Detalhe da pesquisa
1.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695206
2.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498898
3.
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.
J Cell Sci
; 129(8): 1671-84, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945058
4.
Influence of treatments in multiple sclerosis disability: a cohort study.
Mult Scler
; 21(4): 433-41, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25257611
5.
Budget impact analysis: comparing the costs of nusinersen and risdiplam in the treatment of type 3 spinal muscular atrophy patients.
Eur J Hosp Pharm
; 2023 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37898509
6.
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.
Neuromuscul Disord
; 33(12): 911-916, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37945485
7.
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Neurology
; 100(11): 522-528, 2023 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460469
8.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Genes (Basel)
; 14(2)2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833224
9.
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
Muscle Nerve
; 44(5): 703-9, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21953594
10.
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.
J Appl Physiol (1985)
; 131(6): 1762-1771, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34734785
11.
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
Muscle Nerve
; 41(4): 458-63, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19882644
12.
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Sci Rep
; 10(1): 21648, 2020 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33303865
13.
Scleroderma-Polymyositis Overlap Syndrome as a Potential Bulbar Amyotrophic Lateral Sclerosis Mimic.
J Clin Neuromuscul Dis
; 25(4): 199-200, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38771230
14.
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
em Inglês
| MEDLINE | ID: mdl-30879255
15.
Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation.
Neuromuscul Disord
; 18(4): 291-8, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18337098
16.
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.
Neuromuscul Disord
; 26(1): 16-20, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26652229
17.
Absence of histological myopathy in chronic myeloid leukemia patients complaining of muscle spasms and myalgia during treatment with nilotinib.
Leuk Res
; 36(9): e206-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22742815
18.
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
Muscle Nerve
; 36(6): 828-32, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17701980