Detalhe da pesquisa
1.
Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment.
J Neurosci
; 43(2): 333-345, 2023 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446586
2.
Network Connectivity Alterations across the MAPT Mutation Clinical Spectrum.
Ann Neurol
; 94(4): 632-646, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37431188
3.
Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant.
Neurocase
; 30(1): 39-47, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757415
4.
Evidence of corticofugal tau spreading in patients with frontotemporal dementia.
Acta Neuropathol
; 139(1): 27-43, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31542807
5.
Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort.
Alzheimers Dement
; 16(8): 1115-1124, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656921
6.
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Alzheimers Dement
; 16(1): 118-130, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914217
7.
The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology.
Alzheimers Dement
; 16(1): 22-36, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636026
8.
Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.
Neurogenetics
; 20(2): 99-102, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895394
9.
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
Acta Neuropathol
; 137(1): 71-88, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30382371
10.
Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders.
Alzheimer Dis Assoc Disord
; 33(4): 327-330, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513029
11.
Genetic screen in a large series of patients with primary progressive aphasia.
Alzheimers Dement
; 15(4): 553-560, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30599136
12.
A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction.
Brain
; 140(4): 1128-1146, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334843
13.
Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer's disease.
Neurocase
; 23(1): 65-69, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376694
14.
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
15.
Chromosome substitution strain assessment of a Huntington's disease modifier locus.
Mamm Genome
; 26(3-4): 119-30, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25645993
16.
Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.
Bipolar Disord
; 17(4): 403-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25726852
17.
Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.
Am J Med Genet B Neuropsychiatr Genet
; 168B(2): 135-43, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25656686
18.
Modification of Huntington's disease by short tandem repeats.
Brain Commun
; 6(2): fcae016, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38449714
19.
Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium.
Neurobiol Aging
; 134: 135-145, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091751
20.
Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration.
medRxiv
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38633784