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Items: 1 to 20 of 65

1.

TYROSINEMIA TYPE II: Mutation update, eleven novel mutations and description of five independent subjects with a novel founder mutation.

Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, 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 Mar 3. doi: 10.1111/cge.13003. [Epub ahead of print]

PMID:
28255985
2.

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.

3.

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
4.

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.

PMID:
26176914
5.

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].

6.

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
7.

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.

8.

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.

9.

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
10.

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.

11.

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.

12.

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
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.

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.

15.

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
16.

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.

17.

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
18.

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.

19.

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
20.

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

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