Detalhe da pesquisa
1.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
2.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain
; 146(9): 3800-3815, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913258
3.
Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal.
Eur J Neurol
; 30(1): 266-282, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094738
4.
Transient global amnesia - hippocampal lesions in magnetic resonance imaging.
J Stroke Cerebrovasc Dis
; 32(3): 106951, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565520
5.
Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know.
Neurol Neurochir Pol
; 57(2): 143-150, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478346
6.
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.
Neurol Neurochir Pol
; 57(5): 430-437, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37706668
7.
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Acta Neuropathol
; 144(4): 707-731, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948834
8.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
9.
Myasthenia gravis-treatment and severity in nationwide cohort.
Acta Neurol Scand
; 145(4): 471-478, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981830
10.
Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) - are sex differences important?
Neurol Neurochir Pol
; 56(5): 399-403, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792560
11.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
12.
Myasthenia Gravis in Poland: National Healthcare Database Epidemiological Study.
Neuroepidemiology
; : 1-8, 2021 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33611318
13.
Ultra-low radiation dose protocol for CT-guided intrathecal nusinersen injections for patients with spinal muscular atrophy and severe scoliosis.
Neuroradiology
; 63(4): 539-545, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512541
14.
Comprehensive non-invasive assessment of electrocardiographic abnormalities and cardiac arrhythmias in patients with genetically confirmed mitochondrial diseases.
J Electrocardiol
; 65: 136-142, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33618294
15.
Spinal muscular atrophy: epidemiology and health burden in children - a Polish national healthcare database perspective before introduction of SMA-specific treatment.
Neurol Neurochir Pol
; 55(5): 479-484, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664710
16.
Spinal muscular atrophy - new therapies, new challenges.
Neurol Neurochir Pol
; 54(1): 8-13, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922583
17.
Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.
Neurol Neurochir Pol
; 54(6): 552-560, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33373035
18.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
19.
Randomized Trial of Thymectomy in Myasthenia Gravis.
N Engl J Med
; 375(6): 511-22, 2016 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27509100
20.
Treatment outcome in juvenile-onset myasthenia gravis.
Muscle Nerve
; 59(5): 549-554, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734335