Detalhe da pesquisa
1.
TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism.
Alzheimers Dement;
19(7): 2805-2815, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36576960
2.
ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels.
Int J Mol Sci;
24(7)2023 Mar 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37047093
3.
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Brain;
144(9): 2798-2811, 2021 10 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34687211
4.
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Int J Mol Sci;
23(8)2022 Apr 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35457051
5.
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Hum Mutat;
38(3): 297-309, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28008748
6.
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
Acta Neuropathol;
134(3): 475-487, 2017 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28447221
7.
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
Hum Mol Genet;
23(3): 749-54, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24057670
8.
Behavioral Evolution of Progressive Semantic Aphasia in Comparison with Nonfluent Aphasia.
Dement Geriatr Cogn Disord;
41(1-2): 1-8, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26426392
9.
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Am J Hum Genet;
90(3): 434-44, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22387017
10.
Prevalence of cerebral amyloid pathology in persons without dementia: a meta-analysis.
JAMA;
313(19): 1924-38, 2015 May 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25988462
11.
Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion.
Alzheimers Dement;
10(5 Suppl): S284-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24439166
12.
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Alzheimers Res Ther;
16(1): 66, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38539243
13.
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Neurogenetics;
14(3-4): 173-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23644918
14.
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
Hum Genet;
131(12): 1833-40, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22825315
15.
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Biochem Biophys Res Commun;
424(3): 404-8, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22771793
16.
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.
J Neurol Neurosurg Psychiatry;
88(11): 996-997, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28365590
17.
Outcome of mild cognitive impairment comparing early memory profiles.
Am J Geriatr Psychiatry;
20(10): 827-35, 2012 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21934475
18.
Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis.
Alzheimer Dis Assoc Disord;
26(1): 91-5, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22354140
19.
De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer's Disease Associated with Spasticity: A Case Report.
J Alzheimers Dis;
83(3): 1011-1016, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34366350
20.
Visual hallucinations and HLA class II antigens in cortical dementia.
Dement Geriatr Cogn Disord;
30(1): 8-11, 2010.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20606439