266 results on '"Kölbel, H."'
Search Results
2. Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy – results of a prospective diagnostic study
3. P206 Impaired neurodevelopment in children with 5q-SMA - 2 years after newborn screening
4. P428 Biochemical changes in chorionic villi of LAMA2-patients resemble muscle relevant disease processes
5. O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
6. P294 A comprehensive study of the inflammatory signature in sarcoglycanopathies
7. P405 First clinical and myopathological description of a congenital myopathy based on a homozygous variant in TNNI2
8. Spinale Muskelatrophie: Zeit für das Neugeborenenscreening?
9. VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
10. Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
11. Kleinkind mit sich früh entwickelnder Neuropathie, Klumpfüßen und im Verlauf zunehmender Schwäche der Atemmuskulatur
12. SMA CLINICAL DATA
13. NEW GENES AND DISEASES
14. EP.305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement
15. SMA Clinical Data : Description of cardiac involvement in 5q SMA pediatric patients
16. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
17. Neugeborenenscreening auf spinale Muskelatrophie
18. 172P FUS protein expression in the myopathology of 5q-associated spinal muscular atrophy type 3.
19. HEREDITARY NEUROPATHIES & ALS
20. Description of muscular involvement in a NEFL-caused neurological disease
21. P.28 Introduction of 12 novel pathogenic DMD variants, associated phenotypes and studies of dystrophin and MAST1 abundances
22. First clinical and neuropathological description of a myofibrillar myopathy with congenital onset based on a homozygous recessive FLNC mutation
23. P.82First clinical and neuropathological description of a myofibrillar myopathy with congenital onset based on a homozygous recessive FLNC mutation
24. P.275Determination of protein markers in skeletal muscle of SMA type 3 patients
25. P.211Pilot study of genetic newborn screening for spinal muscular atrophy in Germany: clinical results after more than a year
26. Identifizierung von Markerproteinen in der Skelettmuskulatur bei Laminin-211-defizienten CMD Typ 1A Patienten
27. Ergebnisse aus einem Jahr Neugeborenen Screening hinsichtlich spinaler Muskelatrophie in Deutschland
28. SMA CLINICAL DATA: EP.250 Description of cardiac involvement in 5q SMA pediatric patients
29. Metabolic Myopathies II : P.355Glycogen storage disease type IV: a wide clinical range of neuromuscular phenotypes
30. METABOLIC MYOPATHIES II
31. Myocardial Protection with Cardioplegia in Patients with Severe CAD
32. HEREDITARY NEUROPATHIES & ALS: P.112 Description of muscular involvement in a NEFL-caused neurological disease
33. Über den Wert der fluorescenzmikroskopischen Methode für den Nachweis des Mycobacterium tuberculosis im Menstrualblut
34. Konstitution und Eigenschaften von Tensiden
35. Spinale Muskelatrophie
36. A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosis
37. DYT16 mimics metabolic disease with fever associated beginning of dystonia and MRI abnormalities
38. Unspecific white matter hyperintensity in T2-weighted imaging and dystonia as the first manifestations of ataxia telangiectasia
39. Case Report: Gamma-Sarcoglycanopathy Plus RYR1- and TCAP-Mutations: Do Further Mutations Explain Clinical Variations in Phenotypes of Neuromuscular Diseases?
40. P.379Fetal Acetylcholine Receptor Inactivation Syndrome (FARIS): A potentially treatable autoimmune disorder mimicking a wide range of genetic neuromuscular conditions
41. Nesprinopathies: A wide clinical range of phenotypes and characteristic ultrastructural findings
42. LGMD2I elicits a specific skeletal muscle immune response
43. Massive Parallel Sequencing with a Multigene Panel (MGPS): Experiences with α-Dystroglycanopathies
44. Nesprinopathies: Diagnostic Challenge in a Wide Clinical Range of Phenotypes
45. Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody Positive Juvenile Myasthenia Gravis
46. Analysis of the Specific Immune Response in Skeletal Muscle in LGMD2I Patients
47. Gait Disturbances and Unspecific White Matter Hyperintensity in T2-Weighted Imaging as the First Manifestation of an Ataxia Telangiectasia
48. Formation of terminal secondary and tertiary alkylamines by single-step synthesis from carbon monoxide, steam and monomethylamine and dimethylamine, respectively
49. Das Substrat der Variabilität von Mycobakterien im elektronenmikroskopischen Bild
50. P.494 - A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosis
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