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Items: 1 to 50 of 237

1.

Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants.

Süßmuth K, Metze D, Muresan AM, Lehmberg K, Zur Stadt U, Speckmann C, Park JH, Marquardt T, Oji V, Goerge T.

Acta Derm Venereol. 2019 Sep 25. doi: 10.2340/00015555-3324. [Epub ahead of print] No abstract available.

2.

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
3.

Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD.

Fischer T, Elpers C, Och U, Fobker M, Marquardt T.

Mol Genet Metab Rep. 2019 Jun 28;20:100491. doi: 10.1016/j.ymgmr.2019.100491. eCollection 2019 Sep.

4.

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
5.

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
6.

Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.

Maekawa M, Narita A, Jinnoh I, Iida T, Marquardt T, Mengel E, Eto Y, Clayton PT, Yamaguchi H, Mano N.

Clin Chim Acta. 2019 Jul;494:58-63. doi: 10.1016/j.cca.2019.03.1610. Epub 2019 Mar 12.

PMID:
30876856
7.

Pro-cognitive effect of a prebiotic in psychosis: A double blind placebo controlled cross-over study.

Kao AC, Safarikova J, Marquardt T, Mullins B, Lennox BR, Burnet PWJ.

Schizophr Res. 2019 Jun;208:460-461. doi: 10.1016/j.schres.2019.03.003. Epub 2019 Mar 12. No abstract available.

PMID:
30876680
8.

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
9.

Demonstration of the diagnostic agreement of capillary and venous blood samples, using hepatitis-C virus SD Bioline© rapid test: A clinic-based study.

Sun C, Iwamoto M, Calzia A, Sreng B, Yann S, Pin S, Lastrucci C, Kimchamroeun S, Dimanche C, Dousset JP, Le Paih M, Balkan S, Marquardt T, Carnimeo V, Lissouba P, Maman D, Loarec A.

J Clin Virol. 2019 Feb;111:39-41. doi: 10.1016/j.jcv.2018.12.008. Epub 2018 Dec 31.

10.

Disorders of Emotional Communication in Traumatic Brain Injury.

Wauters L, Marquardt TP.

Semin Speech Lang. 2019 Feb;40(1):13-26. doi: 10.1055/s-0038-1676364. Epub 2019 Jan 7.

PMID:
30616291
11.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.

Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3.

12.

Substitution of mitoxantrone for doxorubicin in a multidrug chemotherapeutic protocol for first-line treatment of dogs with multicentric intermediate- to large-cell lymphoma.

Marquardt TM, Lindley SES, Smith AN, Cannon CM, Rodriguez CO Jr, Thamm DH, Childress MO, Northrup NC.

J Am Vet Med Assoc. 2019 Jan 15;254(2):236-242. doi: 10.2460/javma.254.2.236.

PMID:
30605381
13.

Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.

Fischer T, Och U, Marquardt T.

Nutrition. 2019 Apr;60:122-128. doi: 10.1016/j.nut.2018.10.014. Epub 2018 Oct 22.

PMID:
30557775
14.

Use of fetal fibronectin testing in women transferred for threatened preterm labour in remote far north Queensland.

Downing SG, Wright R, Marquardt T, Callander E.

Aust N Z J Obstet Gynaecol. 2019 Jun;59(3):403-407. doi: 10.1111/ajo.12878. Epub 2018 Sep 3.

PMID:
30175874
15.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MØrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ.

Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10.

16.

Audio-tactile cues from an object's fall change estimates of one's body height.

Tajadura-Jiménez A, Deroy O, Marquardt T, Bianchi-Berthouze N, Asai T, Kimura T, Kitagawa N.

PLoS One. 2018 Jun 27;13(6):e0199354. doi: 10.1371/journal.pone.0199354. eCollection 2018.

17.

Effect of a Sodium and Calcium DL-β-Hydroxybutyrate Salt in Healthy Adults.

Fischer T, Och U, Klawon I, Och T, Grüneberg M, Fobker M, Bordewick-Dell U, Marquardt T.

