Detalhe da pesquisa
1.
Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.
Eur J Neurol
; 30(8): 2240-2249, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37159497
2.
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
Hum Mol Genet
; 29(13): 2200-2217, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504093
3.
Genetic testing in motor neurone disease.
Pract Neurol
; 22(2): 107-116, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027459
4.
Two case reports of distal upper limb weakness following influenza-like illness: an emerging pattern of para-infectious myositis in adults.
BMC Neurol
; 20(1): 237, 2020 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32522188
5.
Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction.
Neurobiol Dis
; 121: 148-162, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290270
6.
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.
Brain
; 140(4): 887-897, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334866
7.
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Stem Cells
; 34(8): 2063-78, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27097283
8.
C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9.
Nat Commun
; 14(1): 5898, 2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37736756
9.
What is the role of TDP-43 in C9orf72-related amyotrophic lateral sclerosis and frontemporal dementia?
Brain
; 139(Pt 12): 3057-3059, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27913405
10.
Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation.
Cell Stem Cell
; 29(1): 11-35, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34995492
11.
Human iPSC co-culture model to investigate the interaction between microglia and motor neurons.
Sci Rep
; 12(1): 12606, 2022 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871163
12.
Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain.
Brain Commun
; 4(1): fcac029, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224491
13.
Pattern of spread and prognosis in lower limb-onset ALS.
Amyotroph Lateral Scler
; 11(4): 369-73, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20001488
14.
Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.
Stem Cell Reports
; 14(5): 892-908, 2020 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330447
15.
Embryonic progenitor pools generate diversity in fine-scale excitatory cortical subnetworks.
Nat Commun
; 10(1): 5224, 2019 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31745093
16.
TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophy.
BMC Neurosci
; 9: 104, 2008 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-18957104
17.
Amyotrophic lateral sclerosis: the complex path to precision medicine.
J Neurol
; 265(10): 2454-2462, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054789
18.
Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis.
EBioMedicine
; 33: 169-184, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29941342
19.
The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis.
J Neurol Sci
; 294(1-2): 81-5, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20452624