Detalhe da pesquisa
1.
Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
Neurol Sci
; 45(6): 2705-2710, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38159148
2.
Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.
Hum Mol Genet
; 29(9): 1465-1475, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32280986
3.
Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis.
Mol Psychiatry
; 26(7): 3558-3571, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32839513
4.
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Hum Mol Genet
; 24(24): 6877-85, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26385635
5.
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Clin Endocrinol (Oxf)
; 87(6): 725-732, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28734020
6.
Reliability of information on people with disabilities gathered by community health workers in highly consanguineous communities of Northeastern Brazil.
BMC Health Serv Res
; 17(1): 317, 2017 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28464869
7.
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
J Med Genet
; 52(2): 123-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527630
8.
Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59).
Brain Sci
; 13(7)2023 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508980
9.
Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG.
Orphanet J Rare Dis
; 14(1): 3, 2019 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30616629
10.
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.
Nat Commun
; 9(1): 475, 2018 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396410
11.
Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.
Nat Commun
; 9(1): 1114, 2018 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29535311
12.
Reconsidering the association between the major histocompatibility complex and bipolar disorder.
J Mol Neurosci
; 47(1): 26-30, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21987052
13.
Socio-demographic profile and the licit and illicit drugs use among secondary education students / Perfil sociodemográfico e uso de drogas lícitas e ilícitas entre estudantes do ensino médio / Perfil socio-demográfico y uso de drogas lícitas e ilícitas entre estudiantes de la enseñanza media
SMAD, Rev. eletrônica saúde mental alcool drog
; 9(1): 3-10, Apr. 2013. tab
Artigo
em Inglês
| LILACS, INDEXPSI | ID: lil-702001