Found: 148
Select item for more details and to access through your institution.
Relationship between TNF-α, MMP-8, and MMP-9 levels in gingival crevicular fluid and the subgingival microbiota in periodontal disease.
- Published in:
- Odontology, 2020, v. 108, n. 1, p. 25, doi. 10.1007/s10266-019-00435-5
- By:
- Publication type:
- Article
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 135, doi. 10.1007/s00439-002-0869-1
- By:
- Publication type:
- Article
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 855, doi. 10.3233/JND-230085
- By:
- Publication type:
- Article
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 125, doi. 10.3233/JND-221555
- By:
- Publication type:
- Article
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 649, doi. 10.3233/JND-220823
- By:
- Publication type:
- Article
Knowledge about COVID-19 between Children and Adolescents with and without High Intellectual Abilities.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 17, p. 2408, doi. 10.3390/healthcare11172408
- By:
- Publication type:
- Article
Validez predictiva de las competencias socioemocionales sobre la resiliencia en adolescentes mexicanos.
- Published in:
- Diversitas (17949998), 2019, v. 15, n. 1, p. 87, doi. 10.15332/s1794-9998.2019.0001.07
- By:
- Publication type:
- Article
Psychometric Properties of Newly Translated Spanish Life Events Inventory and Daily Hassles Scale.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Potential Impact of Prosthetic Biomaterials on the Periodontium: A Comprehensive Review.
- Published in:
- Molecules, 2023, v. 28, n. 3, p. 1075, doi. 10.3390/molecules28031075
- By:
- Publication type:
- Article
Factores individuales que protegen o favorecen el riesgo de suicidio adolescente: estudio cualitativo con grupos focales.
- Published in:
- Duazary. Revista de la Facultad de Ciencias de la Salud, 2020, v. 17, n. 1, p. 36, doi. 10.21676/2389783X.3220
- By:
- Publication type:
- Article
Eficacia de una intervención para incrementar la inteligencia socioemocional en estudiantes mexicanos de bachillerato.
- Published in:
- Informes Psicológicos, 2023, v. 23, n. 1, p. 83, doi. 10.18566/infpsic.v23n1a05
- By:
- Publication type:
- Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
- By:
- Publication type:
- Article
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 20, p. 4473, doi. 10.1093/hmg/dds289
- By:
- Publication type:
- Article
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 4, p. 694, doi. 10.1093/hmg/ddq515
- By:
- Publication type:
- Article
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 24, p. 4820, doi. 10.1093/hmg/ddq413
- By:
- Publication type:
- Article
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
- Published in:
- Science Translational Medicine, 2019, v. 11, n. 484, p. N.PAG, doi. 10.1126/scitranslmed.aav1866
- By:
- Publication type:
- Article
Job satisfaction in graduates of the career of dental surgeon: a cross sectional study.
- Published in:
- RGO: Revista Gaúcha de Odontologia, 2021, v. 69, p. 1, doi. 10.1590/1981-8637202100312020186
- By:
- Publication type:
- Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.74
- By:
- Publication type:
- Article
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
- Published in:
- 2017
- By:
- Publication type:
- journal article
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
- Published in:
- 2020
- By:
- Publication type:
- journal article
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
- Published in:
- 2018
- By:
- Publication type:
- journal article
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Mutation-specific effects on thin filament length in thin filament myopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 6, p. 891, doi. 10.1002/ana.24284
- By:
- Publication type:
- Article
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
- Published in:
- Annals of Neurology, 2013, v. 74, n. 6, p. 914, doi. 10.1002/ana.23963
- By:
- Publication type:
- Article
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 1, p. 306, doi. 10.3390/ijms22010306
- By:
- Publication type:
- Article
Emotional Intelligence and its Relationship with Gender, Academic Performance and Intellectual Abilities of Undergraduates.
- Published in:
- Electronic Journal of Research in Educational Psychology, 2013, p. 395, doi. 10.14204/ejrep.30.12204
- By:
- Publication type:
- Article
Factor structure and internal reliability of an exercise health belief model scale in a Mexican population.
- Published in:
- 2017
- By:
- Publication type:
- journal article
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 27, doi. 10.1007/s10048-003-0165-9
- By:
- Publication type:
- Article
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 2, p. 375, doi. 10.1007/s00401-021-02319-x
- By:
- Publication type:
- Article
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 3, p. 501, doi. 10.1007/s00401-019-01963-8
- By:
- Publication type:
- Article
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
- Published in:
- Acta Neuropathologica, 2017, v. 134, n. 6, p. 889, doi. 10.1007/s00401-017-1748-0
- By:
- Publication type:
- Article
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
- Published in:
- Acta Neuropathologica, 2017, v. 133, n. 4, p. 517, doi. 10.1007/s00401-016-1656-8
- By:
- Publication type:
- Article
Reply: “Necklace” fibers and “trilaminar” fibers are different.
- Published in:
- 2009
- By:
- Publication type:
- Letter
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 3, p. 283, doi. 10.1007/s00401-008-0472-1
- By:
- Publication type:
- Article
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 3, p. 293, doi. 10.1007/s00401-008-0479-7
- By:
- Publication type:
- Article
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 846, doi. 10.1002/acn3.51031
- By:
- Publication type:
- Article
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01254-y
- By:
- Publication type:
- Article
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01068-4
- By:
- Publication type:
- Article
rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01048-8
- By:
- Publication type:
- Article
Extensive morphological and immunohistochemical characterization in myotubular myopathy.
- Published in:
- Brain & Behavior, 2013, v. 3, n. 4, p. 476, doi. 10.1002/brb3.147
- By:
- Publication type:
- Article
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.01049
- By:
- Publication type:
- Article
N- WASP is required for Amphiphysin-2/ BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 11, p. 1455, doi. 10.15252/emmm.201404436
- By:
- Publication type:
- Article
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01353-0
- By:
- Publication type:
- Article
FACTORES SOCIALES DE RIESGO Y PROTECCIÓN DEL SUICIDIO ADOLESCENTE.
- Published in:
- Avances en Psicología, 2018, v. 26, n. 2, p. 175, doi. 10.33539/avpsicol.2018.v26n2.1189
- By:
- Publication type:
- Article
Clinical utility gene card for: Centronuclear and myotubular myopathies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1, doi. 10.1038/ejhg.2012.91
- By:
- Publication type:
- Article
Mutations in dynamin 2 cause dominant centronuclear myopathy.
- Published in:
- Nature Genetics, 2005, v. 37, n. 11, p. 1207, doi. 10.1038/ng1657
- By:
- Publication type:
- Article