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.
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
3.
Facial nerve vulnerability in spinal muscular atrophy and motor unit number index of the orbicularis oculi muscle.
Muscle Nerve
; 67(5): 401-406, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861214
4.
The Facioscapulohumeral Muscular Dystrophy-Health Index: Development and evaluation of a disease-specific outcome measure.
Muscle Nerve
; 68(4): 422-431, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37610084
5.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle Nerve
; 68(2): 157-170, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409780
6.
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
7.
Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1.
Neurol Sci
; 44(6): 2149-2157, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36694070
8.
Patient-reported outcome measures in drugs for neurological conditions approved by European Medicines Agency 2017-2022.
Neurol Sci
; 44(8): 2933-2937, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37145229
9.
Clinimetrics of the cognitive section of the Italian ALS Cognitive Behavioral Screen (ALS-CBS™).
Neurol Sci
; 44(4): 1243-1249, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36547779
10.
Peri-partum respiratory management of pregnant women with neuro-muscular disorders: a prospective observational study (IT-NEUMA-Pregn study).
BMC Anesthesiol
; 23(1): 342, 2023 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833635
11.
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.
Dysphagia
; 38(6): 1568-1580, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37289231
12.
The hypometabolic state: a good predictor of a better prognosis in amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 93(1): 41-47, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34353859
13.
Body composition and myokines in a cohort of patients with Becker muscular dystrophy.
Muscle Nerve
; 66(1): 63-70, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474226
14.
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
15.
Cross-Cultural Adaptation and Validation of the Italian Version of the Dysphagia Handicap Index (I-DHI).
Dysphagia
; 37(5): 1120-1136, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581857
16.
Clinical Variability in Spinal Muscular Atrophy Type III.
Ann Neurol
; 88(6): 1109-1117, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926458
17.
Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.
Am J Med Genet A
; 185(3): 781-789, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369085
18.
Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis.
Muscle Nerve
; 64(3): 342-346, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34129236
19.
The Spinal Muscular Atrophy Health Index: A novel outcome for measuring how a patient feels and functions.
Muscle Nerve
; 63(6): 837-844, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33711174
20.
12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.
Muscle Nerve
; 63(3): 384-391, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33341951