Detalhe da pesquisa
1.
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Mov Disord
; 38(11): 2103-2115, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37605305
2.
The intellectual disability PAK3 R67C mutation impacts cognitive functions and adult hippocampal neurogenesis.
Hum Mol Genet
; 29(12): 1950-1968, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943058
3.
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
BMC Neurol
; 22(1): 53, 2022 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151251
4.
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Hum Mutat
; 39(1): 140-151, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29034544
5.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
6.
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Ann Neurol
; 78(6): 871-86, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26288984
7.
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Brain
; 138(Pt 8): 2191-205, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026163
8.
A multi-criteria decision making approach to identify a vaccine formulation.
J Biopharm Stat
; 26(2): 352-64, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616785
9.
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Nat Genet
; 39(1): 25-7, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17173049
10.
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Am J Hum Genet
; 91(6): 1051-64, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176821
11.
Baseline prevalence and type distribution of human papillomavirus in healthy Chinese women aged 18-25 years enrolled in a clinical trial.
Int J Cancer
; 135(11): 2604-11, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24740547
12.
Selection of an adjuvant for seasonal influenza vaccine in elderly people: modelling immunogenicity from a randomized trial.
BMC Infect Dis
; 13: 348, 2013 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23890405
13.
Risk of Developing Non-Cancerous Central Nervous System Diseases Due to Ionizing Radiation Exposure during Adulthood: Systematic Review and Meta-Analyses.
Brain Sci
; 12(8)2022 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35892428
14.
Development of an adverse outcome pathway for radiation-induced microcephaly via expert consultation and machine learning.
Int J Radiat Biol
; 98(12): 1752-1762, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947014
15.
The planar polarity protein Scribble1 is essential for neuronal plasticity and brain function.
J Neurosci
; 30(29): 9738-52, 2010 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20660256
16.
Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
J Pineal Res
; 51(4): 394-9, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21615493
17.
Targeted Dorsal Dentate Gyrus or Whole Brain Irradiation in Juvenile Mice Differently Affects Spatial Memory and Adult Hippocampal Neurogenesis.
Biology (Basel)
; 10(3)2021 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33806303
18.
An investigation of ribosomal protein L10 gene in autism spectrum disorders.
BMC Med Genet
; 10: 7, 2009 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-19166581
19.
Bacterial contamination in the environment of hospitalised children with cystic fibrosis.
J Cyst Fibros
; 7(6): 477-82, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18550452
20.
Analysis of X chromosome inactivation in autism spectrum disorders.
Am J Med Genet B Neuropsychiatr Genet
; 147B(6): 830-5, 2008 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18361425