Schlipf NA - Search Results

1

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P. Schlipf NA, et al. Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25. Mol Genet Genomic Med. 2014. PMID: 25333062 Free PMC article.

2

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P. Schlipf NA, et al. Clin Genet. 2011 Aug;80(2):148-60. doi: 10.1111/j.1399-0004.2011.01715.x. Epub 2011 Jun 13. Clin Genet. 2011. PMID: 21623769

3

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L. Schlipf NA, et al. Eur J Hum Genet. 2010 Sep;18(9):1065-7. doi: 10.1038/ejhg.2010.68. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461110 Free PMC article.

4

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).

Bauer P, Leshinsky-Silver E, Blumkin L, Schlipf N, Schröder C, Schicks J, Lev D, Riess O, Lerman-Sagie T, Schöls L. Bauer P, et al. Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0. Neurogenetics. 2012. PMID: 22290197

5

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P. Dufke C, et al. Neurogenetics. 2012 Aug;13(3):215-27. doi: 10.1007/s10048-012-0329-6. Epub 2012 May 3. Neurogenetics. 2012. PMID: 22552817

6

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P. Schüle R, et al. J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1402-4. doi: 10.1136/jnnp.2008.167528. J Neurol Neurosurg Psychiatry. 2009. PMID: 19917823

7

Lactotransferrin Gene (LTF) Polymorphisms and Dental Implant Loss: A Case-Control Association Study.

Doetzer AD, Schlipf N, Alvim-Pereira F, Alvim-Pereira CC, Werneck R, Riess O, Bauer P, Trevilatto PC. Doetzer AD, et al. Clin Implant Dent Relat Res. 2015 Oct;17 Suppl 2:e550-61. doi: 10.1111/cid.12284. Epub 2014 Dec 23. Clin Implant Dent Relat Res. 2015. PMID: 25535701

8

Lactotransferrin Gene Polymorphism Associated with Caries Experience.

Doetzer AD, Brancher JA, Pecharki GD, Schlipf N, Werneck R, Mira MT, Riess O, Bauer P, Trevilatto PC. Doetzer AD, et al. Caries Res. 2015;49(4):370-7. doi: 10.1159/000366211. Epub 2015 May 13. Caries Res. 2015. PMID: 25998152

9

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.

Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717

10

White sponge nevus - a rare autosomal dominant keratinopathy.

Benoit S, Schlipf N, Hausser I, Fischer J, Hamm H. Benoit S, et al. Klin Padiatr. 2014 Nov;226(6-7):375-6. doi: 10.1055/s-0034-1371843. Epub 2014 May 8. Klin Padiatr. 2014. PMID: 24810752 No abstract available.

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