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Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Phospholipids: Identification and Implication in Muscle Pathophysiology.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8176, doi. 10.3390/ijms22158176
- By:
- Publication type:
- Article
Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6039, doi. 10.3390/ijms22116039
- By:
- Publication type:
- Article
A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
- Published in:
- EMBO Reports, 2006, v. 7, n. 4, p. 450, doi. 10.1038/sj.embor.7400648
- By:
- Publication type:
- Article
Pentraxin 3 (PTX3): A Molecular Marker of Endothelial Dysfunction in Chronic Migraine.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 849, doi. 10.3390/jcm9030849
- By:
- Publication type:
- Article
External Validation of SAFE Score to Predict Atrial Fibrillation Diagnosis after Ischemic Stroke: A Retrospective Multicenter Study.
- Published in:
- Stroke Research & Treatment, 2023, p. 1, doi. 10.1155/2023/6655772
- By:
- Publication type:
- Article
Pathologies musculaires liées à la titine: Un domaine en émergence.
- Published in:
- Médecine Sciences, 2017, v. 33, p. 16, doi. 10.1051/medsci/201733s104
- By:
- Publication type:
- Article
Orientation diagnostique d’un cas de « Rigid spine » familial par IRM musculaire corps entier
- Published in:
- Médecine Sciences, 2016, v. 32, p. 14, doi. 10.1051/medsci/201632s205
- By:
- Publication type:
- Article
Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023094
- By:
- Publication type:
- Article
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Accompagner l’intégration des élèves réfugié.e.s et de leurs parents à l’école : analyse du développement du dispositif AIS-Scolaire.
- Published in:
- Revue Hybride de l'Éducation (RHÉ), 2024, v. 8, n. 2, p. 1, doi. 10.1522/rhe.v8i2.1569
- By:
- Publication type:
- Article
Global Optimization for Automatic Model Points Selection in Life Insurance Portfolios.
- Published in:
- Mathematics (2227-7390), 2021, v. 9, n. 5, p. 472, doi. 10.3390/math9050472
- By:
- Publication type:
- Article
El hospital en los tiempos del Covid-19: ingresos y mortalidad.
- Published in:
- Galicia Clínica, 2021, v. 82, n. 2, p. 72, doi. 10.22546/61/2309
- By:
- Publication type:
- Article
Clinical utility gene card for: Multi-minicore disease.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.180
- By:
- Publication type:
- Article
PROTOCOLO DE MANEJO DEL PACIENTE CON TERAPIA DE ÓXIDO NÍTRICO.
- Published in:
- Enfermería en Cardiologia, 2017, v. 24, n. 72, p. 56
- By:
- Publication type:
- Article
CASO CLÍNICO: ISQUEMIA AGUDA TRAS RETIRADA DE BALÓN INTRAAÓRTICO DE CONTRAPULSACIÓN.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Las mujeres en las publicidades argentinas para varones: reforzando modelos de dominación masculina a través de las redes sociales.
- Published in:
- Revista Latinoamericana de Estudios sobre Cuerpos, Emociones y Sociedad, 2020, v. 12, n. 33, p. 81
- By:
- Publication type:
- Article
Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 4, p. 1115, doi. 10.1093/brain/aws036
- By:
- Publication type:
- Article
Early onset collagen VI myopathies: Genetic and clinical correlations.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 4, p. 511, doi. 10.1002/ana.22087
- By:
- Publication type:
- Article
Oxidative stress in SEPN1-related myopathy: From pathophysiology to treatment.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 6, p. 677, doi. 10.1002/ana.21644
- By:
- Publication type:
- Article
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 2, p. 177, doi. 10.1002/ana.21417
- By:
- Publication type:
- Article
C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 4, p. 340, doi. 10.1002/ana.21089
- By:
- Publication type:
- Article
SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 3, p. 546
- By:
- Publication type:
- Article
Desmin-related myopathy with mallory bodylike inclusions is caused by mutations of the selenoprotein N gene (Accession numbers are listed in the <APPR HREF="app1">Appendix</APPR> on the last page of this article.).
- Published in:
- Annals of Neurology, 2004, v. 55, n. 5, p. 676
- By:
- Publication type:
- Article
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 6, p. 750, doi. 10.1002/ana.10231
- By:
- Publication type:
- Article
Industrial Rotary Kiln Burner Performance with 3D CFD Modeling.
- Published in:
- Fuels, 2023, v. 4, n. 4, p. 454, doi. 10.3390/fuels4040028
- By:
- Publication type:
- Article
Effect of KCl Doping on the Slow Pyrolysis of Lignin.
- Published in:
- CET Journal - Chemical Engineering Transactions, 2020, v. 80, p. 109, doi. 10.3303/CET2080019
- By:
- Publication type:
- Article
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1559, doi. 10.1093/hmg/ddw033
- By:
- Publication type:
- Article
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169189
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- Publication type:
- Article
Masculinidades en el discurso publicitario.
- Published in:
- Question (1669-6581), 2018, v. 1, n. 58, p. 1, doi. 10.24215/16696581e053
- By:
- Publication type:
- Article
Sex-Specific Patterns of Diaphragm Phospholipid Content and Remodeling during Aging and in a Model of SELENON-Related Myopathy.
- Published in:
- Biomedicines, 2023, v. 11, n. 2, p. 234, doi. 10.3390/biomedicines11020234
- By:
- Publication type:
- Article
Abnormal Cellular Phenotypes Induced by Three TMPO /LAP2 Variants Identified in Men with Cardiomyopathies.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 2, p. 337, doi. 10.3390/cells12020337
- By:
- Publication type:
- Article
Calcium and Redox Liaison: A Key Role of Selenoprotein N in Skeletal Muscle.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 5, p. 1116, doi. 10.3390/cells10051116
- By:
- Publication type:
- Article
Selenoprotein N Muscular Dystrophy: Differential Diagnosis for Early-Onset Limited Mobility of the Spine.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 4, p. 316, doi. 10.2310/7010.2006.00080
- By:
- Publication type:
- Article
A Rising Titan: TTN Review and Mutation Update.
- Published in:
- Human Mutation, 2014, v. 35, n. 9, p. 1046, doi. 10.1002/humu.22611
- By:
- Publication type:
- Article
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 411, doi. 10.1002/humu.20879
- By:
- Publication type:
- Article
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
- Published in:
- Human Mutation, 2008, v. 29, n. 5, p. 670, doi. 10.1002/humu.20696
- By:
- Publication type:
- Article
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 61, doi. 10.1002/humu.20409
- By:
- Publication type:
- Article
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1171, doi. 10.1093/hmg/ddg121
- By:
- Publication type:
- Article
Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases.
- Published in:
- Annals of Neurology, 2000, v. 48, n. 5, p. 745, doi. 10.1002/1531-8249(200011)48:5<745::AID-ANA8>3.0.CO;2-F
- By:
- Publication type:
- Article