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Items: 1 to 50 of 73

1.

Association of Obesity With Multiple Sclerosis Risk and Response to First-line Disease Modifying Drugs in Children.

Huppke B, Ellenberger D, Hummel H, Stark W, Röbl M, Gärtner J, Huppke P.

JAMA Neurol. 2019 Jul 15. doi: 10.1001/jamaneurol.2019.1997. [Epub ahead of print]

PMID:
31305922
2.

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.

Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP.

Exp Neurol. 2019 May 24;320:112958. doi: 10.1016/j.expneurol.2019.112958. [Epub ahead of print]

PMID:
31132363
3.

A synaptic protein defect associated with reflex seizure disorder.

Striano P, Huppke P.

Neurology. 2019 Jan 8;92(2):63-64. doi: 10.1212/WNL.0000000000006720. Epub 2018 Dec 12. No abstract available.

PMID:
30541867
4.

[Multiple sclerosis in childhood and adolescence : Complex, chronic and differentiated].

Blaschek A, Huppke P, Kümpfel T, Müller-Felber W, Rostasy K.

Nervenarzt. 2017 Dec;88(12):1377-1384. doi: 10.1007/s00115-017-0422-z. Review. German.

PMID:
29038883
5.

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.

Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F, Begtrup A, Almusafri F, Thiele H, Altmüller J, Nürnberg P, Müller M, Gärtner J.

Nat Commun. 2017 Oct 10;8(1):818. doi: 10.1038/s41467-017-00932-7.

6.

Therapy of highly active pediatric multiple sclerosis.

Huppke P, Huppke B, Ellenberger D, Rostasy K, Hummel H, Stark W, Brück W, Gärtner J.

Mult Scler. 2019 Jan;25(1):72-80. doi: 10.1177/1352458517732843. Epub 2017 Sep 21.

PMID:
28933245
7.

MOG Antibodies in Pediatric Neurology.

Huppke P.

Neuropediatrics. 2018 Feb;49(1):1-2. doi: 10.1055/s-0037-1606545. Epub 2017 Sep 15. No abstract available.

PMID:
28915516
8.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A.

Clin Genet. 2017 Sep;92(3):306-317. doi: 10.1111/cge.13003. Epub 2017 May 18.

PMID:
28255985
9.

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.

Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gärtner J, Huppke P.

BMC Neurol. 2016 May 21;16:74. doi: 10.1186/s12883-016-0602-7. Review.

10.

Age-Dependent Seroprevalence of JCV Antibody in Children.

Hennes EM, Kornek B, Huppke P, Reindl M, Rostasy K, Berger T.

Neuropediatrics. 2016 Apr;47(2):112-4. doi: 10.1055/s-0035-1565272. Epub 2015 Oct 19.

PMID:
26479766
11.

Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.

Wang J, Wegener JE, Huang TW, Sripathy S, De Jesus-Cortes H, Xu P, Tran S, Knobbe W, Leko V, Britt J, Starwalt R, McDaniel L, Ward CS, Parra D, Newcomb B, Lao U, Nourigat C, Flowers DA, Cullen S, Jorstad NL, Yang Y, Glaskova L, Vigneau S, Kozlitina J, Yetman MJ, Jankowsky JL, Reichardt SD, Reichardt HM, Gärtner J, Bartolomei MS, Fang M, Loeb K, Keene CD, Bernstein I, Goodell M, Brat DJ, Huppke P, Neul JL, Bedalov A, Pieper AA.

Nature. 2015 Sep 24;525(7570):552. doi: 10.1038/nature14671. Epub 2015 Jul 15. No abstract available.

12.

Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.

Wang J, Wegener JE, Huang TW, Sripathy S, De Jesus-Cortes H, Xu P, Tran S, Knobbe W, Leko V, Britt J, Starwalt R, McDaniel L, Ward CS, Parra D, Newcomb B, Lao U, Nourigat C, Flowers DA, Cullen S, Jorstad NL, Yang Y, Glaskova L, Vingeau S, Kozlitina J, Yetman MJ, Jankowsky JL, Reichardt SD, Reichardt HM, Gärtner J, Bartolomei MS, Fang M, Loeb K, Keene CD, Bernstein I, Goodell M, Brat DJ, Huppke P, Neul JL, Bedalov A, Pieper AA.

