Detalhe da pesquisa
1.
Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients.
Hum Mol Genet
; 27(17): 2965-2977, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790959
2.
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
3.
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
4.
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
5.
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
6.
Incidence and impact of subclinical epileptiform activity in Alzheimer's disease.
Ann Neurol
; 80(6): 858-870, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27696483
7.
Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.
Acta Neuropathol
; 134(5): 813-816, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28828560
8.
Frontotemporal dementia spectrum: first genetic screen in a Greek cohort.
Neurobiol Aging
; 75: 224.e1-224.e8, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30528349
9.
Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer's Disease.
J Alzheimers Dis
; 58(4): 1035-1041, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550247
10.
A novel PSEN1 (S230N) mutation causing early-onset Alzheimer's Disease associated with prosopagnosia, hoarding, and Parkinsonism.
Neurosci Lett
; 657: 11-15, 2017 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28764909
11.
Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.
J Neuropathol Exp Neurol
; 75(3): 284-90, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26888304