Detalhe da pesquisa
1.
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.
Mol Psychiatry
; 21(8): 1112-24, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26481318
2.
[A Pair of Siblings with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis and a Novel Thr462Lysfs Mutation in the TBK1 Gene]. / Ein Geschwisterpaar mit frontotemporaler Lobärdegeneration und amyotropher Lateralsklerose und einer neuen Mutation im TBK1-Gen (Thr462Lysfs).
Fortschr Neurol Psychiatr
; 84(8): 494-8, 2016 Aug.
Artigo
em Alemão
| MEDLINE | ID: mdl-27570907
3.
Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology.
Mol Psychiatry
; 18(11): 1225-34, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23399914
4.
Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites.
Mol Psychiatry
; 17(2): 223-33, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21403675
5.
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
Nat Genet
; 28(3): 211-2, 2001 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-11431686
6.
Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease.
Nat Genet
; 7(1): 74-8, 1994 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-8075646
7.
Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3.
Nat Genet
; 2(4): 335-9, 1992 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-1303290
8.
APOE and Alzheimer disease: a major gene with semi-dominant inheritance.
Mol Psychiatry
; 16(9): 903-7, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21556001
9.
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
Eur J Neurol
; 18(2): 207-217, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20500522
10.
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
Eur J Neurol
; 17(5): 641-8, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20298421
11.
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
Eur J Neurol
; 17(2): 179-88, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20050888
12.
TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy.
Neuropathol Appl Neurobiol
; 40(2): 225-30, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692129
13.
Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families.
Mol Psychiatry
; 13(4): 442-50, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17579605
14.
Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch).
Science
; 248(4959): 1120-2, 1990 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-1971458
15.
Fabry disease in a patient with Turner syndrome.
J Inherit Metab Dis
; 32 Suppl 1: S45-8, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19343533
16.
EFNS guidelines on the molecular diagnosis of mitochondrial disorders.
Eur J Neurol
; 16(12): 1255-64, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19950421
17.
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias.
Eur J Neurol
; 16(7): 777-85, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19469830
18.
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Neuron
; 17(3): 451-60, 1996 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-8816708
19.
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Hum Mutat
; 29(12): 1373-86, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18543312
20.
Progranulin locus deletion in frontotemporal dementia.
Hum Mutat
; 29(1): 53-8, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18157829