Detalhe da pesquisa
1.
Risdiplam in Type 1 Spinal Muscular Atrophy.
N Engl J Med
; 384(10): 915-923, 2021 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33626251
2.
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
Brain
; 146(10): 4217-4232, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37143315
3.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat
; 43(4): 511-528, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165973
4.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol
; 89(5): 967-978, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576057
5.
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Muscle Nerve
; 65(5): 560-567, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179228
6.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve
; 65(5): 531-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179231
7.
Advances and limitations for the treatment of spinal muscular atrophy.
BMC Pediatr
; 22(1): 632, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329412
8.
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
9.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
; 143(12): 3589-3602, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415332
10.
Telomere shortening is a hallmark of genetic cardiomyopathies.
Proc Natl Acad Sci U S A
; 115(37): 9276-9281, 2018 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30150400
11.
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Ann Neurol
; 85(3): 316-330, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706531
12.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Genet Med
; 21(11): 2543-2551, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31086307
13.
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
14.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Genet Med
; 20(10): 1284-1294, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565424
15.
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
16.
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.
Pediatr Phys Ther
; 30(3): 209-215, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29924070
17.
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.
Lancet
; 388(10063): 3017-3026, 2016 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939059
18.
Revised upper limb module for spinal muscular atrophy: Development of a new module.
Muscle Nerve
; 55(6): 869-874, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27701745
19.
Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.
Mol Ther
; 24(4): 685-96, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26916285
20.
Advances in the Therapy of Spinal Muscular Atrophy.
J Pediatr
; 236: 13-20.e1, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34197889