Detalhe da pesquisa
1.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet
; 29(2): 320-334, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915823
2.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
3.
SPG8 mutations in Italian families: clinical data and literature review.
Neurol Sci
; 41(3): 699-703, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31814071
4.
Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor.
Ann Clin Transl Neurol
; 10(10): 1790-1801, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37545094
5.
Corrigendum: Adenosine receptor stimulation improves glucocorticoid-induced osteoporosis in a rat model.
Front Pharmacol
; 13: 1073618, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36408231
6.
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.
Neurol Genet
; 7(1): e544, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33553621
7.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50).
Stem Cell Res
; 53: 102335, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087981
8.
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.
Neurology
; 97(19): e1942-e1954, 2021 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544818
9.
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain Commun
; 3(4): fcab221, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34729478
10.
Expansion of the genetic landscape of ERLIN2-related disorders.
Ann Clin Transl Neurol
; 7(4): 573-578, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32147972
11.
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
Ann Clin Transl Neurol
; 7(4): 584-589, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32216065
12.
Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia.
Front Neurosci
; 13: 1311, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31920481
13.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).
Stem Cell Res
; 40: 101575, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31525725
14.
Editorial: In vitro and in vivo models for neurodevelopmental disorders.
Front Neurosci
; 17: 1239577, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37502680
15.
Effects of the antagomiRs 15b and 200b on the altered healing pattern of diabetic mice.
Br J Pharmacol
; 175(4): 644-655, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178246
16.
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
Front Neurol
; 9: 981, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30564185
17.
Adenosine Receptor Stimulation Improves Glucocorticoid-Induced Osteoporosis in a Rat Model.
Front Pharmacol
; 8: 558, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28928654