Nature. 2015 May 21;521(7552):E1-4. doi: 10.1038/nature14444. No abstract available. Erratum in: Nature. 2015 Sep 24;525(7570):552. Vigneau, Sebastian [Corrected to Vingeau, Sébastien].

13.

Apheresis in treatment of acute inflammatory demyelinating disorders.

Mühlhausen J, Kitze B, Huppke P, Müller GA, Koziolek MJ.

Atheroscler Suppl. 2015 May;18:251-6. doi: 10.1016/j.atherosclerosissup.2015.02.037. Review.

PMID:
25936333
14.

MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis.

Weygandt M, Hummel HM, Schregel K, Ritter K, Allefeld C, Dommes E, Huppke P, Haynes JD, Wuerfel J, Gärtner J.

Neuroimage Clin. 2014 Jul 11;7:400-8. doi: 10.1016/j.nicl.2014.06.015. eCollection 2015.

15.

Extensive acute axonal damage in pediatric multiple sclerosis lesions.

Pfeifenbring S, Bunyan RF, Metz I, Röver C, Huppke P, Gärtner J, Lucchinetti CF, Brück W.

Ann Neurol. 2015 Apr;77(4):655-67. doi: 10.1002/ana.24364. Epub 2015 Feb 26.

16.

From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.

Kettwig M, Schubach M, Zimmermann FA, Klinge L, Mayr JA, Biskup S, Sperl W, Gärtner J, Huppke P.

Mitochondrion. 2015 Mar;21:12-8. doi: 10.1016/j.mito.2015.01.001. Epub 2015 Jan 10. Review.

PMID:
25583628
17.

Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.

Wegener E, Brendel C, Fischer A, Hülsmann S, Gärtner J, Huppke P.

PLoS One. 2014 Dec 26;9(12):e115444. doi: 10.1371/journal.pone.0115444. eCollection 2014.

18.

Failure of Pallidal Deep Brain Stimulation in a Case of Rapid-Onset Dystonia Parkinsonism (DYT12).

Brücke C, Horn A, Huppke P, Kupsch A, Schneider GH, Kühn AA.

Mov Disord Clin Pract. 2014 Dec 30;2(1):76-78. doi: 10.1002/mdc3.12124. eCollection 2015 Mar. No abstract available.

19.

Tectonic gene mutations in patients with Joubert syndrome.

Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C.

Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13. Review.

20.

JC virus antibody status in a pediatric multiple sclerosis cohort: prevalence, conversion rate and influence on disease severity.

Huppke P, Hummel H, Ellenberger D, Pfeifenbring S, Stark W, Huppke B, Brück W, Gärtner J.

Mult Scler. 2015 Apr;21(4):382-7. doi: 10.1177/1352458514543340. Epub 2014 Jul 28.

PMID:
25070674
21.

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
22.

Chemokine-mediated redirection of T cells constitutes a critical mechanism of glucocorticoid therapy in autoimmune CNS responses.

Schweingruber N, Fischer HJ, Fischer L, van den Brandt J, Karabinskaya A, Labi V, Villunger A, Kretzschmar B, Huppke P, Simons M, Tuckermann JP, Flügel A, Lühder F, Reichardt HM.

Acta Neuropathol. 2014 May;127(5):713-29. doi: 10.1007/s00401-014-1248-4. Epub 2014 Feb 1.

23.

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
24.

Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome.

Distelmaier F, Huppke P, Pieperhoff P, Amunts K, Schaper J, Morava E, Mayatepek E, Kohlhase J, Karenfort M.

JIMD Rep. 2014;13:53-7. doi: 10.1007/8904_2013_271. Epub 2013 Oct 29.

25.

Therapeutic apheresis in pediatric patients with acute CNS inflammatory demyelinating disease.

