Found: 73
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Treatment outcome in juvenile-onset myasthenia gravis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Abnormal spontaneous activity in primary myopathic disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genome-Wide Association Study of Late-Onset MyastheniaGravis: Confirmation of TNFRSF11A and Identification ofZBTB10 and Three Distinct HLA Associations.
- Published in:
- Molecular Medicine, 2015, v. 21, n. 1, p. 769, doi. 10.2119/molmed.2015.00232
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- Publication type:
- Article
Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 1, p. 22, doi. 10.1111/jns.12152
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- Publication type:
- Article
Real World Evidence on the Effectiveness of Nusinersen within the National Program to Treat Spinal Muscular Atrophy in Poland.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 10, p. 1515, doi. 10.3390/healthcare11101515
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- Publication type:
- Article
High incidence and clinical characteristics of fibromuscular dysplasia in patients with spontaneous cervical artery dissection: The ARCADIA-POL study.
- Published in:
- Vascular Medicine, 2019, v. 24, n. 2, p. 112, doi. 10.1177/1358863X18811596
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- Publication type:
- Article
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
- Published in:
- 2019
- By:
- Publication type:
- corrected article
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
- Published in:
- 2018
- 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:
- 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
The LITAF/ SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.
- Published in:
- Neurogenetics, 2015, v. 16, n. 1, p. 27, doi. 10.1007/s10048-014-0426-9
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- Publication type:
- Article
L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype.
- Published in:
- Neurogenetics, 2010, v. 11, n. 3, p. 357, doi. 10.1007/s10048-010-0237-6
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- 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
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- Publication type:
- Article
Myasthenia Gravis in Poland: National Healthcare Database Epidemiological Study.
- Published in:
- Neuroepidemiology, 2021, v. 55, n. 1, p. 62, doi. 10.1159/000512973
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- Publication type:
- Article
Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?
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- Neuroepidemiology, 2010, v. 34, n. 3, p. 152, doi. 10.1159/000275492
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- 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
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- Publication type:
- Article
Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know.
- Published in:
- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2023, v. 57, n. 2, p. 143, doi. 10.5603/PJNNS.a2022.0075
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- Publication type:
- Article
Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) — are sex differences important?
- Published in:
- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2022, v. 56, n. 5, p. 399, doi. 10.5603/PJNNS.a2022.0051
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- Publication type:
- Article
Spinal muscular atrophy: epidemiology and health burden in children -- a Polish national healthcare database perspective before introduction of SMA-specific treatment.
- Published in:
- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2021, v. 55, n. 5, p. 479
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- Publication type:
- Article
Facial onset sensory and motor neuronopathy syndrome -- a rare variant of motor neurone disease.
- Published in:
- 2021
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- Publication type:
- Letter to the Editor
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
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- Publication type:
- Article
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
- Published in:
- Acta Neuropathologica, 2022, v. 144, n. 4, p. 707, doi. 10.1007/s00401-022-02475-8
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- Publication type:
- Article
Prevalence and impact of autoimmune thyroid disease on myasthenia gravis course.
- Published in:
- Brain & Behavior, 2016, v. 6, n. 10, p. n/a, doi. 10.1002/brb3.537
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- Publication type:
- Article
Determinants of Quality of Life in Myasthenia Gravis Patients.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.553626
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- Publication type:
- Article
Application of imaging techniques to objectify Finger Tapping Test used in the diagnosis of Parkinson's disease.
- Published in:
- Bulletin of the Polish Academy of Sciences: Technical Sciences, 2023, v. 71, n. 2, p. 1, doi. 10.24425/bpasts.2023.144886
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- Publication type:
- Article
Deep learning vs feature engineering in the assessment of voice signals for diagnosis in Parkinson's disease.
- Published in:
- Bulletin of the Polish Academy of Sciences: Technical Sciences, 2021, v. 69, n. 3, p. 1, doi. 10.24425/bpasts.2021.137347
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- Publication type:
- Article
Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 54, doi. 10.3390/genes12010054
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- Publication type:
- Article
Unaffected patients with a homozygous absence of the SMN1 gene.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 930, doi. 10.1038/ejhg.2008.41
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- Publication type:
- Article
Lower BAFF Levels in Myasthenic Patients Treated with Glucocorticoids.
- Published in:
- Archivum Immunologiae & Therapiae Experimentalis, 2021, v. 69, n. 1, p. 1, doi. 10.1007/s00005-021-00626-5
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- Publication type:
- Article
A Study on the Possible Diagnosis of Parkinson's Disease on the Basis of Facial Image Analysis.
- Published in:
- Electronics (2079-9292), 2021, v. 10, n. 22, p. 2832, doi. 10.3390/electronics10222832
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- Publication type:
- Article
Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.
- Published in:
- Folia Neuropathologica, 2012, v. 50, n. 4, p. 369, doi. 10.5114/fn.2012.32366
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- Publication type:
- Article
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 4871, doi. 10.1007/s00415-024-12318-z
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- Publication type:
- Article
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 12, p. 5849, doi. 10.1007/s00415-023-11862-4
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- Publication type:
- Article
Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA).
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
- Published in:
- Journal of Neurology, 2023, v. 270, n. 5, p. 2531, doi. 10.1007/s00415-023-11560-1
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- Publication type:
- Article
Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 8, p. 4421, doi. 10.1007/s00415-022-11084-0
- By:
- Publication type:
- Article
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 1, p. 152, doi. 10.1007/s00415-013-7154-1
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- Publication type:
- Article
Przewlekła zapalna polineuropatia demielinizacyjna -- rozpoznanie i leczenie na podstawie kryteriów EAN/PNS z 2021 roku.
- Published in:
- Polski Przegląd Neurologiczny, 2023, v. 19, n. 3, p. 190, doi. 10.5603/ppn.95450
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- 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
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- Publication type:
- Article
Wspomnienie o Profesor Barbarze Emeryk-Szajewskiej.
- Published in:
- Polski Przegląd Neurologiczny, 2021, v. 17, n. 4, p. VII
- By:
- Publication type:
- Article
Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.692482
- 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
Odpowiedź autorów.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2014, v. 72, n. 10, p. 995, doi. 10.5603/KP.2014.0205
- By:
- Publication type:
- Article
Should a cardioverter-defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope?
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2014, v. 72, n. 8, p. 755, doi. 10.5603/KP.2014.0153
- By:
- Publication type:
- Article
Ultra-low radiation dose protocol for CT-guided intrathecal nusinersen injections for patients with spinal muscular atrophy and severe scoliosis.
- Published in:
- Neuroradiology, 2021, v. 63, n. 4, p. 539, doi. 10.1007/s00234-021-02643-9
- By:
- Publication type:
- Article
GROSS MOTOR FUNCTION DISORDERS IN PATIENTS WITH ALTERNATING HEMIPLEGIA OF CHILDHOOD.
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 1, p. 24, doi. 10.34763/jmotherandchild.2020241.1935.000003
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- 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