Detalhe da pesquisa
1.
A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis.
Pharmacogenet Genomics
; 27(2): 51-56, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27922550
2.
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.
J Hum Genet
; 58(9): 581-7, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23739125
3.
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Front Neurol
; 11: 646, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32849172
4.
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.
J Alzheimers Dis
; 63(1): 195-201, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29578490
5.
Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration.
Neurobiol Aging
; 54: 214.e1-214.e6, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285794
6.
VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis.
Ann Clin Transl Neurol
; 1(5): 329-39, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356403
7.
LMNA-associated myopathies: the Italian experience in a large cohort of patients.
Neurology
; 83(18): 1634-44, 2014 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25274841
8.
A new thiopurine s-methyltransferase haplotype associated with intolerance to azathioprine.
J Clin Pharmacol
; 53(1): 67-74, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23400745
9.
Inflammation and epstein-barr virus infection are common features of myasthenia gravis thymus: possible roles in pathogenesis.
Autoimmune Dis
; 2011: 213092, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21961056
10.
Central core disease and susceptibility to malignant hyperthermia in a single family.
J Neurol
; 256(7): 1161-3, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19252784