Smitka M - Search Results

1

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: smitka 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.

2

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: olfactory bulb aplasia and anosmia.

Gerber JC, Neuhann TM, Tyshchenko N, Smitka M, Hackmann K. Gerber JC, et al. Among authors: smitka m. Am J Med Genet A. 2011 Aug;155A(8):1981-6. doi: 10.1002/ajmg.a.34079. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744487

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: smitka 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: smitka 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: smitka 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: smitka 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

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW. Acuna-Hidalgo R, et al. Among authors: smitka m. PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28346496 Free PMC article.

8

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: smitka m. Clin Exp Rheumatol. 2017 Mar-Apr;35 Suppl 103(1):213-220. Epub 2017 Mar 28. Clin Exp Rheumatol. 2017. PMID: 28375836 Review.

9

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: smitka 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

10

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.

Lenk J, Porrmann J, Smitka M, Eger I, Schröck E, Hackmann K, Herber R, Raiskup F, Tzschach A. Lenk J, et al. Among authors: smitka m. Ophthalmic Genet. 2018 Oct;39(5):645-647. doi: 10.1080/13816810.2018.1502792. Epub 2018 Jul 30. Ophthalmic Genet. 2018. PMID: 30058938

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

57 results

Search Page

Filters