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Items: 32

1.

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T.

Brain. 2019 Aug 1;142(8):2230-2237. doi: 10.1093/brain/awz182.

PMID:
31332433
2.

Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.

Reunert J, Rust S, Grüneberg M, Seelhöfer A, Kurz D, Ocker V, Weber D, Fingerhut R, Marquardt T.

Am J Med Genet A. 2019 Jul;179(7):1371-1375. doi: 10.1002/ajmg.a.61190. Epub 2019 May 10.

PMID:
31075182
3.

Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes.

Wiegmann H, Reunert J, Metze D, Marquardt T, Engel T, Kunde V, Ehl S, Foell D, van den Heuvel I, Oji V, Wittkowski H.

Br J Dermatol. 2019 May 3. doi: 10.1111/bjd.18091. [Epub ahead of print]

PMID:
31049936
4.

Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.

Wolking AB, Park JH, Grüneberg M, Reunert J, Fingerhut R, Fobker M, Marquardt T.

J Chromatogr B Analyt Technol Biomed Life Sci. 2019 Feb 1;1106-1107:64-70. doi: 10.1016/j.jchromb.2019.01.004. Epub 2019 Jan 7.

PMID:
30641270
5.

QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.

Gödiker J, Grüneberg M, DuChesne I, Reunert J, Rust S, Westermann C, Wada Y, Classen G, Langhans CD, Schlingmann KP, Rodenburg RJ, Pohlmann R, Marquardt T.

J Hum Genet. 2018 Jun;63(6):707-716. doi: 10.1038/s10038-018-0442-y. Epub 2018 Apr 4.

PMID:
29618761
6.

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M.

J Exp Med. 2017 Dec 4;214(12):3707-3729. doi: 10.1084/jem.20170453. Epub 2017 Nov 10.

7.

Limitations of galactose therapy in phosphoglucomutase 1 deficiency.

Nolting K, Park JH, Tegtmeyer LC, Zühlsdorf A, Grüneberg M, Rust S, Reunert J, Du Chesne I, Debus V, Schulze-Bahr E, Baxter RC, Wada Y, Thiel C, van Schaftingen E, Fingerhut R, Marquardt T.

Mol Genet Metab Rep. 2017 Jul 31;13:33-40. doi: 10.1016/j.ymgmr.2017.07.010. eCollection 2017 Dec.

8.

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

Park JH, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, Rust S, Tsiakas K, Santer R, Grüneberg M, Marquardt T.

Genet Med. 2018 Feb;20(2):259-268. doi: 10.1038/gim.2017.106. Epub 2017 Jul 27.

PMID:
28749473
9.

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.

Hogrebe M, Murakami Y, Wild M, Ahlmann M, Biskup S, Hörtnagel K, Grüneberg M, Reunert J, Linden T, Kinoshita T, Marquardt T.

Am J Med Genet A. 2016 Dec;170(12):3319-3322. doi: 10.1002/ajmg.a.37950. Epub 2016 Sep 14.

PMID:
27626616
10.

Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS.

Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326.

11.

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Reunert J, Fobker M, Kannenberg F, Du Chesne I, Plate M, Wellhausen J, Rust S, Marquardt T.

EBioMedicine. 2015 Dec 22;4:170-5. doi: 10.1016/j.ebiom.2015.12.018. eCollection 2016 Feb.

12.

Determination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease.

Kannenberg F, Nofer JR, Schulte E, Reunert J, Marquardt T, Fobker M.

J Steroid Biochem Mol Biol. 2017 May;169:54-60. doi: 10.1016/j.jsbmb.2016.02.030. Epub 2016 Mar 3.

PMID:
26940355
13.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.

14.

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T.

Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003.

15.

It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.

Zühlsdorf A, Said M, Seger C, Park JH, Reunert J, Rust S, Wada Y, Grüneberg M, DuChesne I, Marquardt T.

Alcohol Alcohol. 2016 Mar;51(2):148-53. doi: 10.1093/alcalc/agv099. Epub 2015 Sep 1.

PMID:
26333807
16.

News on Clinical Details and Treatment in PGM1-CDG.

Schrapers E, Tegtmeyer LC, Simic-Schleicher G, Debus V, Reunert J, Balbach S, Klingel K, Du Chesne I, Seelhöfer A, Fobker M, Marquardt T, Rust S.

JIMD Rep. 2016;26:77-84. doi: 10.1007/8904_2015_471. Epub 2015 Aug 25.

