Detalhe da pesquisa
1.
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
J Neurosci Res
; 94(4): 339-47, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26762174
2.
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Mov Disord
; 30(6): 828-33, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25545912
3.
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
Hum Mol Genet
; 21(12): 2646-50, 2012 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22388936
4.
R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.
Alzheimers Dement
; 10(6): 602-608.e4, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25160042
5.
Alzheimer's disease genetics: lessons to improve disease modelling.
Biochem Soc Trans
; 39(4): 910-6, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21787322
6.
A thorough assessment of benign genetic variability in GRN and MAPT.
Hum Mutat
; 31(2): E1126-40, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20020531
7.
A case of dementia with PRNP D178Ncis-129M and no insomnia.
Alzheimer Dis Assoc Disord
; 23(4): 415-7, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19571725
8.
An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers.
Front Aging Neurosci
; 10: 7, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29441010
9.
CLN8 disease caused by large genomic deletions.
Mol Genet Genomic Med
; 5(1): 85-91, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-28116333
10.
Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.
BMC Neurol
; 6: 24, 2006 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-16824219
11.
Mutation of TBCK causes a rare recessive developmental disorder.
Neurol Genet
; 2(3): e76, 2016 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-27275012
12.
Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation.
Mov Disord Clin Pract
; 1(1): 45-49, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30363821
13.
The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.
Neurobiol Aging
; 33(3): 437-56, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20594621
14.
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
Neurobiol Aging
; 33(8): 1850.e17-27, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22503161
15.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Neuron
; 72(2): 257-68, 2011 Oct 20.
Artigo
Inglês
| MEDLINE | ID: mdl-21944779
16.
Genetic variability in CLU and its association with Alzheimer's disease.
PLoS One
; 5(3): e9510, 2010 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-20209083
17.
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
PLoS One
; 3(6): e2450, 2008 Jun 11.
Artigo
Inglês
| MEDLINE | ID: mdl-18545701
18.
TOMM40 association with Alzheimer disease: tales of APOE and linkage disequilibrium.
Arch Neurol
; 69(10): 1243-4, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22869030