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186 results

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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Schöls L, et al. Among authors: marques w. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. Brain. 2017. PMID: 29126212 Free PMC article. Clinical Trial.
The phenotypic manifestations of chromosome 17p11.2 duplication.
Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RH, Bradley JL, Muddle JR, Tyson J, Malcolm S, Harding AE. Thomas PK, et al. Among authors: marques w jr. Brain. 1997 Mar;120 ( Pt 3):465-78. doi: 10.1093/brain/120.3.465. Brain. 1997. PMID: 9126058
Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease.
França MC Jr, Emmel VE, D'Abreu A, Maurer-Morelli CV, Secolin R, Bonadia LC, da Silva MS, Nucci A, Jardim LB, Saraiva-Pereira ML, Marques W Jr, Paulson H, Lopes-Cendes I. França MC Jr, et al. Among authors: marques w jr. Front Neurol. 2012 Nov 19;3:164. doi: 10.3389/fneur.2012.00164. eCollection 2012. Front Neurol. 2012. PMID: 23181052 Free PMC article.
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G. Boukhris A, et al. Among authors: marques w jr. Am J Hum Genet. 2013 Jul 11;93(1):118-23. doi: 10.1016/j.ajhg.2013.05.006. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746551 Free PMC article.
Quality of life in patients with Charcot-Marie-Tooth disease type 1A.
Taniguchi JB, Elui VM, Osório FL, Hallak JE, Crippa JA, Machado-de-Sousa JP, Kebbe LM, Lourenço CM, Scarel-Caminaga RM, Marques W Jr. Taniguchi JB, et al. Among authors: marques w jr. Arq Neuropsiquiatr. 2013 Jun;71(6):392-6. doi: 10.1590/0004-282X20130045. Arq Neuropsiquiatr. 2013. PMID: 23828533 Free article.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center; Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Landouré G, et al. Among authors: marques w jr. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23857908 Free PMC article.
186 results