Search details
1.
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
2.
Quantitative Measurement of Cooperativity in H-Bonded Networks.
J Am Chem Soc
; 144(42): 19499-19507, 2022 10 26.
Article
in English
| MEDLINE | ID: mdl-36223562
3.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Muscle Nerve
; 65(1): 96-104, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34687219
4.
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report.
Neurocase
; 27(6): 452-456, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34751098
5.
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Ann Hum Genet
; 84(5): 417-422, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32281099
6.
Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
J Peripher Nerv Syst
; 25(2): 102-106, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32277537
7.
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients.
Neurodegener Dis
; 18(5-6): 310-314, 2018.
Article
in English
| MEDLINE | ID: mdl-30893702
8.
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Pediatr Neurol
; 154: 4-8, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38428336
9.
Streamlining the diagnostic pathway for Lynch syndrome in colorectal cancer patients: a 10-year experience in a single Italian Cancer Center.
Eur J Cancer Prev
; 33(4): 355-362, 2024 Jul 01.
Article
in English
| MEDLINE | ID: mdl-38190337
10.
Neural oscillations modulation during working memory in pre-manifest and early Huntington's disease.
Brain Res
; 1820: 148540, 2023 Dec 01.
Article
in English
| MEDLINE | ID: mdl-37598900
11.
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Fam Cancer
; 2023 Nov 16.
Article
in English
| MEDLINE | ID: mdl-37968543
12.
Synchronous and metachronous primary colorectal cancers with concordant and discordant mismatch repair status.
Hum Pathol
; 141: 54-63, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37742947
13.
Germline TP53 pathogenic variants and breast cancer: A narrative review.
Cancer Treat Rev
; 114: 102522, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36739824
14.
The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis.
J Clin Med
; 12(23)2023 Nov 22.
Article
in English
| MEDLINE | ID: mdl-38068290
15.
Case report: Episodic ataxia without ataxia?
Front Neurol
; 14: 1224241, 2023.
Article
in English
| MEDLINE | ID: mdl-37965175
16.
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.
Clin Case Rep
; 10(10): e6308, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-36237940
17.
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Life (Basel)
; 12(3)2022 Mar 10.
Article
in English
| MEDLINE | ID: mdl-35330153
18.
Redox switching of an artificial transmembrane signal transduction system.
Chem Commun (Camb)
; 57(17): 2196-2198, 2021 Mar 01.
Article
in English
| MEDLINE | ID: mdl-33616133
19.
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
Mol Genet Genomic Med
; 9(9): e1753, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34318601
20.
Toward supramolecular nanozymes for the photocatalytic activation of Pt(IV) anticancer prodrugs.
Chem Commun (Camb)
; 56(72): 10461-10464, 2020 Sep 10.
Article
in English
| MEDLINE | ID: mdl-32910125