Kurlemann G - Search Results

1

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. Dörre K, et al. Among authors: kurlemann g. J Inherit Metab Dis. 2015 Sep;38(5):931-40. doi: 10.1007/s10545-015-9828-6. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778940

2

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. Park JH, et al. Among authors: kurlemann g. Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003. Am J Hum Genet. 2015. PMID: 26637979 Free PMC article.

3

Disturbance of GABA metabolism in pyridoxine-dependent seizures.

Kurlemann G, Ziegler R, Grüneberg M, Bömelburg T, Ullrich K, Palm DG. Kurlemann G, et al. Neuropediatrics. 1992 Oct;23(5):257-9. doi: 10.1055/s-2008-1071353. Neuropediatrics. 1992. PMID: 1454145

4

Add-on treatment with pyridoxine and sulthiame in 12 infants with West syndrome: an open clinical study.

Debus OM, Köhring J, Fiedler B, Franssen M, Kurlemann G. Debus OM, et al. Among authors: kurlemann g. Seizure. 2002 Sep;11(6):381-3. doi: 10.1053/seiz.2001.0667. Seizure. 2002. PMID: 12160666 Free article. Clinical Trial.

5

P50 sensory gating deficit in children with centrotemporal spikes and sharp waves in the EEG.

Fiedler BJ, Debus OM, Neubauer BA, Kienle M, Kurlemann G. Fiedler BJ, et al. Among authors: kurlemann g. Neurosci Lett. 2006 Jan 30;393(2-3):206-10. doi: 10.1016/j.neulet.2005.09.071. Epub 2005 Oct 24. Neurosci Lett. 2006. PMID: 16246492 Clinical Trial.

6

Spontaneous central melatonin secretion and resorption kinetics of exogenous melatonin: a ventricular CSF study.

Debus OM, Lerchl A, Bothe HW, Bremer J, Fiedler B, Franssen M, Koehring J, Steils M, Kurlemann G. Debus OM, et al. Among authors: kurlemann g. J Pineal Res. 2002 Nov;33(4):213-7. doi: 10.1034/j.1600-079x.2002.02907.x. J Pineal Res. 2002. PMID: 12390503

7

Different degrees of white matter abnormalities in untreated phenylketonurics: findings in magnetic resonance imaging.

Weglage J, Schuierer G, Kurlemann G, Bick R, Ullrich K. Weglage J, et al. Among authors: kurlemann g. J Inherit Metab Dis. 1993;16(6):1047-8. doi: 10.1007/BF00711526. J Inherit Metab Dis. 1993. PMID: 8127058 No abstract available.

8

SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.

Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Müller U, Neubauer BA. Ebach K, et al. Among authors: kurlemann g. Neuropediatrics. 2005 Jun;36(3):210-3. doi: 10.1055/s-2005-865607. Neuropediatrics. 2005. PMID: 15944908 Free article.

9

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T. Neubauer BA, et al. Among authors: kurlemann g. Neurology. 2008 Jul 15;71(3):177-83. doi: 10.1212/01.wnl.0000317090.92185.ec. Neurology. 2008. PMID: 18625963

10

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

Neubauer BA, Fiedler B, Himmelein B, Kämpfer F, Lässker U, Schwabe G, Spanier I, Tams D, Bretscher C, Moldenhauer K, Kurlemann G, Weise S, Tedroff K, Eeg-Olofsson O, Wadelius C, Stephani U. Neubauer BA, et al. Among authors: kurlemann g. Neurology. 1998 Dec;51(6):1608-12. doi: 10.1212/wnl.51.6.1608. Neurology. 1998. PMID: 9855510

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