Detalhe da pesquisa
1.
Addressing noise in co-expression network construction.
Brief Bioinform;
23(1)2022 01 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34850822
2.
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
Ann Neurol;
93(5): 906-910, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36891823
3.
Development of a functional outcome measure for riboflavin transporter deficiency.
J Peripher Nerv Syst;
2024 Mar 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38445790
4.
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Brain;
146(9): 3826-3835, 2023 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36947133
5.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain;
146(10): 4336-4349, 2023 10 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37284795
6.
Variability between Different Hand-Held Dynamometers for Measuring Muscle Strength.
Sensors (Basel);
24(6)2024 Mar 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38544123
7.
Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency.
J Peripher Nerv Syst;
28(3): 308-316, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37537696
8.
Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.
J Peripher Nerv Syst;
28(2): 237-251, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36748295
9.
Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.
J Peripher Nerv Syst;
28(3): 382-389, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37166413
10.
Clinical applications of machine learning in predicting 3D shapes of the human body: a systematic review.
BMC Bioinformatics;
23(1): 431, 2022 Oct 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36253726
11.
Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.
Ann Neurol;
89(2): 369-379, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33222249
12.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry;
93(5): 530-538, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35140138
13.
Normative Reference Values for Knee Extensor Muscle Rate of Torque Development and Torque Steadiness in Adolescents and Adults.
J Clin Rheumatol;
28(3): 155-161, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35293889
14.
Neuromuscular rehabilitation - what to do?
Curr Opin Neurol;
34(5): 697-705, 2021 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34343140
15.
L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.
Am J Med Genet A;
185(10): 2976-2985, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34155781
16.
Correlates of night-time and exercise-associated lower limb cramps in healthy adults.
Muscle Nerve;
64(3): 301-308, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34185321
17.
12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.
Muscle Nerve;
63(3): 384-391, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33341951
18.
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
19.
Non-drug therapies for the secondary prevention of lower limb muscle cramps.
Cochrane Database Syst Rev;
5: CD008496, 2021 05 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33998664
20.
Interventions for promoting physical activity in people with neuromuscular disease.
Cochrane Database Syst Rev;
5: CD013544, 2021 May 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34027632