Detalhe da pesquisa
1.
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
Brain
; 2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38226698
2.
Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
Acta Neuropathol
; 145(6): 749-772, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37115208
3.
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Am J Hum Genet
; 98(6): 1146-1158, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259050
4.
An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
Muscle Nerve
; 57(5): 859-862, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236290
5.
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Am J Hum Genet
; 93(4): 631-40, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24055113
6.
Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.
Alzheimers Dement
; 12(1): 2-10, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365416
7.
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Hum Mol Genet
; 22(16): 3259-68, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23595882
8.
Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.
Hum Genet
; 134(10): 1055-68, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26204995
9.
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Ann Neurol
; 75(4): 542-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700542
10.
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
PLoS Genet
; 7(11): e1002334, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22102821
11.
Genome scan for cognitive trait loci of dyslexia: Rapid naming and rapid switching of letters, numbers, and colors.
Am J Med Genet B Neuropsychiatr Genet
; 165B(4): 345-56, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24807833
12.
Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.
Mov Disord Clin Pract
; 11(6): 728-733, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38594844
13.
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
Hum Mutat
; 34(12): 1672-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24027063
14.
Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study.
Clin Linguist Phon
; 27(3): 192-212, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23339292
15.
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech.
Clin Linguist Phon
; 27(3): 163-91, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23339324
16.
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.
J Neurol Sci
; 452: 120763, 2023 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598468
17.
A data-fusion approach to identifying developmental dyslexia from multi-omics datasets.
bioRxiv
; 2023 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909570
18.
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Neurol Genet
; 9(5): e200090, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560121
19.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Ann Clin Transl Neurol
; 10(6): 1046-1053, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37194416
20.
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
Am J Hum Genet
; 84(5): 692-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19409521