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1.
Genetic defects of gamma-secretase genes in a multiple myeloma patient with high and dysregulated BCMA surface density: A case report.
Br J Haematol
; 204(2): 571-575, 2024 02.
Article
in English
| MEDLINE | ID: mdl-37957838
2.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37750340
3.
Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes.
Cell Mol Life Sci
; 78(6): 2781-2795, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-33034697
4.
Combined Treatment with PI3K Inhibitors BYL-719 and CAL-101 Is a Promising Antiproliferative Strategy in Human Rhabdomyosarcoma Cells.
Molecules
; 27(9)2022 Apr 24.
Article
in English
| MEDLINE | ID: mdl-35566091
5.
Comparison between plasma and cerebrospinal fluid biomarkers for the early diagnosis and association with survival in prion disease.
J Neurol Neurosurg Psychiatry
; 91(11): 1181-1188, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32928934
6.
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
Brain
; 142(7): 1905-1920, 2019 07 01.
Article
in English
| MEDLINE | ID: mdl-31143934
7.
Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the CYP4X1 gene.
J Neurol Neurosurg Psychiatry
; 89(12): 1243-1249, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30032116
8.
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Hum Mol Genet
; 24(10): 2746-56, 2015 May 15.
Article
in English
| MEDLINE | ID: mdl-25637521
9.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Hum Mol Genet
; 23(13): 3607-17, 2014 Jul 01.
Article
in English
| MEDLINE | ID: mdl-24556213
10.
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Hum Mol Genet
; 26(19): 3868, 2017 10 01.
Article
in English
| MEDLINE | ID: mdl-28934398
11.
Phospholipase Family Enzymes in Lung Cancer: Looking for Novel Therapeutic Approaches.
Cancers (Basel)
; 15(12)2023 Jun 19.
Article
in English
| MEDLINE | ID: mdl-37370855
12.
The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization.
Hum Mol Genet
; 19(6): 1019-32, 2010 Mar 15.
Article
in English
| MEDLINE | ID: mdl-20028790
13.
Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation.
Mov Disord
; 32(8): 1259-1260, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28543767
14.
Genomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease.
Acta Neuropathol Commun
; 10(1): 181, 2022 12 14.
Article
in English
| MEDLINE | ID: mdl-36517866
15.
Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.
Genes (Basel)
; 13(8)2022 07 22.
Article
in English
| MEDLINE | ID: mdl-35893043
16.
Extra Virgin Olive Oil (EVOO), a Mediterranean Diet Component, in the Management of Muscle Mass and Function Preservation.
Nutrients
; 14(17)2022 Aug 30.
Article
in English
| MEDLINE | ID: mdl-36079827
17.
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Front Aging Neurosci
; 14: 969817, 2022.
Article
in English
| MEDLINE | ID: mdl-36133075
18.
Three-Dimensional Virtual Anatomy as a New Approach for Medical Student's Learning.
Int J Environ Res Public Health
; 18(24)2021 12 16.
Article
in English
| MEDLINE | ID: mdl-34948857
19.
Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Neurobiol Aging
; 97: 145.e7-145.e15, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32507413
20.
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.
J Neurol
; 268(10): 3766-3776, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-33770234