Found: 30
Select item for more details and to access through your institution.
Onasemnogen abeparvovek.
- Published in:
- Remedia, 2021, v. 31, n. 5, p. 450
- By:
- Publication type:
- Article
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 5, p. 713
- By:
- Publication type:
- Article
Spinální svalové atrofie v dětském věku – aktuální stav léčby.
- Published in:
- Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 9
- By:
- Publication type:
- Article
Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.726468
- By:
- Publication type:
- Article
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mutations in the LMNA gene do not cause axonal CMT in Czech patients.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 6, p. 365, doi. 10.1038/jhg.2009.43
- By:
- Publication type:
- Article
Patients' Perceptions of Nusinersen Effects According to Their Responder Status.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3418, doi. 10.3390/jcm13123418
- By:
- Publication type:
- Article
Editorial.
- Published in:
- Česká a Slovenská Neurologie a Neurochirurgie, 2020, v. 83, p. 2S4
- By:
- Publication type:
- Article
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.
- Published in:
- 2013
- By:
- Publication type:
- letter
Czech family confirms the link between FBLN5 and Charcot–Marie–Tooth type 1 neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e232, doi. 10.1093/brain/aws333
- By:
- Publication type:
- Article
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 2, doi. 10.1186/s12883-014-0154-7
- By:
- Publication type:
- Article
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 5, p. 2414, doi. 10.1007/s00415-021-10806-0
- By:
- Publication type:
- Article
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
- Published in:
- Journal of Neurology, 2020, v. 267, n. 1, p. 45, doi. 10.1007/s00415-019-09539-y
- By:
- Publication type:
- Article
Pilotní projekt novorozeneckého screeningu a první zkušenosti s genovou léčbou SMA.
- Published in:
- Pediatrie pro Praxi, 2022, v. 23, p. 12
- By:
- Publication type:
- Article
Spinální svalové atrofie - diagnostika, léčba, výzkum.
- Published in:
- Pediatrie pro Praxi, 2017, v. 18, n. 3, p. 155
- By:
- Publication type:
- Article
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 10, p. 1005, doi. 10.1001/jamaneurol.2022.2480
- By:
- Publication type:
- Article
Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-77882-6
- By:
- Publication type:
- Article
Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 7, p. 924, doi. 10.1177/0883073813492387
- By:
- Publication type:
- Article
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-46
- By:
- Publication type:
- Article
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1360385
- By:
- Publication type:
- Article
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
- Published in:
- Molecular Medicine Reports, 2013, v. 8, n. 6, p. 1779, doi. 10.3892/mmr.2013.1730
- By:
- Publication type:
- Article
Genetic findings in Czech patients with limb girdle muscular dystrophy.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 542, doi. 10.1111/cge.14407
- By:
- Publication type:
- Article
A progressive KY myopathy could be caused by a missense pathogenic variant.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 723, doi. 10.1111/cge.14302
- By:
- Publication type:
- Article
Sekvenování nové generace a jeho aplikace v diagnostice neuromuskulárních onemocnění.
- Published in:
- Czecho-Slovak Pathology & Forensic Medicine / Česko-Slovenská Patologie a Soudní Lékařství, 2021, v. 57, n. 3, p. 150
- By:
- Publication type:
- Article
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 5, p. 819, doi. 10.1002/mus.22189
- By:
- Publication type:
- Article