Detalhe da pesquisa
1.
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Eur J Neurol
; : e16309, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38656662
2.
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Eur J Neurol
; 30(6): 1755-1763, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36880698
3.
Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
Eur J Pediatr
; 181(5): 1923-1932, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35048179
4.
Spinal muscular atrophy: state of the art and new therapeutic strategies.
Neurol Sci
; 43(Suppl 2): 615-624, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33871750
5.
Bone health in Duchenne muscular dystrophy: clinical and biochemical correlates.
J Endocrinol Invest
; 45(3): 517-525, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34524678
6.
Clinical Variability in Spinal Muscular Atrophy Type III.
Ann Neurol
; 88(6): 1109-1117, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926458
7.
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
Muscle Nerve
; 64(5): 552-559, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327716
8.
Which are the factors influencing NIV adaptation and tolerance in ALS patients?
Neurol Sci
; 42(3): 1023-1029, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710206
9.
Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients.
Int J Mol Sci
; 22(9)2021 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33919289
10.
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen.
J Pediatr
; 219: 223-228.e4, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32035635
11.
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
Ann Neurol
; 86(3): 443-451, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31228281
12.
Effect of exercise on telomere length and telomere proteins expression in mdx mice.
Mol Cell Biochem
; 470(1-2): 189-197, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32447718
13.
Psychosocial impact of sport activity in neuromuscular disorders.
Neurol Sci
; 41(9): 2561-2567, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246354
14.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 89(7): 762-768, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437916
15.
Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center.
Neurol Sci
; 39(11): 1961-1964, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30043247
16.
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
J Neurol Neurosurg Psychiatry
; 93(8): 908-910, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35086940
17.
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
BMC Neurol
; 17(1): 39, 2017 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28231823
18.
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain
; 139(Pt 3): 674-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700687
19.
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
20.
Old measures and new scores in spinal muscular atrophy patients.
Muscle Nerve
; 52(3): 435-7, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26111847