Detalhe da pesquisa
1.
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
BMC Musculoskelet Disord
; 25(1): 35, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183077
2.
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Int J Mol Sci
; 24(6)2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982625
3.
User-centred assistive SystEm for arm Functions in neUromuscuLar subjects (USEFUL): a randomized controlled study.
J Neuroeng Rehabil
; 18(1): 4, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407580
4.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
5.
A Wearable Device for Breathing Frequency Monitoring: A Pilot Study on Patients with Muscular Dystrophy.
Sensors (Basel)
; 20(18)2020 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32961986
6.
Multi-center evaluation of stability and reproducibility of quantitative MRI measures in healthy calf muscles.
NMR Biomed
; 32(9): e4119, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313867
7.
Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.
Neurol Sci
; 45(2): 819-823, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37792112
8.
A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.
Neurol Sci
; 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38483676
9.
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
J Med Genet
; 55(4): 269-277, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378768
10.
Tensor-based morphometry using scalar and directional information of diffusion tensor MRI data (DTBM): Application to hereditary spastic paraplegia.
Hum Brain Mapp
; 39(12): 4643-4651, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30253021
11.
Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood.
Eur Respir J
; 51(2)2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437939
12.
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Muscle Nerve
; 55(1): 55-68, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27184587
13.
Sleep Disordered Breathing in Duchenne Muscular Dystrophy.
Curr Neurol Neurosci Rep
; 17(5): 44, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28397169
14.
Safety and efficacy of interferon γ in friedreich's ataxia.
Mov Disord
; 35(2): 370-371, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31930551
15.
Burden, professional support, and social network in families of children and young adults with muscular dystrophies.
Muscle Nerve
; 52(1): 13-21, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363165
16.
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
BMC Neurol
; 15: 172, 2015 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26404900
17.
Glossopharyngeal breathing can allow a lung expansion greater than inspiratory capacity in muscular dystrophy.
Eur Respir J
; 54(2)2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31073089
18.
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study.
Acta Myol
; 33(3): 136-43, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873782
19.
Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia.
PLoS One
; 19(4): e0301452, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38557877
20.
Brain Alteration Patterns in Children with Duchenne Muscular Dystrophy: A Machine Learning Approach to Magnetic Resonance Imaging.
J Neuromuscul Dis
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578898