Detalhe da pesquisa
1.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
2.
PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.
Brain
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743588
3.
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Genet Med
; 26(6): 101105, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430071
4.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
5.
Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Stroke
; 53(10): 3133-3144, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35862191
6.
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Hum Mol Genet
; 29(11): 1853-1863, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31960911
7.
Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis.
Ann Surg
; 275(6): e781-e788, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33427755
8.
Therapeutic Intervention with Anti-Complement Component 5 Antibody Does Not Reduce NASH but Does Attenuate Atherosclerosis and MIF Concentrations in Ldlr-/-.Leiden Mice.
Int J Mol Sci
; 23(18)2022 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142647
9.
Genetic biomarkers for intravenous immunoglobulin response in chronic inflammatory demyelinating polyradiculoneuropathy.
Eur J Neurol
; 28(5): 1677-1683, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33460483
10.
Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.
Neuropediatrics
; 52(3): 163-169, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111306
11.
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Hum Mol Genet
; 27(20): 3488-3497, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30281091
12.
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Hum Mol Genet
; 27(23): 4036-4050, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30124830
13.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Am J Hum Genet
; 101(3): 441-450, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28823706
14.
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Ann Neurol
; 85(3): 316-330, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706531
15.
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
Mov Disord
; 35(9): 1667-1674, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618053
16.
In Rheumatoid Arthritis, Synovitis at Different Inflammatory Sites Is Dominated by Shared but Patient-Specific T Cell Clones.
J Immunol
; 201(2): 417-422, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891556
17.
Diurnal rhythms in the white adipose tissue transcriptome are disturbed in obese individuals with type 2 diabetes compared with lean control individuals.
Diabetologia
; 62(4): 704-716, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737520
18.
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.
Hum Mol Genet
; 26(11): 2034-2041, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335037
19.
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Hum Mol Genet
; 26(13): 2541-2550, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28449065
20.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Am J Hum Genet
; 99(4): 962-973, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666370