Kurth I - Search Results

1

Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.

Quade A, Thiel A, Kurth I, Holtgrewe M, Elbracht M, Beule D, Eggermann K, Scholl UI, Häusler M. Quade A, et al. Among authors: kurth i. Eur J Paediatr Neurol. 2020 Mar;25:181-186. doi: 10.1016/j.ejpn.2019.11.002. Epub 2019 Nov 20. Eur J Paediatr Neurol. 2020. PMID: 31810576

2

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M. Elbracht M, et al. Among authors: kurth i. Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26. Neuropediatrics. 2017. PMID: 28024309

3

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

Quade A, Wiesmann M, Weis J, Kurth I, Jalaie H, Rohrbach M, Häusler M. Quade A, et al. Among authors: kurth i. Pediatr Neurol. 2017 Sep;74:92-96. doi: 10.1016/j.pediatrneurol.2017.05.017. Epub 2017 May 29. Pediatr Neurol. 2017. PMID: 28739362

4

Hereditary Neuropathies.

Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Eggermann K, et al. Among authors: kurth i. Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. Dtsch Arztebl Int. 2018. PMID: 29478438 Free PMC article. Review.

5

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].

Elbracht M, Meyer R, Eggermann T, Kurth I. Elbracht M, et al. Among authors: kurth i. Internist (Berl). 2018 Aug;59(8):756-765. doi: 10.1007/s00108-018-0457-7. Internist (Berl). 2018. PMID: 29946883 Review. German.

6

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

Eggermann T, Ledig S, Begemann M, Elbracht M, Kurth I, Wieacker P. Eggermann T, et al. Among authors: kurth i. Mol Genet Genomic Med. 2018 Nov;6(6):1225-1228. doi: 10.1002/mgg3.426. Epub 2018 Aug 11. Mol Genet Genomic Med. 2018. PMID: 30099855 Free PMC article.

7

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers.

Soellner L, Kraft F, Sauer S, Begemann M, Kurth I, Elbracht M, Eggermann T. Soellner L, et al. Among authors: kurth i. Eur J Hum Genet. 2019 Jan;27(1):42-48. doi: 10.1038/s41431-018-0269-1. Epub 2018 Sep 14. Eur J Hum Genet. 2019. PMID: 30218098 Free PMC article.

8

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation.

Quade A, Weis J, Kurth I, Rolke R, Bienert M, Schrading S, Rohrmann D, Yüksel Z, Häusler M. Quade A, et al. Among authors: kurth i. Neuromuscul Disord. 2018 Dec;28(12):1006-1011. doi: 10.1016/j.nmd.2018.08.009. Epub 2018 Aug 29. Neuromuscul Disord. 2018. PMID: 30389422

9

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.

Elbracht M, Kraft F, Begemann M, Holschbach P, Mull M, Kabat IM, Müller B, Häusler M, Kurth I, Hehr U. Elbracht M, et al. Among authors: kurth i. Mol Genet Genomic Med. 2018 Nov;6(6):1255-1260. doi: 10.1002/mgg3.490. Epub 2018 Nov 4. Mol Genet Genomic Med. 2018. PMID: 30393983 Free PMC article.

10

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I. Karsai G, et al. Among authors: kurth i. J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620338 Free PMC article.

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