Detalhe da pesquisa
1.
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Clin Genet
; 105(3): 335-339, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38041579
2.
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
Inglês
| MEDLINE | ID: mdl-37185710
3.
Inflammatory profile in mitochondrial diseases: A cohort study.
Eur J Neurol
; 30(10): 3409-3410, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37402160
4.
Idiopathic inflammatory myopathies evaluated by near-infrared spectroscopy.
Muscle Nerve
; 51(6): 830-7, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25287218
5.
TWEAK in inclusion-body myositis muscle: possible pathogenic role of a cytokine inhibiting myogenesis.
Am J Pathol
; 180(4): 1603-13, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22314077
6.
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Orphanet J Rare Dis
; 18(1): 196, 2023 07 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37480080
7.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 269(1): 437-450, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34487232
8.
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
Acta Myol
; 41(4): 135-177, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36793651
9.
Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.
Neurol Sci
; 32(5): 841-7, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21695654
10.
Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.
Neuromuscul Disord
; 31(6): 532-538, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33832840
11.
Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study.
Life (Basel)
; 12(1)2021 Dec 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35054398
12.
Management of motor rehabilitation in individuals with muscular dystrophies. 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019).
Acta Myol
; 40(2): 72-87, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34355124
13.
Genetic Counseling and NGS Screening for Recessive LGMD2A Families.
High Throughput
; 9(2)2020 May 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32397577
14.
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients.
Front Neurol
; 11: 564, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32574249
15.
Regulatory T cells fail to suppress CD4T+-bet+ T cells in relapsing multiple sclerosis patients.
Immunology
; 127(3): 418-28, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19016907
16.
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.
Front Neurol
; 10: 619, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31263448
17.
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.
J Neurol Sci
; 399: 118-124, 2019 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30798109
18.
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
Adv Ther
; 36(5): 1177-1189, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30879255
19.
Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies.
Stem Cells
; 25(12): 3173-82, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17761758
20.
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 270(4): 2345-2346, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36795150