Detalhe da pesquisa
1.
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
Eur J Neurol
; 30(12): 3828-3833, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37578187
2.
Multisystem inflammatory syndrome in children and SARS-CoV-2 variants: a two-year ambispective multicentric cohort study in Catalonia, Spain.
Eur J Pediatr
; 182(4): 1897-1909, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36801975
3.
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.
J Med Genet
; 59(12): 1227-1233, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041817
4.
Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model.
Neuropathol Appl Neurobiol
; 48(1): e12747, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237158
5.
Activating cannabinoid receptor 2 preserves axonal health through GSK-3ß/NRF2 axis in adrenoleukodystrophy.
Acta Neuropathol
; 144(2): 241-258, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35778568
6.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain
; 144(9): 2659-2669, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415322
7.
Household Severe Acute Respiratory Syndrome Coronavirus 2 Transmission and Children: A Network Prospective Study.
Clin Infect Dis
; 73(6): e1261-e1269, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709135
8.
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
J Med Genet
; 57(2): 132-137, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586945
9.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Am J Hum Genet
; 101(6): 965-976, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220678
10.
A novel mutation in the GFAP gene expands the phenotype of Alexander disease.
J Med Genet
; 56(12): 846-849, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004048
11.
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Mov Disord
; 34(10): 1547-1561, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433872
12.
In vivo administration of LPS and ß-glucan generates the expression of a serum lectin and its cellular receptor in Cherax quadricarinatus.
Fish Shellfish Immunol
; 94: 10-16, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31465869
13.
Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy.
Hum Mol Genet
; 24(24): 6861-76, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26370417
14.
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy.
Acta Neuropathol
; 133(2): 283-301, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28004277
15.
Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury.
Glia
; 64(5): 853-74, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26880229
16.
Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.
Acta Neuropathol
; 129(3): 399-415, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25549970
17.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Acta Neuropathol
; 140(6): 971-975, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33015733
18.
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
Mov Disord
; 34(12): 1932-1933, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845766
19.
Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.
Brain
; 136(Pt 3): 891-904, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23436506
20.
Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.
Brain
; 136(Pt 8): 2432-43, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794606