Detalhe da pesquisa
1.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
2.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain
; 144(5): 1435-1450, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880529
3.
A novel IRF2BPL truncating variant is associated with endolysosomal storage.
Mol Biol Rep
; 47(1): 711-714, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31583567
4.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561534
5.
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
Neurogenetics
; 19(2): 123-130, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423566
6.
Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma Cells.
Cell Mol Neurobiol
; 37(4): 665-682, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27422411
7.
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.
Dev Med Child Neurol
; 59(8): 815-821, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28542837
8.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet
; 134(1): 123-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407461
9.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Nat Genet
; 38(7): 752-4, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16783378
10.
Human pathology in NCL.
Biochim Biophys Acta
; 1832(11): 1807-26, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23200925
11.
NCL diseases - clinical perspectives.
Biochim Biophys Acta
; 1832(11): 1801-6, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23602993
12.
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.
Neurogenetics
; 15(1): 41-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24202401
13.
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.
Clin Dysmorphol
; 33(1): 1-8, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37791705
14.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Nat Genet
; 32(3): 384-92, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12368912
15.
Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain.
Biochim Biophys Acta Mol Basis Dis
; 1869(6): 166756, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37209872
16.
Risk of psychosis in autism spectrum disorder individuals exposed to psychosocial stressors: A 9-year chart review study.
Autism Res
; 16(11): 2139-2149, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929657
17.
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Biochim Biophys Acta
; 1812(7): 782-90, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21497194
18.
Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.
Front Neurol
; 13: 811686, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35359645
19.
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.
Genes (Basel)
; 13(10)2022 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292677
20.
Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.
Biomolecules
; 12(8)2022 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35892334