Detalhe da pesquisa
1.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
N Engl J Med
; 390(12): 1092-1104, 2024 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38507752
2.
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
3.
Comparison of strength testing modalities in dysferlinopathy.
Muscle Nerve
; 66(2): 159-166, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506767
4.
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
5.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Brain
; 144(10): 3239-3250, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114613
6.
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Ann Neurol
; 83(1): 153-165, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283439
7.
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
8.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
9.
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
10.
Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease.
J Pediatr Ophthalmol Strabismus
; 60(4): e35-e37, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37478202
11.
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.
Neuromuscul Disord
; 33(4): 349-357, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36972667
12.
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Neuromuscul Disord
; 33(2): 199-207, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36689846
13.
Water T2 could predict functional decline in patients with dysferlinopathy.
J Cachexia Sarcopenia Muscle
; 13(6): 2888-2897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36058852
14.
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.
Front Neurol
; 13: 828525, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35359643
15.
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Neuromuscul Disord
; 31(4): 265-280, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33610434
16.
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy.
Front Neurol
; 11: 613446, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33391171
17.
Assessment of disease progression in dysferlinopathy: A 1-year cohort study.
Neurology
; 2019 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626655
18.
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
J Child Neurol
; 31(9): 1114-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27034427
19.
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Neurol Genet
; 2(4): e89, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27602406
20.
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
Neurology
; 84(14): 1495-7, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25770200