Detalhe da pesquisa
1.
Major Adverse Dystrophinopathy Events (MADE) Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy.
Prog Pediatr Cardiol
; 692023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37990740
2.
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
J Neurol Neurosurg Psychiatry
; 89(10): 1071-1081, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735511
3.
Advances in the Therapy of Spinal Muscular Atrophy.
J Pediatr
; 236: 13-20.e1, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34197889
4.
50 Years Ago in The Journal of Pediatrics: Chronic Polyneuritis of Childhood.
J Pediatr
; 208: 175, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31027619
5.
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
J Neurol Neurosurg Psychiatry
; 89(11): 1224-1226, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378789
6.
Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy.
J Clin Med
; 12(20)2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37892834
7.
Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA).
J Clin Med
; 12(24)2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137651
8.
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids.
J Neuromuscul Dis
; 9(1): 147-159, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719507
9.
Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy.
Muscle Nerve
; 44(2): 170-3, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21674534
10.
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
Neurotherapeutics
; 18(2): 1127-1136, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624184
11.
Medical management of muscle weakness in Duchenne muscular dystrophy.
PLoS One
; 15(10): e0240687, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33075081
12.
Assessment of disease progression in dysferlinopathy: A 1-year cohort study.
Neurology
; 2019 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626655
13.
PPARalpha L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males.
BMC Med Genet
; 8: 55, 2007 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-17705849
14.
Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
Neurotherapeutics
; 18(3): 2130, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34731415
15.
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
J Neuromuscul Dis
; 3(2): 209-225, 2016 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854218
16.
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.
Pediatr Neurol
; 52(2): 239-44, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25484024
17.
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
Neuromuscul Disord
; 24(4): 331-4, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24447884
18.
'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.
Neuromuscul Disord
; 23(12): 955-61, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24070816
19.
CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy.
Ann Neurol
; 58(1): 151-5, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15984021