Detalhe da pesquisa
1.
Systemic Reduction of Glut1 Normalizes Retinal Dysfunction, Inflammation, and Oxidative Stress in the Retina of Spontaneous Type 2 Diabetic Mice.
Am J Pathol
; 193(7): 927-938, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062410
2.
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
Mov Disord
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725190
3.
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
4.
Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients.
Ann Neurol
; 91(3): 305-316, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981567
5.
Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy.
Muscle Nerve
; 68(1): 81-84, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484158
6.
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
7.
Reduction of Glut1 in the Neural Retina But Not the RPE Alleviates Polyol Accumulation and Normalizes Early Characteristics of Diabetic Retinopathy.
J Neurosci
; 41(14): 3275-3299, 2021 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33622781
8.
Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States.
Muscle Nerve
; 66(1): 84-90, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385150
9.
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
N Engl J Med
; 378(7): 625-635, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29443664
10.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med
; 23(2): 374-383, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077894
11.
Clinical Variability in Spinal Muscular Atrophy Type III.
Ann Neurol
; 88(6): 1109-1117, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926458
12.
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
13.
Spinal Muscular Atrophy: A Potential Target for In Utero Therapy.
Clin Obstet Gynecol
; 64(4): 917-925, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34560767
14.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
N Engl J Med
; 377(18): 1723-1732, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29091570
15.
Limitations of 6-minute walk test reference values for spinal muscular atrophy.
Muscle Nerve
; 61(3): 375-382, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884700
16.
Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.
Muscle Nerve
; 60(4): 409-414, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31298747
17.
Revised upper limb module for spinal muscular atrophy: 12 month changes.
Muscle Nerve
; 59(4): 426-430, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30677148
18.
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.
Genet Med
; 20(6): 608-613, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758563
19.
Reply to: The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy.
Ann Neurol
; 91(6): 892, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332578
20.
Disruption of Glut1 in Hematopoietic Stem Cells Prevents Myelopoiesis and Enhanced Glucose Flux in Atheromatous Plaques of ApoE(-/-) Mice.
Circ Res
; 118(7): 1062-77, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26926469