Found: 13
Select item for more details and to access through your institution.
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.
- Published in:
- Scientific Reports, 2016, p. 20466, doi. 10.1038/srep20466
- By:
- Publication type:
- Article
VCP-related myopathy: a case series and a review of literature.
- Published in:
- Acta Myologica, 2023, v. 42, n. 1, p. 2, doi. 10.36185/2532-1900-244
- By:
- Publication type:
- Article
Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2624, doi. 10.3390/ijms23052624
- By:
- Publication type:
- Article
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
- Published in:
- Acta Neuropathologica, 2020, v. 140, n. 2, p. 231, doi. 10.1007/s00401-020-02164-4
- By:
- Publication type:
- Article
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community.
- Published in:
- Open Journal of Bioresources, 2017, v. 4, p. 1, doi. 10.5334/ojb.29
- By:
- Publication type:
- Article
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 9, p. 4538, doi. 10.1007/s00415-023-11729-8
- By:
- Publication type:
- Article
Extracellular Vesicles Derived from Mesenchymal Stromal Cells Delivered during Hypothermic Oxygenated Machine Perfusion Repair Ischemic/Reperfusion Damage of Kidneys from Extended Criteria Donors.
- Published in:
- Biology (2079-7737), 2022, v. 11, n. 3, p. 350, doi. 10.3390/biology11030350
- By:
- Publication type:
- Article
Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.
- Published in:
- 2018
- By:
- Publication type:
- Letter
SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-89
- By:
- Publication type:
- Article
Development of muscle pathology in canine X-linked muscular dystrophy. II. Quantitative characterization of histopathological progression during postnatal skeletal muscle development.
- Published in:
- Acta Neuropathologica, 2001, v. 101, n. 5, p. 469, doi. 10.1007/s004010000308
- By:
- Publication type:
- Article
Partial laminin α2 chain deficiency in a patient with myopathy resembling inclusion body myositis.
- Published in:
- Annals of Neurology, 2000, v. 47, n. 6, p. 811, doi. 10.1002/1531-8249(200006)47:6<811::AID-ANA16>3.0.CO;2-9
- By:
- Publication type:
- Article