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Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Freua F, Almeida MEC, Nóbrega PR, Paiva ARB, Della-Ripa B, Cunha P, Macedo-Souza LI, Bueno C, Lynch DS, Houlden H, Lucato LT, Kok F. Freua F, et al. Among authors: macedo souza li. Cold Spring Harb Mol Case Stud. 2022 Sep 30;8(6):a006232. doi: 10.1101/mcs.a006232. Online ahead of print. Cold Spring Harb Mol Case Stud. 2022. PMID: 36180229 Free PMC article.
Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.
Pedroso JL, Rocha CR, Macedo-Souza LI, De Mario V, Marques W Jr, Barsottini OG, Bulle Oliveira AS, Menck CF, Kok F. Pedroso JL, et al. Neurol Genet. 2015 Oct 22;1(4):e30. doi: 10.1212/NXG.0000000000000030. eCollection 2015 Dec. Neurol Genet. 2015. PMID: 27066567 Free PMC article.
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Merwick A, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison PJ, Hughes D, Pittman A, Laurà M, Reilly MM, Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H. Lynch DS, et al. Brain. 2017 May 1;140(5):1204-1211. doi: 10.1093/brain/awx045. Brain. 2017. PMID: 28334938 Free PMC article.
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