Diebold I - Search Results

1

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB. Braunisch MC, et al. Among authors: diebold i. Clin Genet. 2018 Feb;93(2):255-265. doi: 10.1111/cge.13084. Epub 2017 Nov 8. Clin Genet. 2018. PMID: 28653766

2

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.

Abicht A, Scharf F, Kleinle S, Schön U, Holinski-Feder E, Horvath R, Benet-Pagès A, Diebold I. Abicht A, et al. Among authors: diebold i. Mol Genet Genomic Med. 2018 Nov;6(6):1188-1198. doi: 10.1002/mgg3.500. Epub 2018 Nov 8. Mol Genet Genomic Med. 2018. PMID: 30406974 Free PMC article.

3

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. 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

4

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.

Diebold I, Schön U, Scharf F, Benet-Pagès A, Laner A, Holinski-Feder E, Abicht A. Diebold I, et al. Hum Mutat. 2020 May;41(5):1025-1032. doi: 10.1002/humu.23996. Epub 2020 Feb 18. Hum Mutat. 2020. PMID: 32048431 Free PMC article.

5

Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.

Abicht A, Schön U, Laner A, Holinski-Feder E, Diebold I. Abicht A, et al. Among authors: diebold i. Cardiovasc Diagn Ther. 2021 Apr;11(2):637-649. doi: 10.21037/cdt-20-585. Cardiovasc Diagn Ther. 2021. PMID: 33968641 Free PMC article.

6

Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.

Reilich P, Schlotter B, Montagnese F, Jordan B, Stock F, Schäff-Vogelsang M, Hotter B, Eger K, Diebold I, Erdmann H, Becker K, Schön U, Abicht A. Reilich P, et al. Among authors: diebold i. Neuromuscul Disord. 2021 Feb;31(2):123-133. doi: 10.1016/j.nmd.2020.11.011. Epub 2020 Nov 28. Neuromuscul Disord. 2021. PMID: 33414056

7

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.

Schön U, Holzer A, Laner A, Kleinle S, Scharf F, Benet-Pagès A, Peschel O, Holinski-Feder E, Diebold I. Schön U, et al. Among authors: diebold i. BMC Med Genomics. 2021 Mar 31;14(1):94. doi: 10.1186/s12920-021-00946-7. BMC Med Genomics. 2021. PMID: 33789662 Free PMC article.

8

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Trifunov S, Pyle A, Valentino ML, Liguori R, Yu-Wai-Man P, Burté F, Duff J, Kleinle S, Diebold I, Rugolo M, Horvath R, Carelli V. Trifunov S, et al. Among authors: diebold i. Sci Rep. 2018 Aug 3;8(1):11682. doi: 10.1038/s41598-018-30143-z. Sci Rep. 2018. PMID: 30076399 Free PMC article.

9

Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.

Dzinovic I, Škorvánek M, Necpál J, Boesch S, Švantnerová J, Wagner M, Havránková P, Pavelekova P, Haň V, Janzarik WG, Berweck S, Diebold I, Kuster A, Jech R, Winkelmann J, Zech M. Dzinovic I, et al. Among authors: diebold i. Parkinsonism Relat Disord. 2021 Sep;90:73-78. doi: 10.1016/j.parkreldis.2021.08.007. Epub 2021 Aug 11. Parkinsonism Relat Disord. 2021. PMID: 34399161

10

Elafin Reverses Pulmonary Hypertension via Caveolin-1-Dependent Bone Morphogenetic Protein Signaling.

Nickel NP, Spiekerkoetter E, Gu M, Li CG, Li H, Kaschwich M, Diebold I, Hennigs JK, Kim KY, Miyagawa K, Wang L, Cao A, Sa S, Jiang X, Stockstill RW, Nicolls MR, Zamanian RT, Bland RD, Rabinovitch M. Nickel NP, et al. Among authors: diebold i. Am J Respir Crit Care Med. 2015 Jun 1;191(11):1273-86. doi: 10.1164/rccm.201412-2291OC. Am J Respir Crit Care Med. 2015. PMID: 25853696 Free PMC article.

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