Found: 35
Select item for more details and to access through your institution.
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 977, doi. 10.3233/JND-230026
- By:
- Publication type:
- Article
Long-read sequencing improves diagnostic rate in neuromuscular disorders.
- Published in:
- Acta Myologica, 2023, v. 42, n. 4, p. 123, doi. 10.36185/2532-1900-394
- By:
- Publication type:
- Article
Panorama of the distal myopathies.
- Published in:
- Acta Myologica, 2020, v. 39, n. 4, p. 245, doi. 10.36185/2532-1900-028
- By:
- Publication type:
- Article
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15906, doi. 10.3390/ijms232415906
- By:
- Publication type:
- Article
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features - a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
- Published in:
- Molecular Neurobiology, 2017, v. 54, n. 9, p. 7212, doi. 10.1007/s12035-016-0242-3
- 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
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0100-3
- By:
- Publication type:
- Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
- Published in:
- Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
- By:
- Publication type:
- Article
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 8, p. 4161, doi. 10.1007/s00415-022-11029-7
- By:
- Publication type:
- Article
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 3, p. 680, doi. 10.1007/s00415-019-09187-2
- By:
- Publication type:
- Article
Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 10, p. 1660, doi. 10.1002/acn3.51665
- By:
- Publication type:
- Article
Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01539-4
- By:
- Publication type:
- Article
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-022-01501-w
- By:
- Publication type:
- Article
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063536
- By:
- Publication type:
- Article
Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052264
- By:
- Publication type:
- Article
Familial polyglucosan body myopathy with unusual phenotype.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 385, doi. 10.1111/nan.12171
- By:
- Publication type:
- Article
The complexity of titin splicing pattern in human adult skeletal muscles.
- Published in:
- Skeletal Muscle, 2018, v. 8, p. 1, doi. 10.1186/s13395-018-0156-z
- By:
- Publication type:
- Article
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
- Published in:
- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0237803
- By:
- Publication type:
- Article
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 11, p. 1584, doi. 10.1373/clinchem.2011.168898
- By:
- Publication type:
- Article
Mutation update for the ACTN2 gene.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1745, doi. 10.1002/humu.24470
- By:
- Publication type:
- Article
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 21, p. 3029, doi. 10.1093/hmg/ddad058
- By:
- Publication type:
- Article
Familial trisomy 6p in mother and daughter.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1675, doi. 10.1002/ajmg.a.35928
- By:
- Publication type:
- Article
Use of animal models to understand titin physiology and pathology.
- Published in:
- Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 20, p. 5103, doi. 10.1111/jcmm.17533
- By:
- Publication type:
- Article
Valosin-containing protein-related myopathy and Meige syndrome: Just a coincidence or not?
- Published in:
- 2019
- By:
- Publication type:
- journal article
Next generation sequencing detection of late onset pompe disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Dominant muscular dystrophy with a novel SYNE1 gene mutation.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 1, p. 145, doi. 10.1002/mus.24357
- By:
- Publication type:
- Article
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06143-3
- By:
- Publication type:
- Article
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 5, p. 557, doi. 10.1001/jamaneurol.2017.4899
- By:
- Publication type:
- Article
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54866-4
- By:
- Publication type:
- Article
Long‐term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 4, p. 1080, doi. 10.1111/ene.15688
- By:
- Publication type:
- Article