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Items: 29

1.

Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.

Polanowska KE, Dzieżyc K, Rosewich H, Ohlenbusch A, Seniów JB.

Cogn Behav Neurol. 2018 Dec;31(4):214-219. doi: 10.1097/WNN.0000000000000178.

PMID:
30562231
2.

Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.

Soliman K, Göttfert F, Rosewich H, Thoms S, Gärtner J.

Sci Rep. 2018 May 17;8(1):7809. doi: 10.1038/s41598-018-24119-2.

3.

Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M.

Hum Genet. 2018 Mar;137(3):279-280. doi: 10.1007/s00439-018-1870-7.

PMID:
29435658
4.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M.

Hum Genet. 2018 Feb;137(2):111-127. doi: 10.1007/s00439-017-1862-z. Epub 2018 Jan 5. Erratum in: Hum Genet. 2018 Feb 12;:.

PMID:
29305691
5.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K.

Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr.

6.

Peroxisomal protein PEX13 functions in selective autophagy.

Lee MY, Sumpter R Jr, Zou Z, Sirasanagandla S, Wei Y, Mishra P, Rosewich H, Crane DI, Levine B.

EMBO Rep. 2017 Jan;18(1):48-60. doi: 10.15252/embr.201642443. Epub 2016 Nov 8.

7.

Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients.

Rosewich H, Dechent P, Krause C, Ohlenbusch A, Brockmann K, Gärtner J.

J Inherit Metab Dis. 2016 Nov;39(6):869-876. Epub 2016 Aug 3.

PMID:
27488561
8.

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

Lüsebrink N, Porto L, Waterham HR, Ferdinandusse S, Rosewich H, Kurlemann G, Kieslich M.

Eur J Paediatr Neurol. 2016 Mar;20(2):331-335. doi: 10.1016/j.ejpn.2015.11.008. Epub 2015 Dec 1.

PMID:
26700162
9.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM.

Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.

10.

Clinical utility gene card for: Zellweger syndrome spectrum.

Rosewich H, Waterham H, Poll-The BT, Ohlenbusch A, Gärtner J.

Eur J Hum Genet. 2015 Aug;23(8). doi: 10.1038/ejhg.2014.250. Epub 2014 Nov 19. No abstract available.

11.

Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.

Rosewich H, Weise D, Ohlenbusch A, Gärtner J, Brockmann K.

Neurology. 2014 Aug 26;83(9):861-3. doi: 10.1212/WNL.0000000000000735. Epub 2014 Jul 23. No abstract available.

PMID:
25056583
12.

A novel ATP1A3 mutation with unique clinical presentation.

Rosewich H, Baethmann M, Ohlenbusch A, Gärtner J, Brockmann K.

J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.

PMID:
24713507
13.

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K.

Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12.

PMID:
24523486
14.

Clinical presentation of pediatric multiple sclerosis before puberty.

Huppke B, Ellenberger D, Rosewich H, Friede T, Gärtner J, Huppke P.

Eur J Neurol. 2014 Mar;21(3):441-6. doi: 10.1111/ene.12327. Epub 2013 Dec 16.

PMID:
24330201
15.

Biopsy findings of symptomatic cerebral X-linked adrenoleucodystrophy and histological differentiation from multiple sclerosis.

Pfeifenbring S, von Baumgarten L, Schüller U, Rosewich H, Thal DR, Wirtz CR, Hecht M, Terpolilli NA, Brück W.

Neuropathol Appl Neurobiol. 2014 Aug;40(5):658-61. doi: 10.1111/nan.12089. No abstract available.

PMID:
24117509
16.

Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.

Krause C, Rosewich H, Woehler A, Gärtner J.

Hum Mol Genet. 2013 Oct 1;22(19):3844-57. doi: 10.1093/hmg/ddt238. Epub 2013 May 27.

PMID:
23716570
17.

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J.

Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.

PMID:
22850527
18.

MicroRNA regulation in experimental autoimmune encephalomyelitis in mice and marmosets resembles regulation in human multiple sclerosis lesions.

Lescher J, Paap F, Schultz V, Redenbach L, Scheidt U, Rosewich H, Nessler S, Fuchs E, Gärtner J, Brück W, Junker A.

J Neuroimmunol. 2012 May 15;246(1-2):27-33. doi: 10.1016/j.jneuroim.2012.02.012. Epub 2012 Mar 22.

PMID:
22445295
19.

Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane.

Hillebrand M, Gersting SW, Lotz-Havla AS, Schäfer A, Rosewich H, Valerius O, Muntau AC, Gärtner J.

J Biol Chem. 2012 Jan 2;287(1):210-21. doi: 10.1074/jbc.M111.272732. Epub 2011 Nov 1.

20.

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

Thoms S, Grønborg S, Rabenau J, Ohlenbusch A, Rosewich H, Gärtner J.

BMC Med Genet. 2011 Aug 16;12:109. doi: 10.1186/1471-2350-12-109.

21.

Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

Grønborg S, Krätzner R, Rosewich H, Gärtner J.

JIMD Rep. 2011;1:29-36. doi: 10.1007/8904_2011_12. Epub 2011 Jun 22.

22.

Rapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum.

Janzen N, Sander S, Terhardt M, Das AM, Sass JO, Kraetzner R, Rosewich H, Peter M, Sander J.

J Lipid Res. 2010 Jun;51(6):1591-8. doi: 10.1194/jlr.D003814. Epub 2010 Jan 21. Erratum in: J Lipid Res. 2011 Sep;52(9):1773. Rosevich, H [corrected to Rosewich, H].

23.

Rational diagnostic strategy for Zellweger syndrome spectrum patients.

Krause C, Rosewich H, Gärtner J.

Eur J Hum Genet. 2009 Jun;17(6):741-8. doi: 10.1038/ejhg.2008.252. Epub 2009 Jan 14.

24.

Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients.

Weller S, Rosewich H, Gärtner J.

J Inherit Metab Dis. 2008 Apr;31(2):270-80. doi: 10.1007/s10545-008-0856-3. Epub 2008 Apr 14.

PMID:
18415699
25.

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

Krause C, Rosewich H, Thanos M, Gärtner J.

Hum Mutat. 2006 Nov;27(11):1157.

PMID:
17041890
26.

Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect.

Rosewich H, Waterham HR, Wanders RJ, Ferdinandusse S, Henneke M, Hunneman D, Gärtner J.

Neuropediatrics. 2006 Apr;37(2):95-8.

PMID:
16773508
27.

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

Rosewich H, Ohlenbusch A, Gärtner J.

J Med Genet. 2005 Sep;42(9):e58.

28.

Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.

Elleder M, Jerábková M, Befekadu A, Hrebícek M, Berná L, Ledvinová J, Hůlková H, Rosewich H, Schymik N, Paton BC, Harzer K.

Neuropediatrics. 2005 Jun;36(3):171-80.

PMID:
15944902
29.

Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis.

Jerkic S, Rosewich H, Scharf JG, Perske C, Füzesi L, Wilichowski E, Gärtner J.

Eur J Pediatr. 2005 May;164(5):306-10. Epub 2005 Feb 22.

PMID:
15726412

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