colace, Claire;
- Rafehi, Haloom;
- Auger, Nicolas;
- Ansell, Brendan R. E.;
- van der Stelt, Ivo;
- Howell, Katherine B.;
- Coutelier, Marie;
- Amor, David J.;
- Mundwiller, Emeline;
- Guillot‐Noël, Lena;
- Storey, Elsdon;
- Gardner, R. J. McKinlay
Publication type:
Article

Found: 5

PINK1/Parkin-Dependent Mitochondrial Surveillance: From Pleiotropy to Parkinson's Disease.

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

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.