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Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome

OBJECTIVE: Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of SHANK3 on terminal chromosome 22. Knowledge about altered neuroanatomical circuitry in PMS comes from mouse models showing striatal hypertrophy in the basal ganglia, and from humans with evidence of cerebellar atrophy. To d...

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Detalhes bibliográficos
Publicado no:Pediatr Neurol
Main Authors: Srivastava, Siddharth, Scherrer, Benoit, Prohl, Anna K., Filip-Dhima, Rajna, Kapur, Kush, Kolevzon, Alexander, Buxbaum, Joseph D., Berry-Kravis, Elizabeth, Soorya, Latha, Thurm, Audrey, Powell, Craig M., Bernstein, Jonathan A, Warfield, Simon K., Sahin, Mustafa
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6309632/
https://ncbi.nlm.nih.gov/pubmed/30396833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2018.09.008
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