Detalhe da pesquisa
1.
C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation.
EMBO J
; 41(1): e105026, 2022 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791698
2.
Unleashing the potential of mRNA therapeutics for inherited neurological diseases.
Brain
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662782
3.
Genetic variability in sporadic amyotrophic lateral sclerosis.
Brain
; 146(9): 3760-3769, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043475
4.
Relationship between cerebrospinal fluid/serum albumin quotient and phenotype in amyotrophic lateral sclerosis: a retrospective study on 328 patients.
Neurol Sci
; 44(5): 1679-1685, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646859
5.
Cerebrospinal fluid/serum albumin quotient (Q-Alb) is not increased in Alzheimer's disease compared to neurological disease controls: a retrospective study on 276 patients.
Neurol Sci
; 44(2): 709-713, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36441343
6.
Lower semantic fluency scores and a phonemic-over-semantic advantage predict abnormal CSF P-tau181 levels in Aß + patients within the Alzheimer's disease clinical spectrum.
Neurol Sci
; 44(6): 1979-1985, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36705785
7.
Influence of kidney function and CSF/serum albumin ratio on plasma Aß42 and Aß40 levels measured on a fully automated platform in patients with Alzheimer's disease.
Neurol Sci
; 44(9): 3287-3290, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284933
8.
Phosphorylated tau in plasma could be a biomarker of lower motor neuron impairment in amyotrophic lateral sclerosis.
Neurol Sci
; 44(10): 3697-3702, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369876
9.
A + T ± status across MCI and dementia due to AD: a clinic-based, retrospective study.
Neurol Sci
; 43(11): 6547-6550, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35972620
10.
CSF Aß40 and P-Tau181 Might Differentiate Atypical from Typical AD Phenotypes: Preliminary Evidence.
Neurodegener Dis
; 22(2): 83-86, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36108600
11.
TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis.
Int J Mol Sci
; 23(16)2022 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012536
12.
Reprogramming fibroblasts and peripheral blood cells from a C9ORF72 patient: A proof-of-principle study.
J Cell Mol Med
; 24(7): 4051-4060, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32125773
13.
Chronic stress induces formation of stress granules and pathological TDP-43 aggregates in human ALS fibroblasts and iPSC-motoneurons.
Neurobiol Dis
; 145: 105051, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827688
14.
PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survival.
Neurol Sci
; 40(7): 1469-1473, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903418
15.
Inter-Species Differences in Regulation of the Progranulin-Sortilin Axis in TDP-43 Cell Models of Neurodegeneration.
Int J Mol Sci
; 20(23)2019 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31766750
16.
Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis.
Ann Neurol
; 82(1): 139-146, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28628244
17.
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Nature
; 488(7412): 499-503, 2012 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-22801503
18.
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.
Neurodegener Dis
; 18(1): 38-48, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29428949
19.
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Hum Mutat
; 38(11): 1534-1541, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714244
20.
The oligogenic model of amyotrophic lateral sclerosis; phenotypes of three Tunisian families.
Clin Genet
; 102(6): 555-556, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36028943