von der Hagen M - Search Results

1

Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children.

Nitz E, Smitka M, Schallner J, Akgün K, Ziemssen T, von der Hagen M, Tüngler V. Nitz E, et al. Among authors: von der hagen m. Ann Clin Transl Neurol. 2021 Oct;8(10):2013-2024. doi: 10.1002/acn3.51449. Epub 2021 Sep 4. Ann Clin Transl Neurol. 2021. PMID: 34482646 Free PMC article.

2

Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.

von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Huebner A. von der Hagen M, et al. Among authors: von moers a. Neuromuscul Disord. 2006 Jan;16(1):4-13. doi: 10.1016/j.nmd.2005.10.001. Epub 2005 Dec 27. Neuromuscul Disord. 2006. PMID: 16378727

3

Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.

Kinder S, Ossig C, Wienecke M, Beyer A, von der Hagen M, Storch A, Smitka M. Kinder S, et al. Among authors: von der hagen m. Eur J Paediatr Neurol. 2015 Jan;19(1):72-4. doi: 10.1016/j.ejpn.2014.10.005. Epub 2014 Nov 3. Eur J Paediatr Neurol. 2015. PMID: 25468264

4

Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration.

Mückschel M, Smitka M, Hermann A, von der Hagen M, Beste C. Mückschel M, et al. Among authors: von der hagen m. Brain Struct Funct. 2016 May;221(4):2251-7. doi: 10.1007/s00429-015-1041-8. Epub 2015 Apr 10. Brain Struct Funct. 2016. PMID: 25859633

5

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M. Sell K, et al. Among authors: von der hagen m. Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007. Epub 2016 Feb 26. Brain Dev. 2016. PMID: 26923722

6

Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al.

Tüngler V, König N, Günther C, Engel K, Fiehn C, Smitka M, von der Hagen M, Berner R, Lee-Kirsch MA. Tüngler V, et al. Among authors: von der hagen m. Ann Rheum Dis. 2016 Dec;75(12):e76. doi: 10.1136/annrheumdis-2016-210565. Epub 2016 Nov 3. Ann Rheum Dis. 2016. PMID: 27811148 No abstract available.

7

Childhood primary large vessel CNS vasculitis: single-centre experience and review of the literature.

Walsh S, Knöfler R, Hahn G, Lohse J, Berner R, Brenner S, Smitka M, von der Hagen M, Hedrich CM. Walsh S, et al. Among authors: von der hagen m. Clin Exp Rheumatol. 2017 Mar-Apr;35 Suppl 103(1):213-220. Epub 2017 Mar 28. Clin Exp Rheumatol. 2017. PMID: 28375836 Review.

8

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Schmelzer L, Smitka M, Wolf C, Lucas N, Tüngler V, Hahn G, Tzschach A, Di Donato N, Lee-Kirsch MA, von der Hagen M. Schmelzer L, et al. Among authors: von der hagen m. Eur J Paediatr Neurol. 2018 Jan;22(1):186-189. doi: 10.1016/j.ejpn.2017.11.003. Epub 2017 Nov 22. Eur J Paediatr Neurol. 2018. PMID: 29221912

9

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: von der hagen m. PLoS One. 2018 Aug 9;13(8):e0201041. doi: 10.1371/journal.pone.0201041. eCollection 2018. PLoS One. 2018. PMID: 30091983 Free PMC article.

10

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.

Alter S, Hotz A, Jahn A, Di Donato N, Schröck E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A. Alter S, et al. Among authors: von der hagen m. Am J Med Genet A. 2018 Dec;176(12):2862-2866. doi: 10.1002/ajmg.a.40634. Epub 2018 Dec 18. Am J Med Genet A. 2018. PMID: 30561130 Review.

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