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High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy.
Johannsen J, Weiss D, Driemeyer J, Olfe J, Stute F, Müller F, Schütt M, Trollmann R, Kölbel H, Schara-Schmidt U, Kirschner J, Pechmann A, Blaschek A, Horber V, Denecke J. Johannsen J, et al. Among authors: kolbel h. Front Pediatr. 2023 Nov 16;11:1259293. doi: 10.3389/fped.2023.1259293. eCollection 2023. Front Pediatr. 2023. PMID: 38034835 Free PMC article.
[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.
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.
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.
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.
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
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
Vill K, Schwartz O, Blaschek A, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Czibere L, Durner J, Eggermann K, Olgemöller B, Harms E, Schara U, Kölbel H, Müller-Felber W. Vill K, et al. Among authors: kolbel h. Orphanet J Rare Dis. 2021 Mar 31;16(1):153. doi: 10.1186/s13023-021-01783-8. Orphanet J Rare Dis. 2021. PMID: 33789695 Free PMC article.
89 results