Koziolek M, Mühlhausen J, Friede T, Ellenberger D, Sigler M, Huppke B, Gärtner J, Müller GA, Huppke P.

Blood Purif. 2013;36(2):92-7. doi: 10.1159/000354077. Epub 2013 Sep 7.

PMID:
24021839
26.

Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels.

Brendel C, Mielke B, Hillebrand M, Gärtner J, Huppke P.

J Neurodev Disord. 2013 Sep 10;5(1):23. doi: 10.1186/1866-1955-5-23.

27.

T-cell homeostasis in pediatric multiple sclerosis: old cells in young patients.

Balint B, Haas J, Schwarz A, Jarius S, Fürwentsches A, Engelhardt K, Bussmann C, Ebinger F, Fritzsching B, Paul F, Seidel U, Vlaho S, Huppke P, Gärtner J, Wildemann B.

Neurology. 2013 Aug 27;81(9):784-92. doi: 10.1212/WNL.0b013e3182a2ce0e. Epub 2013 Aug 2.

PMID:
23911752
28.

Acute disseminated encephalomyelitis followed by recurrent or monophasic optic neuritis in pediatric patients.

Huppke P, Rostasy K, Karenfort M, Huppke B, Seidl R, Leiz S, Reindl M, Gärtner J.

Mult Scler. 2013 Jun;19(7):941-6. doi: 10.1177/1352458512466317. Epub 2012 Nov 5.

PMID:
23128668
29.

Long-term outcome of children with acute cerebellitis.

Hennes E, Zotter S, Dorninger L, Hartmann H, Häusler M, Huppke P, Jacobs J, Kraus V, Makowski C, Schlachter K, Ulmer H, van Baalen A, Koch J, Gotwald T, Rostasy K.

Neuropediatrics. 2012 Oct;43(5):240-8. doi: 10.1055/s-0032-1324732. Epub 2012 Aug 30.

PMID:
22936351
30.

Periventricular heterotopia: identifying homogeneity among heterogeneity.

Pandolfo M, Depondt C, Huppke P.

Neurology. 2012 Sep 18;79(12):1192-3. doi: 10.1212/WNL.0b013e31826aad7d. Epub 2012 Aug 22. No abstract available.

PMID:
22914843
31.

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Huppke P, Brendel C, Korenke GC, Marquardt I, Donsante A, Yi L, Hicks JD, Steinbach PJ, Wilson C, Elpeleg O, Møller LB, Christodoulou J, Kaler SG, Gärtner J.

Hum Mutat. 2012 Aug;33(8):1207-15. doi: 10.1002/humu.22099. Epub 2012 May 16.

32.

Anti-myelin oligodendrocyte glycoprotein antibodies in pediatric patients with optic neuritis.

Rostasy K, Mader S, Schanda K, Huppke P, Gärtner J, Kraus V, Karenfort M, Tibussek D, Blaschek A, Bajer-Kornek B, Leitz S, Schimmel M, Di Pauli F, Berger T, Reindl M.

Arch Neurol. 2012 Jun;69(6):752-6. doi: 10.1001/archneurol.2011.2956.

PMID:
22371853
33.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J.

Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Erratum in: Am J Hum Genet. 2012 Feb 10;90(2):378.

34.

Diagnosis of copper transport disorders.

Møller LB, Hicks JD, Holmes CS, Goldstein DS, Brendl C, Huppke P, Kaler SG.

Curr Protoc Hum Genet. 2011 Jul;Chapter 17:Unit17.9. doi: 10.1002/0471142905.hg1709s70.

35.

Rett syndrome: revised diagnostic criteria and nomenclature.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium.

Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.

36.

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model.

Brendel C, Belakhov V, Werner H, Wegener E, Gärtner J, Nudelman I, Baasov T, Huppke P.

J Mol Med (Berl). 2011 Apr;89(4):389-98. doi: 10.1007/s00109-010-0704-4. Epub 2010 Dec 1. Erratum in: J Mol Med (Berl). 2013 Jun;91(6):775.

