Hengel H - Search Results

1

Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.

Höflinger P, Hauser S, Yutuc E, Hengel H, Griffiths L, Radelfahr F, Howell OW, Wang Y, Connor SL, Duell PB, DeBarber AE, Martus P, Lütjohann D, Griffiths WJ, Schöls L. Höflinger P, et al. Among authors: hengel h. J Lipid Res. 2021;62:100078. doi: 10.1016/j.jlr.2021.100078. Epub 2021 Apr 20. J Lipid Res. 2021. PMID: 33891937 Free PMC article.

2

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report.

Sharkia R, Hengel H, Schöls L, Athamna M, Bauer P, Mahajnah M. Sharkia R, et al. Among authors: hengel h. J Med Case Rep. 2016 Mar 29;10:67. doi: 10.1186/s13256-016-0854-2. J Med Case Rep. 2016. PMID: 27021235 Free PMC article. Review.

3

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity.

Ilg W, Fleszar Z, Schatton C, Hengel H, Harmuth F, Bauer P, Timmann D, Giese M, Schöls L, Synofzik M. Ilg W, et al. Among authors: hengel h. Mov Disord. 2016 Dec;31(12):1891-1900. doi: 10.1002/mds.26835. Epub 2016 Oct 26. Mov Disord. 2016. PMID: 27782309

4

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.

Hengel H, Keimer R, Deigendesch W, Rieß A, Marzouqa H, Zaidan J, Bauer P, Schöls L. Hengel H, et al. Clin Genet. 2018 Oct;94(3-4):356-361. doi: 10.1111/cge.13390. Epub 2018 Jul 10. Clin Genet. 2018. PMID: 29882329

5

Serum neurofilament light chain is increased in hereditary spastic paraplegias.

Wilke C, Rattay TW, Hengel H, Zimmermann M, Brockmann K, Schöls L, Kuhle J, Schüle R, Synofzik M. Wilke C, et al. Among authors: hengel h. Ann Clin Transl Neurol. 2018 May 21;5(7):876-882. doi: 10.1002/acn3.583. eCollection 2018 Jul. Ann Clin Transl Neurol. 2018. PMID: 30009206 Free PMC article.

6

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.

Rattay TW, Just J, Röben B, Hengel H, Schüle R, Synofzik M, Söhn AS, Winter N, Dammeier N, Schöls L, Grimm A. Rattay TW, et al. Among authors: hengel h. Orphanet J Rare Dis. 2018 Nov 3;13(1):194. doi: 10.1186/s13023-018-0939-7. Orphanet J Rare Dis. 2018. PMID: 30390710 Free PMC article.

7

A previously identified missense mutation in STYXL1 is likely benign.

Hengel H, Schelling Y, Keimer R, Deigendesch W, Bauer P, Schöls L. Hengel H, et al. Eur J Med Genet. 2019 Nov;62(11):103582. doi: 10.1016/j.ejmg.2018.11.016. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472486

8

A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.

Sharkia R, Zalan A, Jabareen-Masri A, Hengel H, Schöls L, Kessel A, Azem A, Mahajnah M. Sharkia R, et al. Among authors: hengel h. Am J Med Genet A. 2019 Jul;179(7):1338-1345. doi: 10.1002/ajmg.a.61168. Epub 2019 May 18. Am J Med Genet A. 2019. PMID: 31102500

9

Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).

Rattay TW, Boldt A, Völker M, Wiethoff S, Hengel H, Schüle R, Schöls L. Rattay TW, et al. Among authors: hengel h. J Neurol. 2020 Feb;267(2):369-379. doi: 10.1007/s00415-019-09573-w. Epub 2019 Oct 23. J Neurol. 2020. PMID: 31646384

10

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Schöls L. Hengel H, et al. Eur J Hum Genet. 2020 Aug;28(8):1034-1043. doi: 10.1038/s41431-020-0609-9. Epub 2020 Mar 25. Eur J Hum Genet. 2020. PMID: 32214227 Free PMC article.

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