Literature DB >> 27979337

Rare advances for rare diseases.

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Year:  2017        PMID： 27979337     DOI： 10.1016/S1474-4422(16)30352-0

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN： 1474-4422            Impact factor:   44.182


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  2 in total

1.  Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Authors:  Devesh C Pant; Imen Dorboz; Agatha Schluter; Stéphane Fourcade; Nathalie Launay; Javier Joya; Sergio Aguilera-Albesa; Maria Eugenia Yoldi; Carlos Casasnovas; Mary J Willis; Montserrat Ruiz; Dorothée Ville; Gaetan Lesca; Karine Siquier-Pernet; Isabelle Desguerre; Huifang Yan; Jingmin Wang; Margit Burmeister; Lauren Brady; Mark Tarnopolsky; Carles Cornet; Davide Rubbini; Javier Terriente; Kiely N James; Damir Musaev; Maha S Zaki; Marc C Patterson; Brendan C Lanpher; Eric W Klee; Filippo Pinto E Vairo; Elizabeth Wohler; Nara Lygia de M Sobreira; Julie S Cohen; Reza Maroofian; Hamid Galehdari; Neda Mazaheri; Gholamreza Shariati; Laurence Colleaux; Diana Rodriguez; Joseph G Gleeson; Cristina Pujades; Ali Fatemi; Odile Boespflug-Tanguy; Aurora Pujol
Journal:  J Clin Invest       Date:  2019-02-11       Impact factor: 14.808

Review 2.  The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review.

Authors:  Christina Q Nguyen; Kristine Alba-Concepcion; Elizabeth E Palmer; Jackie L Scully; Nicole Millis; Michelle A Farrar
Journal:  Orphanet J Rare Dis       Date:  2022-04-18       Impact factor: 4.303
  2 in total

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