37.

A practical guide to pediatric multiple sclerosis.

Huppke P, Gärtner J.

Neuropediatrics. 2010 Aug;41(4):157-62. doi: 10.1055/s-0030-1267155. Epub 2010 Nov 17. Review.

PMID:
21086219
38.

Neuromyelitis optica and NMO-IgG in European pediatric patients.

Huppke P, Blüthner M, Bauer O, Stark W, Reinhardt K, Huppke B, Gärtner J.

Neurology. 2010 Nov 9;75(19):1740-4. doi: 10.1212/WNL.0b013e3181fc2823.

PMID:
21060098
39.

Immunoglobulin therapy in idiopathic hypothalamic dysfunction.

Huppke P, Heise A, Rostasy K, Huppke B, Gärtner J.

Pediatr Neurol. 2009 Sep;41(3):232-4. doi: 10.1016/j.pediatrneurol.2009.03.017.

PMID:
19664546
40.

Paediatric multiple sclerosis: the experience of the German Centre for Multiple Sclerosis in Childhood and Adolescence.

Stark W, Huppke P, Gärtner J.

J Neurol. 2008 Dec;255 Suppl 6:119-22. doi: 10.1007/s00415-008-6022-x.

PMID:
19300972
41.

Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics.

Brendel C, Klahold E, Gärtner J, Huppke P.

Pediatr Res. 2009 May;65(5):520-3. doi: 10.1203/PDR.0b013e31819d9ebc.

PMID:
19190538
42.

Natalizumab use in pediatric multiple sclerosis.

Huppke P, Stark W, Zürcher C, Huppke B, Brück W, Gärtner J.

Arch Neurol. 2008 Dec;65(12):1655-8. doi: 10.1001/archneur.65.12.1655.

PMID:
19064754
43.

Broadened and elevated humoral immune response to EBNA1 in pediatric multiple sclerosis.

Lünemann JD, Huppke P, Roberts S, Brück W, Gärtner J, Münz C.

Neurology. 2008 Sep 23;71(13):1033-5. doi: 10.1212/01.wnl.0000326576.91097.87. No abstract available.

44.

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

Zirn B, Grundmann K, Huppke P, Puthenparampil J, Wolburg H, Riess O, Müller U.

J Neurol Neurosurg Psychiatry. 2008 Dec;79(12):1327-30. doi: 10.1136/jnnp.2008.148270. Epub 2008 May 13.

PMID:
18477710
45.

Disturbances of breathing in Rett syndrome: results from patients and animal models.

Stettner GM, Huppke P, Gärtner J, Richter DW, Dutschmann M.

Adv Exp Med Biol. 2008;605:503-7. No abstract available.

PMID:
18085325
46.

Spontaneous central apneas occur in the C57BL/6J mouse strain.

Stettner GM, Zanella S, Huppke P, Gärtner J, Hilaire G, Dutschmann M.

Respir Physiol Neurobiol. 2008 Jan 1;160(1):21-7. Epub 2007 Aug 6.

PMID:
17869191
47.

Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice.

Stettner GM, Huppke P, Brendel C, Richter DW, Gärtner J, Dutschmann M.

J Physiol. 2007 Mar 15;579(Pt 3):863-76. Epub 2007 Jan 4.

48.

Treatment of epilepsy in Rett syndrome.

Huppke P, Köhler K, Brockmann K, Stettner GM, Gärtner J.

Eur J Paediatr Neurol. 2007 Jan;11(1):10-6. Epub 2006 Dec 18.

PMID:
17178248
49.

Very mild cases of Rett syndrome with skewed X inactivation.

Huppke P, Maier EM, Warnke A, Brendel C, Laccone F, Gärtner J.

J Med Genet. 2006 Oct;43(10):814-6. Epub 2006 May 11.

50.

Molecular diagnosis of Rett syndrome.

Huppke P, Gärtner J.

J Child Neurol. 2005 Sep;20(9):732-6. Review.

PMID:
16225827

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