Vill K - Search Results

1

TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?

Blaschek A, Sitzberger A, Brugger M, Graf E, Berutti R, Zech M, Vill K. Blaschek A, et al. Among authors: vill k. Parkinsonism Relat Disord. 2023 Apr;109:105320. doi: 10.1016/j.parkreldis.2023.105320. Epub 2023 Feb 10. Parkinsonism Relat Disord. 2023. PMID: 36841152 No abstract available.

2

Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants.

Vill K, Schessl J, Teusch V, Schroeder S, Blaschek A, Schoser B, Müller-Felber W. Vill K, et al. Neuromuscul Disord. 2015 Feb;25(2):120-6. doi: 10.1016/j.nmd.2014.09.016. Epub 2014 Oct 22. Neuromuscul Disord. 2015. PMID: 25455803

3

Six-minute walk test versus two-minute walk test in children with Duchenne muscular dystrophy: Is more time more information?

Vill K, Ille L, Schroeder SA, Blaschek A, Müller-Felber W. Vill K, et al. Eur J Paediatr Neurol. 2015 Nov;19(6):640-6. doi: 10.1016/j.ejpn.2015.08.002. Epub 2015 Aug 20. Eur J Paediatr Neurol. 2015. PMID: 26455815 Clinical Trial.

4

Proximal muscular atrophy and weakness: An unusual adverse effect of deferasirox iron chelation therapy.

Vill K, Müller-Felber W, Teusch V, Blaschek A, Gerstl L, Huetker S, Albert MH. Vill K, et al. Neuromuscul Disord. 2016 Apr-May;26(4-5):322-5. doi: 10.1016/j.nmd.2016.02.011. Epub 2016 Feb 23. Neuromuscul Disord. 2016. PMID: 27068298

5

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM, Winkelmann J. Zech M, et al. Among authors: vill k. Am J Hum Genet. 2016 Dec 1;99(6):1377-1387. doi: 10.1016/j.ajhg.2016.10.010. Epub 2016 Nov 10. Am J Hum Genet. 2016. PMID: 27839873 Free PMC article.

6

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

Vill K, Müller-Felber W, Alhaddad B, Strom TM, Teusch V, Weigand H, Blaschek A, Meitinger T, Haack TB. Vill K, et al. Mov Disord. 2017 May;32(5):797-799. doi: 10.1002/mds.26922. Epub 2017 Feb 2. Mov Disord. 2017. PMID: 28150420 No abstract available.

7

Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy.

Vill K, Ille L, Blaschek A, Rawer R, Landgraf MN, Gerstl L, Schroeder SA, Müller-Felber W. Vill K, et al. Neuropediatrics. 2017 Dec;48(6):420-425. doi: 10.1055/s-0037-1603778. Epub 2017 Jun 22. Neuropediatrics. 2017. PMID: 28641335 No abstract available.

8

TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis.

Blaschek A, V Kries R, Lohse P, Huss K, Vill K, Belohradsky BH, Heinen F, Müller-Felber W, Kümpfel T. Blaschek A, et al. Among authors: vill k. Eur J Paediatr Neurol. 2018 Jan;22(1):72-81. doi: 10.1016/j.ejpn.2017.08.007. Epub 2017 Sep 1. Eur J Paediatr Neurol. 2018. PMID: 28927886

9

[Spinal muscular atrophy : Time for newborn screening?].

Vill K, Blaschek A, Schara U, Kölbel H, Hohenfellner K, Harms E, Olgemöller B, Walter MC, Müller-Felber W. Vill K, et al. Nervenarzt. 2017 Dec;88(12):1358-1366. doi: 10.1007/s00115-017-0447-3. Nervenarzt. 2017. PMID: 29101527 Review. German.

10

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

Vill K, Blaschek A, Gläser D, Kuhn M, Haack T, Alhaddad B, Wagner M, Kovacs-Nagy R, Tacke M, Gerstl L, Schroeder AS, Borggraefe I, Mueller C, Schlotter-Weigel B, Schoser B, Walter MC, Müller-Felber W. Vill K, et al. J Neuromuscul Dis. 2017;4(4):315-325. doi: 10.3233/JND-170231. J Neuromuscul Dis. 2017. PMID: 29172004

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