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Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature.
Published in:
European Journal of Pediatrics, 2004, v. 163, n. 4/5, p. 196
By:
- Hunneman, Donald H.;
- Eber, Stefan;
- Hanefeld, Folker;
- Korenke, G. Christoph
Publication type:
Article
Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature.
Published in:
2004
By:
- Korenke, G Christoph;
- Hunneman, Donald H;
- Eber, Stefan;
- Hanefeld, Folker
Publication type:
journal article
Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy.
Published in:
European Journal of Pediatrics, 2003, v. 162, n. 1, p. 6, doi. 10.1007/s00431-002-1097-3
By:
- Baumann, Matthias;
- Korenke, Christoph G.;
- Weddige-Diedrichs, Almuth;
- Wilichowski, Ekkehard;
- Hunneman, Donald H.;
- Wilken, Bernd;
- Brockmann, Knut;
- Klingebiel, Thomas;
- Niethammer, Dietrich;
- Kühl, Jörn;
- Ebell, Wolfram;
- Hanefeld, Folker
Publication type:
Article
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Published in:
European Journal of Endocrinology, 1997, v. 137, n. 1, p. 40, doi. 10.1530/eje.0.1370040
By:
- Korenke, G. Christoph;
- Roth, Christian;
- Krasemann, Ernst;
- Hüfner, Michael;
- Hunneman, Donald H.;
- Hanefeld, Folker
Publication type:
Article
EEG Features of Glut-1 Deficiency Syndrome.
Published in:
Epilepsia (Series 4), 2002, v. 43, n. 8, p. 941, doi. 10.1046/j.1528-1157.2002.50401.x
By:
- von Moers, Arpad;
- Brockmann, Knut;
- Wang, Dong;
- Korenke, Christoph G.;
- Huppke, Peter;
- De Vivo, Darryl C.;
- Hanefeld, Folker
Publication type:
Article
Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2824, doi. 10.3390/ijms22062824
By:
- Döring, Jan H.;
- Schröter, Julian;
- Jüngling, Jerome;
- Biskup, Saskia;
- Klotz, Kerstin A.;
- Bast, Thomas;
- Dietel, Tobias;
- Korenke, G. Christoph;
- Christoph, Sophie;
- Brennenstuhl, Heiko;
- Rubboli, Guido;
- Møller, Rikke S.;
- Lesca, Gaetan;
- Chaix, Yves;
- Kölker, Stefan;
- Hoffmann, Georg F.;
- Lemke, Johannes R.;
- Syrbe, Steffen;
- Imbrici, Paola
Publication type:
Article
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Published in:
Nature Genetics, 2013, v. 45, n. 11, p. 1399, doi. 10.1038/ng.2767
By:
- Leipold, Enrico;
- Liebmann, Lutz;
- Korenke, G Christoph;
- Heinrich, Theresa;
- Gießelmann, Sebastian;
- Baets, Jonathan;
- Ebbinghaus, Matthias;
- Goral, R Oliver;
- Stödberg, Tommy;
- Hennings, J Christopher;
- Bergmann, Markus;
- Altmüller, Janine;
- Thiele, Holger;
- Wetzel, Andrea;
- Nürnberg, Peter;
- Timmerman, Vincent;
- De Jonghe, Peter;
- Blum, Robert;
- Schaible, Hans-Georg;
- Weis, Joachim
Publication type:
Article
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 48, doi. 10.1002/jmd2.12074
By:
- Schlotawa, Lars;
- Dierks, Thomas;
- Christoph, Sophie;
- Cloppenburg, Eva;
- Ohlenbusch, Andreas;
- Korenke, G. Christoph;
- Gärtner, Jutta
Publication type:
Article
‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1146, doi. 10.1093/brain/awt021
By:
- Boissé Lomax, Lysa;
- Bayly, Marta A.;
- Hjalgrim, Helle;
- Møller, Rikke S.;
- Vlaar, Annemarie M.;
- Aaberg, Kari M.;
- Marquardt, Iris;
- Gandolfo, Luke C.;
- Willemsen, Michèl;
- Kamsteeg, Erik-Jan;
- O’Sullivan, John D.;
- Korenke, G. Christoph;
- Bloem, Bastiaan R.;
- de Coo, Irenaeus F.;
- Verhagen, Judith M. A.;
- Said, Ines;
- Prescott, Trine;
- Stray-Pedersen, Asbjørg;
- Rasmussen, Magnhild;
- Vears, Danya F.
Publication type:
Article
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Published in:
2019
By:
- Karsai, Gergely;
- Kraft, Florian;
- Haag, Natja;
- Korenke, G. Christoph;
- Hänisch, Benjamin;
- Othman, Alaa;
- Suriyanarayanan, Saranya;
- Steiner, Regula;
- Knopp, Cordula;
- Mull, Michael;
- Bergmann, Markus;
- Schröder, J. Michael;
- Weis, Joachim;
- Elbracht, Miriam;
- Begemann, Matthias;
- Hornemann, Thorsten;
- Kurth, Ingo
Publication type:
journal article
Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency.
Published in:
Annals of Neurology, 2002, v. 52, n. 1, p. 38, doi. 10.1002/ana.10232
By:
- Brockmann, Knut;
- Bjornstad, Alf;
- Dechent, Peter;
- Korenke, Christoph G.;
- Smeitink, Jan;
- Trijbels, J. M. Frans;
- Athanassopoulos, Sabine;
- Villagran, Rafael;
- Skjeldal, Ola H.;
- Wilichowski, Ekkehard;
- Frahm, Jens;
- Hanefeld, Folker
Publication type:
Article
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
Published in:
2001
By:
- Brockmann, Knut;
- Wang, Dong;
- Korenke, Christoph G.;
- Von Moers, Arpad;
- Ho, Yuan-Yuan;
- Pascual, Juan M.;
- Kuang, Kunyan;
- Yang, Hong;
- Ma, Li;
- Kranz-Eble, Pamela;
- Fischbarg, