Detalhe da pesquisa
1.
Quantitative measures of motor development in Angelman syndrome.
Am J Med Genet A
; 191(7): 1711-1721, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37019838
2.
Home-based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 65(2): 237-242, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34687225
3.
Stride Velocity 95th Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Assessment in Duchenne Muscular Dystrophy.
J Neuromuscul Dis
; 11(3): 701-714, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38640165
4.
Effect of sirolimus on muscle in inclusion body myositis observed with magnetic resonance imaging and spectroscopy.
J Cachexia Sarcopenia Muscle
; 15(3): 1108-1120, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38613252
5.
Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.
J Neuromuscul Dis
; 8(1): 79-90, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33164942
6.
Normative data on spontaneous stride velocity, stride length, and walking activity in a non-controlled environment.
Orphanet J Rare Dis
; 16(1): 318, 2021 07 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34281599
7.
Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy.
Orphanet J Rare Dis
; 16(1): 3, 2021 01 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33407688
8.
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.
Ann Clin Transl Neurol
; 8(10): 1938-1950, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34453498
9.
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.
Ann Clin Transl Neurol
; 8(2): 359-373, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33369268
10.
Sirolimus for treatment of patients with inclusion body myositis: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2b trial.
Lancet Rheumatol
; 3(1): e40-e48, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38273639
11.
Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy.
J Neurol
; 267(1): 228-238, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31616990
12.
X-linked myotubular myopathy: A prospective international natural history study.
Neurology
; 92(16): e1852-e1867, 2019 04 16.
Artigo
Inglês
| MEDLINE | ID: mdl-30902907
13.
First regulatory qualification of a digital primary endpoint to measure treatment efficacy in DMD.
Nat Med
; 29(10): 2391-2392, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37814063
14.
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Neurology
; 91(14): e1312-e1318, 2018 10 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30158155
15.
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
PLoS One
; 13(7): e0201004, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30048507
16.
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment.
PLoS One
; 11(6): e0156696, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27271157
17.
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy.
Neurology
; 86(11): 1022-30, 2016 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26888987
18.
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.
J Neuromuscul Dis
; 2(3): 269-279, 2015 Sep 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27858743
19.
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.
PLoS One
; 10(2): e0113999, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25643053
20.
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial.
PLoS One
; 10(4): e0121799, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25861036