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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
BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.
- Published in:
- Journal of Muscle Research & Cell Motility, 2015, v. 36, n. 6, p. 423, doi. 10.1007/s10974-015-9431-3
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- Publication type:
- Article
GROSS MOTOR FUNCTION DISORDERS IN PATIENTS WITH ALTERNATING HEMIPLEGIA OF CHILDHOOD.
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- 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
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
Propafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal 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
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- 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
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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
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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
Odpowiedź autorów.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2014, v. 72, n. 10, p. 995, doi. 10.5603/KP.2014.0205
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- 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
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- Publication type:
- Article
Analysis of Handwriting for Recognition of Parkinson's Disease: Current State and New Study.
- Published in:
- Electronics (2079-9292), 2024, v. 13, n. 19, p. 3962, doi. 10.3390/electronics13193962
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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
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
Corrigendum: Pediatric CIDP: Diagnosis and Management. A Single-Center Experience.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Pediatric CIDP: Diagnosis and Management. A Single-Center Experience.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.667378
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- 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
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- Publication type:
- Article
Malignant hyperthermia - what do we know in 2019?
- Published in:
- Anaesthesiology Intensive Therapy / Anestezjologia, Intensywna Terapia, 2019, v. 51, n. 3, p. 169, doi. 10.5114/ait.2019.87646
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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
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:
- Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1
- By:
- Publication type:
- 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
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Andersen-Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 2, p. 192, doi. 10.1002/mus.24293
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- Publication type:
- Article
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 6, p. 914, doi. 10.1002/mus.24250
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- Publication type:
- Article
Juvenile seropositive myasthenia gravis with anti-MuSK antibody after thymectomy.
- Published in:
- 2009
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- Publication type:
- Letter
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
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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
Kierunki badań, projekty i osiągnięcia Kliniki Neurologii Warszawskiego uniwersytetu Warszawskiego.
- Published in:
- Wiadomości Lekarskie, 2016, v. 69, n. 3, Part 1, p. 374
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- 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
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- Publication type:
- Article
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
- Published in:
- JAMA Neurology, 2023, v. 80, n. 6, p. 558, doi. 10.1001/jamaneurol.2023.0552
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- Publication type:
- Article
Long lasting dysautonomia due to botulinum toxin B poisoning: clinicallaboratory follow up and difficulties in initial diagnosis.
- Published in:
- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-438
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- Publication type:
- Article
Dysregulated iron homeostasis in dystrophin-deficient cardiomyocytes: correction by gene editing and pharmacological treatment.
- Published in:
- Cardiovascular Research, 2024, v. 120, n. 1, p. 69, doi. 10.1093/cvr/cvad182
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- Publication type:
- Article
The application of convolutional neural networks in the diagnosis of Parkinson's disease on the basis of handwriting samples.
- Published in:
- Przegląd Elektrotechniczny, 2024, v. 2024, n. 4, p. 261, doi. 10.15199/48.2024.04.53
- By:
- Publication type:
- Article
Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy.
- Published in:
- 2021
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- 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
- By:
- 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
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- 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
- By:
- 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
- By:
- Publication type:
- Article