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.
PEX11ß and FIS1 cooperate in peroxisome division independently of mitochondrial fission factor.
J Cell Sci
; 135(13)2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678336
3.
Mitochondrial genome study in blood of maternally inherited ALS cases.
Hum Genomics
; 17(1): 70, 2023 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507754
4.
ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.
EMBO Rep
; 23(8): e54234, 2022 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35735139
5.
In-depth analysis of data from the RAS-ALS study reveals new insights in rasagiline treatment for amyotrophic lateral sclerosis.
Eur J Neurol
; 31(4): e16204, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240416
6.
ALS is imprinted in the chromatin accessibility of blood cells.
Cell Mol Life Sci
; 80(5): 131, 2023 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37095391
7.
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.
Neurogenetics
; 24(3): 209-213, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341843
8.
Neurofilament light-chain response during therapy with antisense oligonucleotide tofersen in SOD1-related ALS: Treatment experience in clinical practice.
Muscle Nerve
; 67(6): 515-521, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928619
9.
Performance of serum neurofilament light chain in a wide spectrum of clinical courses of amyotrophic lateral sclerosis-a cross-sectional multicenter study.
Eur J Neurol
; 30(6): 1600-1610, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36899448
10.
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
11.
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.
Mov Disord
; 37(12): 2427-2439, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36148898
12.
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
13.
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
14.
T-cell dysregulation is associated with disease severity in Parkinson's Disease.
J Neuroinflammation
; 18(1): 250, 2021 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34717679
15.
Effect of High-Caloric Nutrition on Survival in Amyotrophic Lateral Sclerosis.
Ann Neurol
; 87(2): 206-216, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31849093
16.
Targeted Mass Spectrometry Suggests Beta-Synuclein as Synaptic Blood Marker in Alzheimer's Disease.
J Proteome Res
; 19(3): 1310-1318, 2020 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32101007
17.
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
18.
Increased Immune Activation by Pathologic α-Synuclein in Parkinson's Disease.
Ann Neurol
; 86(4): 593-606, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343083
19.
Proteomics in cerebrospinal fluid and spinal cord suggests UCHL1, MAP2 and GPNMB as biomarkers and underpins importance of transcriptional pathways in amyotrophic lateral sclerosis.
Acta Neuropathol
; 139(1): 119-134, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701227
20.
Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.
J Neurol Neurosurg Psychiatry
; 91(5): 503-511, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32132225