Smitka M - Search Results

1

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

2

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ. Yis U, et al. Among authors: smitka m. Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18. Neuromuscul Disord. 2011. PMID: 20961758

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

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.

6

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.

7

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

8

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.

9

Acquired sensorimotor polyneuropathy in an adolescent boy with primary intracranial sarcoma.

Storch K, Schriever V, Hahn G, Sell K, Smitka M, Suttorp M, von der Hagen M, Schallner J. Storch K, et al. Among authors: smitka m. Eur J Paediatr Neurol. 2019 Jul;23(4):662-667. doi: 10.1016/j.ejpn.2019.04.005. Epub 2019 May 4. Eur J Paediatr Neurol. 2019. PMID: 31105004

10

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

von der Hagen M, Becker LL, Wienker TF, Smitka M, Musante L, Ropers HH, Huebner A, Hu H, Kaindl AM. von der Hagen M, et al. Among authors: smitka m. Neuropediatrics. 2020 Feb;51(1):72-75. doi: 10.1055/s-0039-1695787. Epub 2019 Oct 18. Neuropediatrics. 2020. PMID: 31627234

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