Detalhe da pesquisa
1.
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
Nature;
594(7861): 117-123, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34012113
2.
The Intellectual Disability Risk Gene Kdm5b Regulates Long-Term Memory Consolidation in the Hippocampus.
J Neurosci;
44(19)2024 May 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38575342
3.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Am J Hum Genet;
106(3): 412-421, 2020 03 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32142645
4.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Genet Med;
25(2): 100332, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36520152
5.
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Brain;
145(12): 4349-4367, 2022 12 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36074904
6.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Ann Neurol;
89(6): 1240-1247, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33704825
7.
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Genet Med;
23(9): 1636-1647, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34145395
8.
Impaired Pre-Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1-Linked Dyskinesia.
Mov Disord;
36(5): 1158-1169, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33449381
9.
Community-based genetic study of Parkinson's disease in Estonia.
Acta Neurol Scand;
143(1): 89-95, 2021 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32740907
10.
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Mol Biol Rep;
48(3): 2093-2104, 2021 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33742325
11.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Genome Res;
27(11): 1895-1903, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28887402
12.
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Brain;
142(9): 2828-2844, 2019 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31324919
13.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Am J Hum Genet;
98(4): 763-71, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27058447
14.
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Ann Neurol;
84(4): 485-496, 2018 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30066433
15.
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
J Neurol Neurosurg Psychiatry;
90(3): 268-271, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30270202
16.
Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling.
J Am Acad Dermatol;
90(6): 1279-1280, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38360177
17.
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Hum Mol Genet;
25(24): 5483-5489, 2016 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27798102
18.
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Am J Hum Genet;
96(6): 938-47, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25983243
19.
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Brain;
140(6): 1611-1618, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28430856
20.
Clinical and genetic characterization of leukoencephalopathies in adults.
Brain;
140(5): 1204-1211, 2017 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28334938