17.

Niemann-Pick type C disease in a 13-year-old boy from Nepal: A genetically confirmed case.

Jain P, Sharma S, Poudel P, Reunert J, Marquardt T, Aneja S.

Neurol India. 2015 Jul-Aug;63(4):626-8. doi: 10.4103/0028-3886.162104. No abstract available.

18.

TMEM165 Deficiency: Postnatal Changes in Glycosylation.

Schulte Althoff S, Grüneberg M, Reunert J, Park JH, Rust S, Mühlhausen C, Wada Y, Santer R, Marquardt T.

JIMD Rep. 2016;26:21-9. doi: 10.1007/8904_2015_455. Epub 2015 Aug 4.

19.

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Park JH, Weissensteiner M, Wagner O, Wada Y, Rust S, Reunert J, Marquardt T.

Pediatr Nephrol. 2016 Aug;31(8):1283-6. doi: 10.1007/s00467-015-3070-1. Epub 2015 May 9. No abstract available.

PMID:
25956699
20.

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.

Park JH, Weissensteiner M, Wagner O, Wada Y, Rust S, Reunert J, Marquardt T.

Pediatr Nephrol. 2016 Aug;31(8):1281. doi: 10.1007/s00467-015-3071-0. Epub 2015 May 7. No abstract available.

PMID:
25947087
21.

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, Kurlemann G, Fiedler B, Biskup S, Hörtnagel K, Rust S, Marquardt T.

J Inherit Metab Dis. 2015 Sep;38(5):931-40. doi: 10.1007/s10545-015-9828-6. Epub 2015 Mar 17.

PMID:
25778940
22.

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T.

JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13.

23.

Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.

Welford RW, Garzotti M, Marques Lourenço C, Mengel E, Marquardt T, Reunert J, Amraoui Y, Kolb SA, Morand O, Groenen P.

PLoS One. 2014 Dec 5;9(12):e114669. doi: 10.1371/journal.pone.0114669. eCollection 2014.

24.

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Zühlsdorf A, Park JH, Wada Y, Rust S, Reunert J, DuChesne I, Grüneberg M, Marquardt T.

Clin Biochem. 2015 Jan;48(1-2):11-3. doi: 10.1016/j.clinbiochem.2014.09.022. Epub 2014 Oct 8.

PMID:
25305627
25.

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Park JH, Zühlsdorf A, Wada Y, Roll C, Rust S, Du Chesne I, Grüneberg M, Reunert J, Marquardt T.

Clin Chim Acta. 2014 Sep 25;436:135-9. doi: 10.1016/j.cca.2014.05.011. Epub 2014 May 26. Erratum in: Clin Chim Acta. 2015 Jul 20;447:115-7.

PMID:
24875750
26.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T.

N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605.

27.

ALG1-CDG: a new case with early fatal outcome.

Rohlfing AK, Rust S, Reunert J, Tirre M, Du Chesne I, Wemhoff S, Meinhardt F, Hartmann H, Das AM, Marquardt T.

Gene. 2014 Jan 25;534(2):345-51. doi: 10.1016/j.gene.2013.10.013. Epub 2013 Oct 21.

PMID:
24157261
28.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA.

Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12.

29.

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Reunert J, Wentzell R, Walter M, Jakubiczka S, Zenker M, Brune T, Rust S, Marquardt T.

Eur J Hum Genet. 2012 Sep;20(9):933-7. doi: 10.1038/ejhg.2012.36. Epub 2012 Mar 14.

30.

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.

Würde AE, Reunert J, Rust S, Hertzberg C, Haverkämper S, Nürnberg G, Nürnberg P, Lehle L, Rossi R, Marquardt T.

Mol Genet Metab. 2012 Apr;105(4):634-41. doi: 10.1016/j.ymgme.2012.01.001. Epub 2012 Jan 9.

PMID:
22304930
31.

Life with too much polyprenol: polyprenol reductase deficiency.

Gründahl JE, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler MG, Siedlecka J, Swiezewska E, Raetz CR, Marquardt T.

Mol Genet Metab. 2012 Apr;105(4):642-51. doi: 10.1016/j.ymgme.2011.12.017. Epub 2011 Dec 29.

32.

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T.

Mol Genet Metab. 2009 Nov;98(3):305-9. doi: 10.1016/j.ymgme.2009.06.010. Epub 2009 Jun 24.

PMID:
19648040

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