Detalhe da pesquisa
1.
An integrative miRNA-mRNA expression analysis identifies miRNA signatures associated with SOD1 and TARDBP patient-derived motor neurons.
Hum Mol Genet
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676626
2.
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.
Neurogenetics
; 23(1): 59-65, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518945
3.
Update on genetics of amyotrophic lateral sclerosis.
Curr Opin Neurol
; 35(5): 672-677, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35942673
4.
De novo mutations in SOD1 are a cause of ALS.
J Neurol Neurosurg Psychiatry
; 93(2): 201-206, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518333
5.
A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis.
Brain
; 144(4): 1214-1229, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33871026
6.
Downstream Effects of Mutations in SOD1 and TARDBP Converge on Gene Expression Impairment in Patient-Derived Motor Neurons.
Int J Mol Sci
; 23(17)2022 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077049
7.
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Hum Mol Genet
; 27(4): 706-715, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315381
8.
Morbus Fabry and Parkinson's Disease-More Evidence for a Possible Genetic Link.
Mov Disord
; 39(2): 449-451, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38226450
9.
Hot-spot KIF5A mutations cause familial ALS.
Brain
; 141(3): 688-697, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342275
10.
Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS.
Cell Mol Life Sci
; 75(23): 4301-4319, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030593
11.
Impaired activation of ALS monocytes by exosomes.
Immunol Cell Biol
; 95(2): 207-214, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616750
12.
Age-dependent defects of alpha-synuclein oligomer uptake in microglia and monocytes.
Acta Neuropathol
; 131(3): 379-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26576561
13.
Peripheral monocytes are functionally altered and invade the CNS in ALS patients.
Acta Neuropathol
; 132(3): 391-411, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26910103
14.
Profilin 1 with the amyotrophic lateral sclerosis associated mutation T109M displays unaltered actin binding and does not affect the actin cytoskeleton.
BMC Neurosci
; 16: 77, 2015 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26572741
15.
Extracellular vesicle sorting of α-Synuclein is regulated by sumoylation.
Acta Neuropathol
; 129(5): 695-713, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25778619
16.
Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers.
Brain
; 137(Pt 11): 2938-50, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25193138
17.
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
Brain
; 142(12): e67, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31612906
18.
A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice.
J Exp Med
; 221(5)2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38517332
19.
Effects of tofersen treatment in patients with SOD1-ALS in a "real-world" setting - a 12-month multicenter cohort study from the German early access program.
EClinicalMedicine
; 69: 102495, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38384337
20.
Enhanced in vitro translation at reduced temperatures using a cold-shock RNA motif.
Biotechnol Lett
; 35(3): 389-95, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143178