Holinski-Feder E - Search Results

1

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB. Braunisch MC, et al. Clin Genet. 2018 Feb;93(2):255-265. doi: 10.1111/cge.13084. Epub 2017 Nov 8. Clin Genet. 2018. PMID: 28653766

2

MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

Morak M, Laner A, Bacher U, Keiling C, Holinski-Feder E. Morak M, et al. Clin Genet. 2010 Oct;78(4):353-63. doi: 10.1111/j.1399-0004.2010.01478.x. Clin Genet. 2010. PMID: 20618354

3

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.

Bulst S, Holinski-Feder E, Payne B, Abicht A, Krause S, Lochmüller H, Chinnery PF, Walter MC, Horvath R. Bulst S, et al. Mol Genet Metab. 2012 Sep;107(1-2):95-103. doi: 10.1016/j.ymgme.2012.04.022. Epub 2012 May 3. Mol Genet Metab. 2012. PMID: 22608879 Free PMC article.

4

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

Bulst S, Abicht A, Holinski-Feder E, Müller-Ziermann S, Koehler U, Thirion C, Walter MC, Stewart JD, Chinnery PF, Lochmüller H, Horvath R. Bulst S, et al. Hum Mol Genet. 2009 May 1;18(9):1590-9. doi: 10.1093/hmg/ddp074. Epub 2009 Feb 16. Hum Mol Genet. 2009. PMID: 19221117

5

Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products.

Grimm L, Holinski-Feder E, Teodoridis J, Scheffer B, Schindelhauer D, Meitinger T, Ueffing M. Grimm L, et al. Hum Mol Genet. 1998 Nov;7(12):1873-86. doi: 10.1093/hmg/7.12.1873. Hum Mol Genet. 1998. PMID: 9811930

6

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF. Holinski-Feder E, et al. Am J Hum Genet. 2000 Jan;66(1):16-25. doi: 10.1086/302703. Am J Hum Genet. 2000. PMID: 10631133 Free PMC article.

7

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

Schara U, von Kleist-Retzow JC, Lainka E, Gerner P, Pyle A, Smith PM, Lochmüller H, Czermin B, Abicht A, Holinski-Feder E, Horvath R. Schara U, et al. J Inherit Metab Dis. 2011 Feb;34(1):197-201. doi: 10.1007/s10545-010-9250-z. Epub 2010 Dec 10. J Inherit Metab Dis. 2011. PMID: 21153446

8

Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues.

Jedele KB, Wahl D, Chahrokh-Zadeh S, Wirtz A, Murken J, Holinski-Feder E. Jedele KB, et al. Clin Genet. 1998 Aug;54(2):148-51. doi: 10.1111/j.1399-0004.1998.tb03718.x. Clin Genet. 1998. PMID: 9761394

9

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.

Marina AD, Schara U, Pyle A, Möller-Hartmann C, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, Griffin H, Santibanez-Koref M, Chinnery PF, Horvath R. Marina AD, et al. JIMD Rep. 2013;10:17-22. doi: 10.1007/8904_2012_195. Epub 2012 Nov 18. JIMD Rep. 2013. PMID: 23430795 Free PMC article.

10

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R. Walter MC, et al. J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20. J Neurol. 2010. PMID: 20405137

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