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A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
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- Genes, 2024, v. 15, n. 8, p. 1033, doi. 10.3390/genes15081033
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- Article
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 503, doi. 10.3233/JND-210781
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- Article
Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy.
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- Journal of Neuromuscular Diseases, 2021, v. 8, n. 6, p. 1047, doi. 10.3233/JND-210686
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- Article
Multiple Serotonergic Brainstem Abnormalities in Sudden Infant Death Syndrome.
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- JAMA: Journal of the American Medical Association, 2006, v. 296, n. 17, p. 2124, doi. 10.1001/jama.296.17.2124
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- Article
An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.
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- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199712
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- Publication type:
- Article
Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.
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- Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 218, doi. 10.1002/jgc4.1475
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- Article
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
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- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 466, doi. 10.1002/jgc4.1094
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- Article
Selenoprotein N deficiency in mice is associated with abnormal lung development.
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- FASEB Journal, 2013, v. 27, n. 4, p. 1585, doi. 10.1096/fj.12-212688
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- Publication type:
- Article
α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.
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- FASEB Journal, 2012, v. 26, n. 5, p. 1892, doi. 10.1096/fj.11-194548
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- Publication type:
- Article
α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.
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- FASEB Journal, 2012, v. 26, n. 5, p. 1892, doi. 10.1096/fj.11-194548
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- Publication type:
- Article
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
- Published in:
- 2021
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- Publication type:
- journal article
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3566, doi. 10.1093/hmg/ddu067
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- Publication type:
- Article
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1525, doi. 10.1093/hmg/ddt003
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- Publication type:
- Article
Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance.
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- Human Molecular Genetics, 2012, v. 21, n. 10, p. 2341, doi. 10.1093/hmg/dds053
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- Article
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 811, doi. 10.1093/hmg/ddr512
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- Publication type:
- Article
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2015, doi. 10.1093/hmg/ddr084
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- Article
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.
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- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1712, doi. 10.1093/hmg/ddr047
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- Article
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
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- Human Molecular Genetics, 2009, v. 18, n. 13, p. 2359, doi. 10.1093/hmg/ddp168
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- Publication type:
- Article
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2132, doi. 10.1093/hmg/ddn112
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- Publication type:
- Article
Skeletal muscle repair in a mouse model of nemaline myopathy.
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- Human Molecular Genetics, 2006, v. 15, n. 17, p. 2603, doi. 10.1093/hmg/ddl186
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- Article
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
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- Science Translational Medicine, 2020, v. 12, n. 544, p. 1, doi. 10.1126/scitranslmed.aau9113
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- Article
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors.
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- Science Translational Medicine, 2017, v. 9, n. 376, p. 1, doi. 10.1126/scitranslmed.aah5645
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- Publication type:
- Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
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- Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
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- Publication type:
- Article
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
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- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1229, doi. 10.1038/ejhg.2014.8
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- Article
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
- Published in:
- 2020
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- Publication type:
- journal article
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
- Published in:
- 2020
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- Publication type:
- journal article
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
- Published in:
- 2018
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- Publication type:
- journal article
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0711-9
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- Publication type:
- Article
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
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- Acta Neuropathologica, 2022, v. 144, n. 3, p. 537, doi. 10.1007/s00401-022-02468-7
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- Article
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2288, doi. 10.1002/acn3.51218
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- Publication type:
- Article
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants.
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- Genes, 2023, v. 14, n. 4, p. 779, doi. 10.3390/genes14040779
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- Publication type:
- Article
Clinical utility gene card for: Centronuclear and myotubular myopathies.
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- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1, doi. 10.1038/ejhg.2012.91
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- Article
Mutations in dynamin 2 cause dominant centronuclear myopathy.
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- Nature Genetics, 2005, v. 37, n. 11, p. 1207, doi. 10.1038/ng1657
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- Publication type:
- Article
Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish.
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- PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003583
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- Article
Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.
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- Journal of Cachexia, Sarcopenia & Muscle, 2024, v. 15, n. 3, p. 1003, doi. 10.1002/jcsm.13470
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- Publication type:
- Article
RNA and protein evidence for haplo-insufficiency in Diamond–Blackfan anaemia patients withRPS19mutations.
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- British Journal of Haematology, 2004, v. 127, n. 1, p. 105, doi. 10.1111/j.1365-2141.2004.05152.x
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- Article
Reproducibility of gene expression across generations of Affymetrix microarrays.
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- BMC Bioinformatics, 2003, v. 4, p. 27, doi. 10.1186/1471-2105-4-27
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- Publication type:
- Article
The influence of muscle type and dystrophin deficiency on murine expression profiles.
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- Mammalian Genome, 2005, v. 16, n. 10, p. 739, doi. 10.1007/s00335-005-0053-8
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- Publication type:
- Article
Sarcomeric and nonmuscle α‐actinin isoforms exhibit differential dynamics at skeletal muscle Z‐lines.
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- Cytoskeleton, 2018, v. 75, n. 5, p. 213, doi. 10.1002/cm.21442
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- Publication type:
- Article
A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043794
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- Publication type:
- Article
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02733-2
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- Publication type:
- Article
Defective Ribosomal Protein Gene Expression Alters Transcription, Translation, Apoptosis, and Oncogenic Pathways in Diamond- Blackfan Anemia.
- Published in:
- Stem Cells, 2006, v. 24, n. 9, p. 2034, doi. 10.1634/stemcells.2005-0554
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- Publication type:
- Article
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis.
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- Nature Genetics, 2000, v. 24, n. 3, p. 251, doi. 10.1038/73456
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- Publication type:
- Article
A common nonsense mutation results in α-actinin-3 deficiency in the general population.
- Published in:
- Nature Genetics, 1999, v. 21, n. 4, p. 353, doi. 10.1038/7675
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- Article
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
- Published in:
- Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200013
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- Publication type:
- Article
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
- Published in:
- 2023
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- Publication type:
- Case Study
Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.867371
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- Publication type:
- Article
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.
- Published in:
- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0037-7
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- Publication type:
- Article
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.
- Published in:
- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-014-0025-3
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- Publication type:
- Article