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.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Guidelines on clinical presentation and management of nondystrophic myotonias.
Muscle Nerve
; 62(4): 430-444, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32270509
12.
Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach.
Neurol Sci
; 41(4): 859-868, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31811531
13.
Consensus-Based Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1.
Respiration
; 99(4): 360-368, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32299079
14.
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Hum Genet
; 138(3): 241-256, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788592
15.
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
BMC Neurol
; 19(1): 224, 2019 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506080
16.
Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care.
Neurol Sci
; 40(2): 327-332, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30430317
17.
Review of the Diagnosis and Treatment of Periodic Paralysis.
Muscle Nerve
; 57(4): 522-530, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29125635
18.
Respiratory involvement in neuromuscular disorders.
Curr Opin Neurol
; 30(5): 529-537, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28562381
20.
Gonadal failure is associated with visceral adiposity in myotonic dystrophies.
Eur J Clin Invest
; 45(7): 702-10, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25950257