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Items: 28

1.

Respiratory chain deficiency in nonmitochondrial disease.

Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.

Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun.

2.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

3.

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.

JIMD Rep. 2013;10:17-22. doi: 10.1007/8904_2012_195. Epub 2012 Nov 18.

4.

Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy.

Soysal A, Yüksel B, Czermin B, Aydemir S, Tuğcu B, Aysal F, Arpaci B.

Muscle Nerve. 2013 Feb;47(2):308-9. doi: 10.1002/mus.23641. No abstract available.

PMID:
23349087
5.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.

Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.

6.

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy.

Sitarz KS, Almind GJ, Horvath R, Czermin B, Grønskov K, Pyle A, Taylor RW, Larsen M, Chinnery PF, Yu-Wai-Man P.

Neurology. 2012 Oct 2;79(14):1515-7. doi: 10.1212/WNL.0b013e31826d5f60. Epub 2012 Sep 19. No abstract available.

7.

Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.

Nolte KW, Trepels-Kottek S, Honnef D, Weis J, Bien CG, van Baalen A, Ritter K, Czermin B, Rudnik-Schöneborn S, Wagner N, Häusler M.

Neuropathology. 2013 Feb;33(1):59-67. doi: 10.1111/j.1440-1789.2012.01317.x. Epub 2012 Apr 27.

PMID:
22537151
8.

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor RW, Chinnery PF.

J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):174-8. doi: 10.1136/jnnp-2011-301258. Epub 2011 Oct 29.

PMID:
22036850
9.

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

Mayr JA, Zimmermann FA, Horváth R, Schneider HC, Schoser B, Holinski-Feder E, Czermin B, Freisinger P, Sperl W.

Neuromuscul Disord. 2011 Nov;21(11):803-8. doi: 10.1016/j.nmd.2011.06.005. Epub 2011 Jul 16.

PMID:
21763135
10.

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.

Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW.

Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b. No abstract available.

11.

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H.

J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5.

PMID:
21544567
12.

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R.

Brain. 2011 Jan;134(Pt 1):183-95. doi: 10.1093/brain/awq320. Epub 2010 Dec 17.

13.

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.

J Inherit Metab Dis. 2011 Feb;34(1):197-201. doi: 10.1007/s10545-010-9250-z. Epub 2010 Dec 10.

PMID:
21153446
14.

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M, Lodi T.

Mitochondrion. 2011 Jan;11(1):182-90. doi: 10.1016/j.mito.2010.09.007. Epub 2010 Sep 29.

PMID:
20883824
15.

Clinical and neuropathological findings in patients with TACO1 mutations.

Seeger J, Schrank B, Pyle A, Stucka R, Lörcher U, Müller-Ziermann S, Abicht A, Czermin B, Holinski-Feder E, Lochmüller H, Horvath R.

Neuromuscul Disord. 2010 Nov;20(11):720-4. doi: 10.1016/j.nmd.2010.06.017. Epub 2010 Aug 19.

PMID:
20727754
16.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW.

Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f.

17.

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW.

Mol Genet Metab. 2010 Aug;100(4):345-8. doi: 10.1016/j.ymgme.2010.04.010. Epub 2010 Apr 24.

PMID:
20472482
18.

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, Ah-Kine D, Hudson G, Czermin B, Taylor RW, Horvath R, Chinnery PF.

Ophthalmology. 2010 Aug;117(8):1538-46, 1546.e1. doi: 10.1016/j.ophtha.2009.12.038. Epub 2010 Apr 24.

19.

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.

J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20.

PMID:
20405137
20.

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF.

Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15.

21.

Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita.

Kornblum C, Lutterbey GG, Czermin B, Reimann J, von Kleist-Retzow JC, Jurkat-Rott K, Wattjes MP.

Acta Neurol Scand. 2010 Feb;121(2):131-5. doi: 10.1111/j.1600-0404.2009.01228.x. Epub 2009 Dec 28.

PMID:
20047568
22.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C.

Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. doi: 10.1016/j.bbadis.2009.08.016. Epub 2009 Sep 11. Review.

23.

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.

Horváth R, Bender A, Abicht A, Holinski-Feder E, Czermin B, Trips T, Schneiderat P, Lochmüller H, Klopstock T.

J Neurol. 2009 May;256(5):810-5. doi: 10.1007/s00415-009-5023-8. Epub 2009 Mar 1.

PMID:
19252805
24.

ESC, ESCL and their roles in Polycomb Group mechanisms.

Ohno K, McCabe D, Czermin B, Imhof A, Pirrotta V.

Mech Dev. 2008 May-Jun;125(5-6):527-41. doi: 10.1016/j.mod.2008.01.002. Epub 2008 Jan 12.

25.

The N-terminus of Drosophila SU(VAR)3-9 mediates dimerization and regulates its methyltransferase activity.

Eskeland R, Czermin B, Boeke J, Bonaldi T, Regula JT, Imhof A.

Biochemistry. 2004 Mar 30;43(12):3740-9.

PMID:
15035645
26.

The sounds of silence--histone deacetylation meets histone methylation.

Czermin B, Imhof A.

Genetica. 2003 Mar;117(2-3):159-64. Review.

PMID:
12723695
27.

Drosophila enhancer of Zeste/ESC complexes have a histone H3 methyltransferase activity that marks chromosomal Polycomb sites.

Czermin B, Melfi R, McCabe D, Seitz V, Imhof A, Pirrotta V.

Cell. 2002 Oct 18;111(2):185-96.

28.

Physical and functional association of SU(VAR)3-9 and HDAC1 in Drosophila.

Czermin B, Schotta G, Hülsmann BB, Brehm A, Becker PB, Reuter G, Imhof A.

EMBO Rep. 2001 Oct;2(10):915-9. Epub 2001 Sep 24.

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