Detalhe da pesquisa
1.
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
Brain
; 145(8): 2671-2676, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35521889
2.
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Eur J Neurol
; 2022 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484631
3.
Molecular Alterations in Sporadic and SOD1-ALS Immortalized Lymphocytes: Towards a Personalized Therapy.
Int J Mol Sci
; 22(6)2021 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33809456
4.
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.
J Neurol Neurosurg Psychiatry
; 89(2): 162-168, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889094
5.
Comparative study of hematopoietic stem and progenitor cells between sexes in mice under physiological conditions along time.
Cell Biol Int
; 41(12): 1399-1405, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28851070
6.
Granulocyte Colony-Stimulating Factor Ameliorates Skeletal Muscle Dysfunction in Amyotrophic Lateral Sclerosis Mice and Improves Proliferation of SOD1-G93A Myoblasts in vitro.
Neurodegener Dis
; 17(1): 1-13, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27544379
7.
Hematopoietic stem and progenitor cells as novel prognostic biomarkers of longevity in a murine model for amyotrophic lateral sclerosis.
Am J Physiol Cell Physiol
; 311(6): C910-C919, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27681176
8.
Neuregulin-1 promotes functional improvement by enhancing collateral sprouting in SOD1(G93A) ALS mice and after partial muscle denervation.
Neurobiol Dis
; 95: 168-78, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27461051
9.
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
Hum Mol Genet
; 23(3): 749-54, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24057670
10.
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.
Biomedicines
; 12(2)2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397958
11.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Hum Mutat
; 34(1): 79-82, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22936364
12.
The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis.
Mol Neurobiol
; 60(9): 5034-5054, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243816
13.
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Neurol Genet
; 9(4): e200079, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293291
14.
Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Neurol Genet
; 9(5): e200095, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37521204
15.
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.
J Neurol Neurosurg Psychiatry
; 88(11): 996-997, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28365590
16.
Clinical trials in pediatric ALS: a TRICALS feasibility study.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(7-8): 481-488, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172656
17.
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
Brain
; 138(Pt 12): e400, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26152333
18.
Altered expression of myogenic regulatory factors in the mouse model of amyotrophic lateral sclerosis.
Neurodegener Dis
; 8(5): 386-96, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21346327
19.
CdSe Quantum Dots in Human Models Derived from ALS Patients: Characterization, Nuclear Penetration Studies and Multiplexing.
Nanomaterials (Basel)
; 11(3)2021 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33803158
20.
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
Amyotroph Lateral Scler Frontotemporal Degener
; 22(7-8): 552-560, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34009082