SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic Paraplegia. The disease has a wide phenotypic variability indicating many regions of the nervous system besides the corticospinal tract are affected. Despite this, anatomical and phenotypic characterization is restricted....

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發表在:Neuroimage Clin
Main Authors: Faber, Ingrid, Martinez, Alberto Rolim Muro, de Rezende, Thiago Junqueira Ribeiro, Martins, Carlos Roberto, Martins, Melina Pazian, Lourenço, Charles Marques, Marques, Wilson, Montecchiani, Celeste, Orlacchio, Antonio, Pedroso, Jose Luiz, Barsottini, Orlando Graziani Povoas, Lopes-Cendes, Íscia, França, Marcondes Cavalcante
格式: Artigo
語言:Inglês
出版: Elsevier 2018
主題:
Regular Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6008284/
https://ncbi.nlm.nih.gov/pubmed/29946510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nicl.2018.05.031
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