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.
Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 2024 Jun 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38873946
3.
Hospital admissions from the emergency department of adult patients affected by myopathies.
Eur J Neurol
; 31(5): e16214, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38226549
4.
Technology outcome measures in neuromuscular disorders: A systematic review.
Eur J Neurol
; 29(4): 1266-1278, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34962693
5.
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials.
Eur J Neurol
; 29(3): 843-854, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34753219
6.
Deep learning for automatic segmentation of thigh and leg muscles.
MAGMA
; 35(3): 467-483, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34665370
7.
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Hum Mol Genet
; 28(23): 3912-3920, 2019 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31600781
8.
Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy.
Int J Mol Sci
; 22(1)2020 Dec 30.
Artigo
Inglês
| MEDLINE | ID: mdl-33396627
9.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 90(5): 576-585, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30530568
10.
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
; 89(1): 72-77, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28889091
11.
Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials.
Ann Neurol
; 79(5): 854-864, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26994363
12.
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Muscle Nerve
; 55(1): 55-68, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27184587
13.
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.
J Med Genet
; 53(5): 348-55, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26831754
14.
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Am J Hum Genet
; 90(4): 628-35, 2012 Apr 06.
Artigo
Inglês
| MEDLINE | ID: mdl-22482803
15.
Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis.
Muscle Nerve
; 52(6): 956-62, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25808807
16.
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
J Med Genet
; 51(12): 824-33, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25326555
17.
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.
Neuropathol Appl Neurobiol
; 40(4): 464-76, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23888875
18.
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.
J Cardiovasc Magn Reson
; 16: 45, 2014 Jul 09.
Artigo
Inglês
| MEDLINE | ID: mdl-25008475
19.
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Brain
; 136(Pt 11): 3408-17, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24030947
20.
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.
Neuromuscul Disord
; 37: 1-5, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38430701