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Central core disease due to recessive mutations in RYR1 gene: Is it more common than described?
Muscle & nerve, 2007-05, Vol.35 (5), p.670-674
2007
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Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion
JIMD reports, 2020-07, Vol.54 (1), p.45-53
2020
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Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families
Journal of the neurological sciences, 2020-08, Vol.415, p.116977-116977, Article 116977
2020
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LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability
Journal of molecular neuroscience, 2019-12, Vol.69 (4), p.623-627
2019
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Central core myopathy with autophagy
Muscle & nerve, 2017-08, Vol.56 (2), p.E8-E9
2017
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Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G
Journal of molecular neuroscience, 2013-06, Vol.50 (2), p.339-344
2013
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A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein
Journal of molecular medicine (Berlin, Germany), 2007-04, Vol.85 (4), p.415-420
2007
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Sarcoglycanopathies: A Multiplex Molecular Analysis for the Most Common Mutations
Diagnostic molecular pathology, 2006-06, Vol.15 (2), p.95-100
2006
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Central core myopathy with autophagy: Central Core With Autophagy
Muscle & nerve, 2017-08, Vol.56 (2), p.E8-E9
2017
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Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy
Clinical genetics, 2019-10, Vol.96 (4), p.341-353
2019
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A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of [delta]-SG protein
Journal of molecular medicine (Berlin, Germany), 2007-04, Vol.85 (4), p.415
2007
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Immunohistochemical expression of p53, MDM2, Ki-67 and PCNA in central giant cell granuloma and giant cell tumor
Journal of oral pathology & medicine, 1999-02, Vol.28 (2), p.54-58
1999
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COVID-19-Associated Pulmonary Aspergillosis, March-August 2020
Emerging infectious diseases, 2021-04, Vol.27 (4), p.1077-1086
2021
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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
The EMBO journal, 2020-12, Vol.39 (23), p.e105364-n/a
2020
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Convalescent plasma for COVID-19 in hospitalised patients: an open-label, randomised clinical trial
The European respiratory journal, 2022-02, Vol.59 (2), p.2101471
2022
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Determination of empagliflozin in the presence of its organic impurities and identification of two degradation products using UHPLC-QTOF/MS
Microchemical journal, 2021-02, Vol.161, p.105795, Article 105795
2021
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Ocular complications in adults with psoriasis: a cross-sectional study in a referral center in Brazil
International ophthalmology, 2024-05, Vol.44 (1), p.215-215, Article 215
2024
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Antioxidant, anti-inflammatory and beneficial metabolic effects of botryosphaeran [(1→3)(1→6)-β-d-glucan] are responsible for its anti-tumour activity in experimental non-obese and obese rats bearing Walker-256 tumours
Cell biochemistry and function, 2022-03, Vol.40 (2), p.213-227
2022
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Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
BMC clinical pathology, 2014-10, Vol.14 (1), p.41-41, Article 41
2014
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Antioxidant, anti-inflammatory and beneficial metabolic effects of botryosphaeran (1→3)(1→6)-β-d-glucan are responsible for its anti-tumour activity in experimental non-obese and obese rats bearing Walker-256 tumours
Cell biochemistry and function, 2022-03, Vol.40 (2), p.213
2022
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Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
BMC clinical pathology, 2014, Vol.14, p.41-41
2014
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