Detalhe da pesquisa
1.
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Diabetologia
; 66(4): 695-708, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692510
2.
Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches.
Crit Rev Clin Lab Sci
; 60(3): 171-188, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36510705
3.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Eur J Neurol
; 30(2): 511-526, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260368
4.
Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells.
Int J Mol Sci
; 24(11)2023 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298497
5.
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Int J Mol Sci
; 24(20)2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894777
6.
Integrated evaluation of a panel of neurochemical biomarkers to optimize diagnosis and prognosis in amyotrophic lateral sclerosis.
Eur J Neurol
; 29(7): 1930-1939, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35263489
7.
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Int J Mol Sci
; 21(9)2020 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32397312
8.
ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.
Hum Reprod
; 34(6): 1155-1164, 2019 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119281
9.
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
J Neurol Neurosurg Psychiatry
; 90(10): 1171-1179, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31167812
10.
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.
J Allergy Clin Immunol
; 142(3): 928-941.e8, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29241731
11.
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome.
Int J Mol Sci
; 20(24)2019 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31835735
12.
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
J Neurol Neurosurg Psychiatry
; 88(10): 869-875, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28822984
13.
Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?
Cephalalgia
; 37(12): 1202-1206, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27651281
14.
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.
Stroke
; 47(7): 1702-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27245348
15.
Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study.
J Neurol Neurosurg Psychiatry
; 91(9): 1001-1003, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651246
16.
Possible role of fructosamine 3-kinase genotyping for the management of diabetic patients.
Clin Chem Lab Med
; 53(9): 1315-20, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352355
17.
The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.
J Biol Chem
; 288(47): 33873-33883, 2013 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108129
18.
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.
J Neurol
; 271(3): 1342-1354, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930481
19.
Germline testing and genetic counseling in biliary tract cancer: an operative proposal to improve the state of art.
Expert Rev Gastroenterol Hepatol
; 18(4-5): 141-146, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38584510
20.
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
Front Neurol
; 15: 1284459, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356886