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

Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH18A1 mutation...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Brain
Päätekijät: Coutelier, Marie, Goizet, Cyril, Durr, Alexandra, Habarou, Florence, Morais, Sara, Dionne-Laporte, Alexandre, Tao, Feifei, Konop, Juliette, Stoll, Marion, Charles, Perrine, Jacoupy, Maxime, Matusiak, Raphaël, Alonso, Isabel, Tallaksen, Chantal, Mairey, Mathilde, Kennerson, Marina, Gaussen, Marion, Schule, Rebecca, Janin, Maxime, Morice-Picard, Fanny, Durand, Christelle M., Depienne, Christel, Calvas, Patrick, Coutinho, Paula, Saudubray, Jean-Marie, Rouleau, Guy, Brice, Alexis, Nicholson, Garth, Darios, Frédéric, Loureiro, José L., Zuchner, Stephan, Ottolenghi, Chris, Mochel, Fanny, Stevanin, Giovanni
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2015
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Original Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4553756/
https://ncbi.nlm.nih.gov/pubmed/26026163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv143
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