228 results on '"Potulska‐Chromik, Anna"'
Search Results
2. Expanding TBCE-related phenotype—novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia
3. Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience
4. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
5. Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy
6. Speech Signal Analysis in Patients with Parkinson's Disease, Taking into Account Phonation, Articulation, and Prosody of Speech.
7. Enteric neuropathy - when a surgeon is not immediately needed.
8. Analysis of Handwriting for Recognition of Parkinson's Disease: Current State and New Study.
9. Andersen–Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement
10. Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial
11. Dysregulated iron homeostasis in dystrophin-deficient cardiomyocytes: correction by gene editing and pharmacological treatment
12. Przewlekła zapalna polineuropatia demielinizacyjna — rozpoznanie i leczenie na podstawie kryteriów EAN/PNS z 2021 roku
13. A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure
14. The application of convolutional neural networks in the diagnosis of Parkinson's disease on the basis of handwriting samples.
15. Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy.
16. Dopa-responsive dystonia or early-onset Parkinson disease – Genotype–phenotype correlation
17. Dysregulated iron homeostasis in dystrophin-deficient cardiomyocytes: correction by gene editing and pharmacological treatment.
18. 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
19. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients
20. Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients
21. Abnormal spontaneous activity in primary myopathic disorders
22. BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome
23. Genomic instability in the PARK2 locus is associated with Parkinson’s disease
24. Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
25. Leczenie nusinersenem pacjentów z rdzeniowym zanikiem mięśni w trakcie pandemii COVID-19 — własne doświadczenia i wnioski
26. Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis
27. Analysis of hand and face images for the purpose of engineering support for Parkinson's disease diagnosis
28. The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases
29. Czy wszystkie preparaty toksyny botulinowej typu A są takie same? Porównanie trzech preparatów toksyny botulinowej typu A w zarejestrowanych wskazaniach w neurologii
30. Corrigendum: Pediatric CIDP: Diagnosis and Management. A Single-Center Experience
31. Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?
32. Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe
33. Application of imaging techniques to objectify Finger Tapping Test used in the diagnosis of Parkinson's disease.
34. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
35. Generation of DMBi002-A human induced pluripotent stem cell line from patient with Spinal muscular atrophy type 3
36. A Study on the Possible Diagnosis of Parkinson’s Disease on the Basis of Facial Image Analysis
37. A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease
38. CLINICAL, ELECTROPHYSIOLOGICAL, AND MOLECULAR FINDINGS IN EARLY ONSET HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY
39. Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot–Marie–Tooth disease
40. Pediatric CIDP: Diagnosis and Management. A Single-Center Experience
41. Acute Autonomic Neuropathy as a Rare Cause of Severe Arterial Hypertension in a Child
42. Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients
43. Difficulties of CIDP Diagnosis
44. Singular Dyt6 Phenotypes in Association With New Thap1 Frameshift Mutations
45. Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
46. Spinal muscular atrophy with an overlapping syndrome — “double trouble” or a potentially better outcome?
47. The use of non-linear acoustic analysis to objectively evaluate the voice of people with Parkinson's disease
48. Postępowanie w chorobach pierwotnie mięśniowych w okresie pandemii COVID-19
49. Lack of miR-378 attenuates muscular dystrophy in mdx mice
50. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
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