Detalhe da pesquisa
1.
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Clin Genet
; 104(5): 542-553, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37526466
2.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 93(5): 530-538, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140138
3.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet
; 102(3): 505-514, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499166
4.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
5.
Next generation sequencing and its application in the diagnostics of neuromuscular diseases.
Cesk Patol
; 57(3): 150-153, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34551563
6.
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Neuropediatrics
; 50(1): 57-60, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30517966
7.
A progressive KY myopathy could be caused by a missense pathogenic variant.
Clin Genet
; 103(6): 723-725, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36683559
8.
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
; 89(1): 72-77, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889091
9.
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
J Neurol Neurosurg Psychiatry
; 88(11): 941-952, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28860329
10.
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Brain
; 138(Pt 8): 2161-72, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26072516
11.
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
BMC Neurol
; 14: 154, 2014 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135358
12.
Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations.
Gene
; 910: 148339, 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438057
13.
Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment.
Front Neurol
; 15: 1360385, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38390598
14.
2024 update: European consensus statement on gene therapy for spinal muscular atrophy.
Eur J Paediatr Neurol
; 51: 73-78, 2024 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38878702
15.
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Orphanet J Rare Dis
; 19(1): 66, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355534
16.
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Neurology
; 102(5): e208112, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38335499
17.
Homozygous EXOSC3 mutation c.92GâC, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.
J Neurogenet
; 27(4): 163-9, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23883322
18.
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Mol Genet Genomic Med
; 11(6): e2154, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36840359
19.
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
J Neuromuscul Dis
; 10(2): 173-184, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373291
20.
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
J Neurol
; 269(5): 2414-2429, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559299