Detalhe da pesquisa
1.
A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA.
Nucleic Acids Res;
49(19): 11103-11118, 2021 11 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34614167
2.
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Am J Hum Genet;
97(3): 465-74, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26279204
3.
Cognitive impairment in progressive supranuclear palsy is associated with tau burden.
Mov Disord;
32(12): 1772-1779, 2017 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29082658
4.
Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.
Mov Disord;
32(1): 115-123, 2017 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27709685
5.
Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy.
Mov Disord;
32(2): 246-255, 2017 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28009087
6.
Oxidative stress is not a major contributor to somatic mitochondrial DNA mutations.
PLoS Genet;
10(2): e1003974, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24516391
7.
Genetics of FTLD: overview and what else we can expect from genetic studies.
J Neurochem;
138 Suppl 1: 32-53, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27009575
8.
Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.
Neurodegener Dis;
16(1-2): 12-21, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26550830
9.
A novel tau mutation, p.K317N, causes globular glial tauopathy.
Acta Neuropathol;
130(2): 199-214, 2015 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25900293
10.
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.
Hum Mutat;
35(8): 964-71, 2014 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24796542
11.
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
12.
Frequencies and spectra of aflatoxin B1-induced mutations in liver genomes of NEIL1-deficient mice as revealed by duplex sequencing.
NAR Mol Med;
1(2): ugae006, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38779538
13.
Relationships between lewy and tau pathologies in 375 consecutive non-Alzheimer's olfactory bulbs.
Mov Disord;
33(2): 333-334, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29322556
14.
The multi-tissue landscape of somatic mtDNA mutations indicates tissue-specific accumulation and removal in aging.
Elife;
122023 02 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36799304
15.
The Complicated Nature of Somatic mtDNA Mutations in Aging.
Front Aging;
22022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35252966
16.
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci.
Mol Neurodegener;
13(1): 37, 2018 07 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29986742
17.
APOE ε2 is associated with increased tau pathology in primary tauopathy.
Nat Commun;
9(1): 4388, 2018 10 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30348994
18.
Age-related length variability of polymorphic CAG repeats.
DNA Repair (Amst);
49: 26-32, 2017 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27865706
19.
Brain calcifications and PCDH12 variants.
Neurol Genet;
3(4): e166, 2017 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28804758
20.
Tremor in progressive supranuclear palsy.
Parkinsonism Relat Disord;
27: 93-7, 2016 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27039056