Detalhe da pesquisa
1.
Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key.
Cell;
172(5): 889-891, 2018 02 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29474915
2.
Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease.
Neurobiol Dis;
192: 106413, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38253208
3.
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
Cell Tissue Res;
396(2): 255-267, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38502237
4.
Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort.
J Neurol Neurosurg Psychiatry;
95(4): 309-315, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37879897
5.
Impaired Mitochondrial Respiration in REM-Sleep Behavior Disorder: A Biomarker of Parkinson's Disease?
Mov Disord;
39(2): 294-304, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38006292
6.
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
Mov Disord;
39(4): 715-722, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38357851
7.
Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase.
Mov Disord;
2024 Mar 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38436488
8.
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.
Cerebellum;
2024 Feb 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38334877
9.
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
Am J Med Genet A;
194(1): 82-87, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37750385
10.
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.
Am J Med Genet A;
194(6): e63555, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38326731
11.
Visual function in children with Joubert syndrome.
Dev Med Child Neurol;
66(3): 379-388, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37593819
12.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet;
60(9): 885-893, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36788019
13.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol;
45(4): 2847-2860, 2023 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37185710
14.
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Clin Genet;
104(2): 230-237, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37038048
15.
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Ann Neurol;
92(1): 138-153, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35340043
16.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord;
38(12): 2241-2248, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37750340
17.
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.
Mov Disord;
38(4): 604-615, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36788297
18.
Mosaic Williams syndrome: A case report.
Am J Med Genet A;
191(1): 249-252, 2023 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36263864
19.
Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.
Am J Med Genet A;
191(2): 575-581, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36367252
20.
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.
Am J Med Genet A;
191(5): 1395-1400, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36756855