Gencik M - Search Results

1

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.

Kazek B, Jamroz E, Gencik M, Jezela Stanek A, Marszal E, Wojaczynska-Stanek K. Kazek B, et al. Among authors: gencik m. J Child Neurol. 2007 Nov;22(11):1256-9. doi: 10.1177/0883073807307092. J Child Neurol. 2007. PMID: 18006953

2

Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.

Brackmann FA, Kiefer A, Agaimy A, Gencik M, Trollmann R. Brackmann FA, et al. Among authors: gencik m. Pediatr Neurol. 2011 Jun;44(6):475-7. doi: 10.1016/j.pediatrneurol.2011.01.012. Pediatr Neurol. 2011. PMID: 21555062

3

Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

Arning L, Jagiello P, Schara U, Vorgerd M, Dahmen N, Gencikova A, Mortier W, Epplen JT, Gencik M. Arning L, et al. Among authors: gencik m. J Neurol. 2004 Jan;251(1):72-8. doi: 10.1007/s00415-004-0274-x. J Neurol. 2004. PMID: 14999492

4

A prepro-orexin gene polymorphism is associated with narcolepsy.

Gencik M, Dahmen N, Wieczorek S, Kasten M, Bierbrauer J, Anghelescu I, Szegedi A, Menezes Saecker AM, Epplen JT. Gencik M, et al. Neurology. 2001 Jan 9;56(1):115-7. doi: 10.1212/wnl.56.1.115. Neurology. 2001. PMID: 11148249

5

Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease.

Saft C, Andrich JE, Brune N, Gencik M, Kraus PH, Przuntek H, Epplen JT. Saft C, et al. Among authors: gencik m. J Neurol Neurosurg Psychiatry. 2004 Dec;75(12):1692-6. doi: 10.1136/jnnp.2003.022756. J Neurol Neurosurg Psychiatry. 2004. PMID: 15548484 Free PMC article.

6

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

Cetin H, Wöhrer A, Rittelmeyer I, Gencik M, Zulehner G, Zimprich F, Ströbel T, Zimprich A. Cetin H, et al. Among authors: gencik m. Clin Genet. 2016 Oct;90(4):366-71. doi: 10.1111/cge.12724. Epub 2016 Feb 3. Clin Genet. 2016. PMID: 26748608

7

Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies.

Vorgerd M, Gencik M, Mortier J, Epplen JT, Malin JP, Mortier W. Vorgerd M, et al. Among authors: gencik m. Muscle Nerve. 2001 Mar;24(3):421-4. doi: 10.1002/1097-4598(200103)24:3<421::aid-mus1016>3.0.co;2-r. Muscle Nerve. 2001. PMID: 11353430

8

[Diagnosis of neuromuscular diseases: progress with molecular genetic techniques].

Gencik M, Epplen JT, Mortier W. Gencik M, et al. Dtsch Med Wochenschr. 1999 Jan 29;124(4):85-7. doi: 10.1055/s-2007-1024247. Dtsch Med Wochenschr. 1999. PMID: 10071605 Review. German. No abstract available.

9

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.

Jagiello P, Hammans C, Wieczorek S, Arning L, Stefanski A, Strehl H, Epplen JT, Gencik M. Jagiello P, et al. Among authors: gencik m. Hum Mutat. 2003 Jun;21(6):630-5. doi: 10.1002/humu.10220. Hum Mutat. 2003. PMID: 12754710

10

On the genetic contribution to selected multifactorial diseases with autoimmune characteristics.

Miterski B, Epplen JT, Gencik M. Miterski B, et al. Among authors: gencik m. Cell Mol Biol (Noisy-le-grand). 2002 May;48(3):331-41. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 12030439 Review.

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