J Nutr Metab. 2018 Apr 12;2018:9812806. doi: 10.1155/2018/9812806. eCollection 2018.

18.

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S.

Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30.

PMID:
29665094
19.

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
20.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.

21.

A framework for testing and comparing binaural models.

Dietz M, Lestang JH, Majdak P, Stern RM, Marquardt T, Ewert SD, Hartmann WM, Goodman DFM.

Hear Res. 2018 Mar;360:92-106. doi: 10.1016/j.heares.2017.11.010. Epub 2017 Nov 28. Review.

22.

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.

23.

A common periodic representation of interaural time differences in mammalian cortex.

Salminen NH, Jones SJ, Christianson GB, Marquardt T, McAlpine D.

Neuroimage. 2018 Feb 15;167:95-103. doi: 10.1016/j.neuroimage.2017.11.012. Epub 2017 Nov 7.

24.

Category, Letter, and Emotional Verbal Fluency in Spanish-English Bilingual Speakers: A Preliminary Report.

Wauters L, Marquardt TP.

Arch Clin Neuropsychol. 2018 Jun 1;33(4):444-457. doi: 10.1093/arclin/acx063.

PMID:
28961685
25.

A vital sugar code for ricin toxicity.

Taubenschmid J, Stadlmann J, Jost M, Klokk TI, Rillahan CD, Leibbrandt A, Mechtler K, Paulson JC, Jude J, Zuber J, Sandvig K, Elling U, Marquardt T, Thiel C, Koerner C, Penninger JM.

Cell Res. 2017 Nov;27(11):1351-1364. doi: 10.1038/cr.2017.116. Epub 2017 Sep 19.

26.

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans CD, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-Mann I, Schöls L, Synofzik M.

J Med Genet. 2018 Jan;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622. Epub 2017 Sep 15.

PMID:
28916646
27.

Effects of Carpal Tunnel Syndrome on Force Coordination and Muscle Coherence during Precision Pinch.

Lu SC, Xiu K, Li K, Marquardt TL, Evans PJ, Li ZM.

J Med Biol Eng. 2017 Jun;37(3):328-335. doi: 10.1007/s40846-017-0232-6. Epub 2017 Mar 24.

28.

Thickness and Stiffness Adaptations of the Transverse Carpal Ligament Associated with Carpal Tunnel Syndrome.

Marquardt TL, Gabra JN, Evans PJ, Seitz WH Jr, Li ZM.

J Musculoskelet Res. 2016 Dec;19(4). pii: 1650019. doi: 10.1142/S0218957716500196. Epub 2017 Feb 20.

29.

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.

30.

What Is Your Neurologic Diagnosis?

Shutt L, Marquardt TM, Cline KA, Taylor AR.

J Am Vet Med Assoc. 2017 Aug 15;251(4):395-398. doi: 10.2460/javma.251.4.395. No abstract available.

PMID:
28763272
31.

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
32.

Influence of envelope waveform on ITD sensitivity of neurons in the auditory midbrain.

Greenberg D, Monaghan JJM, Dietz M, Marquardt T, McAlpine D.

J Neurophysiol. 2017 Oct 1;118(4):2358-2370. doi: 10.1152/jn.01048.2015. Epub 2017 Jul 12.

33.

Carpal tunnel syndrome impairs index finger responses to unpredictable perturbations.

Grandy EL, Xiu K, Marquardt TL, Li C, Evans PJ, Li ZM.

J Electromyogr Kinesiol. 2018 Feb;38:197-202. doi: 10.1016/j.jelekin.2017.03.001. Epub 2017 Mar 16.

34.

Manganese-induced turnover of TMEM165.

Potelle S, Dulary E, Climer L, Duvet S, Morelle W, Vicogne D, Lebredonchel E, Houdou M, Spriet C, Krzewinski-Recchi MA, Peanne R, Klein A, de Bettignies G, Morsomme P, Matthijs G, Marquardt T, Lupashin V, Foulquier F.

Biochem J. 2017 Apr 19;474(9):1481-1493. doi: 10.1042/BCJ20160910.

