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1.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
N Engl J Med;
390(12): 1092-1104, 2024 03 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38507752
2.
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Acta Neuropathol;
139(6): 1089-1104, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32236737
3.
Vitamin D3 supplementation using an oral spray solution resolves deficiency but has no effect on VO2 max in Gaelic footballers: results from a randomised, double-blind, placebo-controlled trial.
Eur J Nutr;
56(4): 1577-1587, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-27015912
4.
Vitamin D3 supplementation in healthy adults: a comparison between capsule and oral spray solution as a method of delivery in a wintertime, randomised, open-label, cross-over study.
Br J Nutr;
116(8): 1402-1408, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27724992
5.
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.
EClinicalMedicine;
68: 102433, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38318125
6.
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
J Neuromuscul Dis;
8(4): 657-668, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33646171
7.
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Orphanet J Rare Dis;
15(1): 113, 2020 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32381029
8.
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Skelet Muscle;
10(1): 32, 2020 11 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33190635
9.
Assessing Motor Function in Congenital Muscular Dystrophy Patients Using Accelerometry.
J Neurosci Nurs;
52(4): 172-178, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32511172
10.
Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies.
Neurology;
94(13): e1434-e1444, 2020 03 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-31941795
11.
Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders.
J Neuromuscul Dis;
6(1): 133-141, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30714968
12.
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Neurotherapeutics;
15(4): 885-899, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30406384
13.
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
J Neuromuscul Dis;
10(1): 135-154, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36404556
14.
Inflammatory response following in vitro exposure to methylmercury with and without n-3 long chain polyunsaturated fatty acids in peripheral blood mononuclear cells from systemic lupus erythematosus patients compared to healthy controls.
Toxicol In Vitro;
52: 272-278, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-29778720
15.
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
J Neurol;
265(11): 2506-2524, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30155738
16.
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Front Neurol;
9: 118, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29556213
17.
Vitamin D: recent advances and implications for athletes.
Sports Med;
45(2): 213-29, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25252613
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