Detalhe da pesquisa
1.
Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes.
Proc Natl Acad Sci U S A
; 120(36): e2302720120, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643212
2.
Comparative whole transcriptome analysis of Parkinson's disease focusing on the efficacy of zonisamide.
J Neurol Neurosurg Psychiatry
; 93(5): 509-512, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35264450
3.
Trans-Ethnic Fine-Mapping of the Major Histocompatibility Complex Region Linked to Parkinson's Disease.
Mov Disord
; 36(8): 1805-1814, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33973677
4.
Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.
Brain
; 143(4): 1190-1205, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32201884
5.
In silico drug screening by using genome-wide association study data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's disease.
Hum Mol Genet
; 27(22): 3974-3985, 2018 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30137437
6.
Genome-wide association study identifies zonisamide responsive gene in Parkinson's disease patients.
J Hum Genet
; 65(8): 693-704, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32355309
7.
Bardet-Biedl syndrome and related disorders in Japan.
J Hum Genet
; 65(10): 847-853, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451492
8.
Wide distribution of alpha-synuclein oligomers in multiple system atrophy brain detected by proximity ligation.
Acta Neuropathol
; 137(3): 455-466, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30721406
9.
Successful electroconvulsive therapy for 22q11.2 deletion syndrome with Schizophrenia and Parkinson's disease.
Psychiatry Clin Neurosci
; 76(11): 603-604, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36057137
10.
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
Am J Med Genet A
; 170A(1): 183-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26419326
11.
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
PLoS Genet
; 8(3): e1002548, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22438815
12.
Anti-neurofascin 155 Antibody-positive Neuropathy in a Human Immunodeficiency Virus-infected Patient.
Intern Med
; 63(4): 565-569, 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37380455
13.
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.
Ann Clin Transl Neurol
; 11(4): 946-957, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316966
14.
YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression.
J Hum Genet
; 58(11): 711-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24026176
15.
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
J Med Genet
; 49(11): 721-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125461
16.
TUBB3 E410K Syndrome With Childhood-Onset Nonalcoholic Steatohepatitis.
J Clin Endocrinol Metab
; 107(1): e38-e43, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435630
17.
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant.
Neurol Genet
; 8(5): e200031, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36176335
18.
Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family.
J Hum Genet
; 56(4): 330-4, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21307863
19.
A case of neurosarcoidosis presenting with multiple cranial neuropathies.
Am J Ophthalmol Case Rep
; 19: 100796, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32637734
20.
Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study.
JAMA Neurol
; 77(6): 746-754, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32310270