35.

Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib.

Letkemann R, Wittkowski H, Antonopoulos A, Podskabi T, Haslam SM, Föll D, Dell A, Marquardt T.

Int Immunopharmacol. 2017 Mar;44:216-225. doi: 10.1016/j.intimp.2017.01.020. Epub 2017 Jan 23.

36.

Quantification of muscle pathology in infantile Pompe disease.

Schänzer A, Kaiser AK, Mühlfeld C, Kulessa M, Paulus W, von Pein H, Rohrbach M, Viergutz L, Mengel E, Marquardt T, Neubauer B, Acker T, Hahn A.

Neuromuscul Disord. 2017 Feb;27(2):141-152. doi: 10.1016/j.nmd.2016.10.010. Epub 2016 Nov 3.

PMID:
27927596
37.

The effect of the helicotrema on low-frequency loudness perception.

Jurado C, Marquardt T.

J Acoust Soc Am. 2016 Nov;140(5):3799.

PMID:
27908034
38.

Corrigendum: Action Sounds Modulate Arm Reaching Movements.

Tajadura-Jiménez A, Marquardt T, Swapp D, Kitagawa N, Bianchi-Berthouze N.

Front Psychol. 2016 Nov 28;7:1878. eCollection 2016.

39.

Action Sounds Modulate Arm Reaching Movements.

Tajadura-Jiménez A, Marquardt T, Swapp D, Kitagawa N, Bianchi-Berthouze N.

Front Psychol. 2016 Sep 16;7:1391. eCollection 2016. Erratum in: Front Psychol. 2016 Nov 28;7:1878.

40.

Neural Representation of Interaural Time Differences in Humans-an Objective Measure that Matches Behavioural Performance.

Undurraga JA, Haywood NR, Marquardt T, McAlpine D.

J Assoc Res Otolaryngol. 2016 Dec;17(6):591-607. Epub 2016 Sep 14.

41.

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
42.

Loss of FBXO7 (PARK15) results in reduced proteasome activity and models a parkinsonism-like phenotype in mice.

Vingill S, Brockelt D, Lancelin C, Tatenhorst L, Dontcheva G, Preisinger C, Schwedhelm-Domeyer N, Joseph S, Mitkovski M, Goebbels S, Nave KA, Schulz JB, Marquardt T, Lingor P, Stegmüller J.

EMBO J. 2016 Sep 15;35(18):2008-25. doi: 10.15252/embj.201593585. Epub 2016 Aug 5.

43.

Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV).

Schänzer A, Faas D, Rust S, Podskarbi T, van Kuilenburg AB, Scarpa M, Kunze A, Marquardt T, Hahn A.

Klin Padiatr. 2016 Sep;228(5):277-9. doi: 10.1055/s-0042-109399. Epub 2016 Jul 21. No abstract available.

PMID:
27442143
44.

In vivo tissue interaction between the transverse carpal ligament and finger flexor tendons.

Gabra JN, Gordon JL, Marquardt TL, Li ZM.

Med Eng Phys. 2016 Oct;38(10):1055-62. doi: 10.1016/j.medengphy.2016.06.023. Epub 2016 Jul 9.

45.

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA.

Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Review.

46.

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E.

J Pediatr. 2016 Aug;175:130-136.e8. doi: 10.1016/j.jpeds.2016.04.021. Epub 2016 May 17.

PMID:
27206562
47.

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.

48.

Objective Measures of Neural Processing of Interaural Time Differences.

McAlpine D, Haywood N, Undurraga J, Marquardt T.

Adv Exp Med Biol. 2016;894:197-205. doi: 10.1007/978-3-319-25474-6_21.

PMID:
27080660
49.

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.

50.

Adaptation of the Transverse Carpal Ligament Associated with Repetitive Hand Use in Pianists.

Mhanna C, Marquardt TL, Li ZM.

PLoS One. 2016 Mar 8;11(3):e0150174. doi: 10.1371/journal.pone.0150174. eCollection 2016.

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