Kölbel H - Search Results

1

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.

Schorling DC, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B, Rombo R; SMArtCARE consortium; Sickmann A, Kirschner J, Schara-Schmidt U, Lochmüller H, Roos A. Schorling DC, et al. Among authors: kolbel h. Eur J Neurol. 2022 Jul;29(7):2084-2096. doi: 10.1111/ene.15331. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35318785

2

Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.

Zaum AK, Stüve B, Gehrig A, Kölbel H, Schara U, Kress W, Rost S. Zaum AK, et al. Among authors: kolbel h. Neuromuscul Disord. 2017 Jul;27(7):631-634. doi: 10.1016/j.nmd.2017.04.003. Epub 2017 Apr 7. Neuromuscul Disord. 2017. PMID: 28495050

3

[Spinal muscular atrophy : Time for newborn screening?].

Vill K, Blaschek A, Schara U, Kölbel H, Hohenfellner K, Harms E, Olgemöller B, Walter MC, Müller-Felber W. Vill K, et al. Among authors: kolbel h. Nervenarzt. 2017 Dec;88(12):1358-1366. doi: 10.1007/s00115-017-0447-3. Nervenarzt. 2017. PMID: 29101527 Review. German.

4

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany.

Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kölbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Denecke J, Weiß C, Theophil M, Kirschner J. Pechmann A, et al. Among authors: kolbel h. J Neuromuscul Dis. 2018;5(2):135-143. doi: 10.3233/JND-180315. J Neuromuscul Dis. 2018. PMID: 29689734 Free PMC article.

5

Characteristic clinical and ultrastructural findings in nesprinopathies.

Kölbel H, Abicht A, Schwartz O, Katona I, Paulus W, Neuen-Jacob E, Weis J, Schara U. Kölbel H, et al. Eur J Paediatr Neurol. 2019 Mar;23(2):254-261. doi: 10.1016/j.ejpn.2018.12.011. Epub 2018 Dec 29. Eur J Paediatr Neurol. 2019. PMID: 30626539

6

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Diebold I, Schön U, Horvath R, Schwartz O, Holinski-Feder E, Kölbel H, Abicht A. Diebold I, et al. Among authors: kolbel h. Mol Cell Probes. 2019 Apr;44:14-20. doi: 10.1016/j.mcp.2019.01.003. Epub 2019 Jan 22. Mol Cell Probes. 2019. PMID: 30682426

7

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.

Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A, Schara U. Kölbel H, et al. Front Neurol. 2019 May 7;10:470. doi: 10.3389/fneur.2019.00470. eCollection 2019. Front Neurol. 2019. PMID: 31133972 Free PMC article.

8

Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy.

Preuße C, von Moers A, Kölbel H, Pehl D, Goebel HH, Schara U, Stenzel W. Preuße C, et al. Among authors: kolbel h. Neuromuscul Disord. 2019 Jul;29(7):487-496. doi: 10.1016/j.nmd.2019.05.003. Epub 2019 May 10. Neuromuscul Disord. 2019. PMID: 31326192

9

One Year of Newborn Screening for SMA - Results of a German Pilot Project.

Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. Vill K, et al. Among authors: kolbel h. J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428. J Neuromuscul Dis. 2019. PMID: 31594245 Free PMC article.

10

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?

Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. Müller-Felber W, et al. Among authors: kolbel h. J Neuromuscul Dis. 2020;7(2):109-117. doi: 10.3233/JND-200475. J Neuromuscul Dis. 2020. PMID: 32144995 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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

89 results

Search Page

Filters