Detalhe da pesquisa
1.
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes.
Brain
; 146(10): 4055-4064, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37100087
2.
Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging.
Acta Neuropathol
; 145(3): 285-302, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36527486
3.
Impact of Postsurgical Opioid Prescription Reduction in General Surgery Patients.
Hosp Pharm
; 58(4): 389-391, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37360196
4.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Genome Res
; 27(11): 1895-1903, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28887402
5.
Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation.
Neurocase
; 26(4): 211-219, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32602775
6.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Acta Neuropathol
; 137(6): 879-899, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739198
7.
Correction to: Accumulation of TMEM106B Cterminal fragments in neurodegenerative disease and aging.
Acta Neuropathol
; 145(3): 369-370, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36607424
8.
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Acta Neuropathol
; 130(1): 77-92, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943890
9.
Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.
Eur J Neurol
; 22(2): 328-333, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25311247
10.
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.
Neurogenetics
; 15(1): 23-30, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24135862
11.
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Hum Mol Genet
; 21(15): 3500-12, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22556362
12.
Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?
Neurocase
; 20(1): 69-86, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-23121543
13.
ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.
Eur Neurol
; 72(1-2): 64-71, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24861139
14.
Evaluation of a hybrid protocol using continuous glucose monitoring and point-of-care testing in non-critically ill patients in a community hospital.
Am J Health Syst Pharm
; 81(9): e261-e267, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38146957
15.
Progression to corticobasal syndrome: a longitudinal study of patients with nonfluent primary progressive aphasia and primary progressive apraxia of speech.
J Neurol
; 2024 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38583104
16.
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
17.
TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.
J Neurochem
; 126(6): 781-91, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23742080
18.
Ataxin-2 repeat-length variation and neurodegeneration.
Hum Mol Genet
; 20(16): 3207-12, 2011 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21610160
19.
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
Am J Hum Genet
; 87(6): 890-7, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21087763
20.
Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.
Acta Neuropathol
; 126(4): 545-54, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23922030