Found: 14
Select item for more details and to access through your institution.
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1
- By:
- Publication type:
- Article
Doświadczenia polskich ośrodków zajmujących się leczeniem pacjentów z rdzeniowym zanikiem mięśni.
- Published in:
- Child Neurology / Neurologia Dziecięca, 2021, v. 31/32, n. 60, p. 11, doi. 10.20966/chn.2021-2022.60.483
- By:
- Publication type:
- Article
Differences in diffusion tensor imaging parameters of brain white matter tracts between patients with myotonic dystrophy type 1 and type 2 -- a retrospective single-centre study.
- Published in:
- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2023, v. 57, n. 5, p. 430, doi. 10.5603/pjnns.95587
- By:
- Publication type:
- Article
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3800, doi. 10.1093/brain/awad088
- By:
- Publication type:
- Article
Leczenie nusinersenem pacjentów z rdzeniowym zanikiem mięśni w trakcie pandemii COVID-19 -- własne doświadczenia i wnioski.
- Published in:
- Polski Przegląd Neurologiczny, 2022, v. 18, n. 2, p. 120, doi. 10.5603/ppn.2022.0016
- By:
- Publication type:
- Article
Cardiac autonomic function in type 1 and type 2 myotonic dystrophy.
- Published in:
- Clinical Autonomic Research, 2017, v. 27, n. 3, p. 193, doi. 10.1007/s10286-017-0413-y
- By:
- Publication type:
- Article
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-47849-3
- By:
- Publication type:
- Article
Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02769-4
- By:
- Publication type:
- Article
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 951, doi. 10.1007/s00439-015-1578-x
- By:
- Publication type:
- Article
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0170-1
- By:
- Publication type:
- Article
Screening for late‐onset Pompe disease in Poland.
- Published in:
- Acta Neurologica Scandinavica, 2019, v. 140, n. 4, p. 239, doi. 10.1111/ane.13133
- By:
- Publication type:
- Article
Supraventricular and Ventricular Arrhythmias Are Related to the Type of Myotonic Dystrophy but Not to Disease Duration or Neurological Status.
- Published in:
- Pacing & Clinical Electrophysiology, 2016, v. 39, n. 9, p. 959, doi. 10.1111/pace.12924
- By:
- Publication type:
- Article
Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 17, p. 3285, doi. 10.1093/hmg/ddx212
- By:
- Publication type:
- Article