Kölbel H - Search Results

1

Essen transition model for neuromuscular diseases.

Fleischer M, Coskun B, Stolte B, Della-Marina A, Kölbel H, Lax H, Nonnemacher M, Kleinschnitz C, Schara-Schmidt U, Hagenacker T. Fleischer M, et al. Among authors: kolbel h. Neurol Res Pract. 2022 Sep 5;4(1):41. doi: 10.1186/s42466-022-00206-8. Neurol Res Pract. 2022. PMID: 36058951 Free PMC article.

2

Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.

Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U. Kölbel H, et al. PLoS One. 2017 Mar 9;12(3):e0173144. doi: 10.1371/journal.pone.0173144. eCollection 2017. PLoS One. 2017. PMID: 28278160 Free PMC article.

3

Outcome after Robotic-Assisted Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody-Positive Juvenile Myasthenia Gravis.

Della Marina A, Kölbel H, Müllers M, Kaiser O, Ismail M, Swierzy M, Rueckert JC, Schara U. Della Marina A, et al. Among authors: kolbel h. Neuropediatrics. 2017 Aug;48(4):315-322. doi: 10.1055/s-0037-1603775. Epub 2017 Jun 19. Neuropediatrics. 2017. PMID: 28628938 No abstract available.

4

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.

Paul L, Rupprich K, Della Marina A, Stein A, Elgizouli M, Kaiser FJ, Schweiger B, Köninger A, Iannaccone A, Hehr U, Kölbel H, Roos A, Schara-Schmidt U, Kuechler A. Paul L, et al. Among authors: kolbel h. Orphanet J Rare Dis. 2020 Sep 9;15(1):242. doi: 10.1186/s13023-020-01454-0. Orphanet J Rare Dis. 2020. PMID: 32907597 Free PMC article.

5

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.

Della Marina A, Wibbeler E, Abicht A, Kölbel H, Lochmüller H, Roos A, Schara U. Della Marina A, et al. Among authors: kolbel h. Front Hum Neurosci. 2020 Dec 7;14:560860. doi: 10.3389/fnhum.2020.560860. eCollection 2020. Front Hum Neurosci. 2020. PMID: 33364925 Free PMC article.

6

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.

Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A. Gangfuß A, et al. Among authors: kolbel h. Am J Med Genet A. 2021 Apr;185(4):1216-1221. doi: 10.1002/ajmg.a.62070. Epub 2021 Jan 11. Am J Med Genet A. 2021. PMID: 33427397

7

Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.

Kölbel H, Preuße C, Brand L, von Moers A, Della Marina A, Schuelke M, Roos A, Goebel HH, Schara-Schmidt U, Stenzel W. Kölbel H, et al. Neuropathol Appl Neurobiol. 2021 Oct;47(6):856-866. doi: 10.1111/nan.12730. Epub 2021 May 28. Neuropathol Appl Neurobiol. 2021. PMID: 33973272

8

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.

Braun F, Hentschel A, Sickmann A, Marteau T, Hertel S, Förster F, Prokisch H, Wagner M, Wortmann S, Della Marina A, Kölbel H, Roos A, Schara-Schmidt U. Braun F, et al. Among authors: kolbel h. Int J Mol Sci. 2021 Jul 22;22(15):7835. doi: 10.3390/ijms22157835. Int J Mol Sci. 2021. PMID: 34360601 Free PMC article.

9

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.

Gangfuß A, Lochmüller H, Töpf A, O'Heir E, Horvath R, Kölbel H, Schweiger B, Schara-Schmidt U, Roos A. Gangfuß A, et al. Among authors: kolbel h. Am J Med Genet A. 2022 Jan;188(1):283-291. doi: 10.1002/ajmg.a.62494. Epub 2021 Sep 14. Am J Med Genet A. 2022. PMID: 34519148

10

Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy.

Della Marina A, Pawlitzki M, Ruck T, van Baalen A, Vogt N, Schweiger B, Hertel S, Kölbel H, Wiendl H, Preuße C, Roos A, Schara-Schmidt U. Della Marina A, et al. Among authors: kolbel h. Children (Basel). 2021 Aug 24;8(9):721. doi: 10.3390/children8090721. Children (Basel). 2021. PMID: 34572153 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

84 results

Search Page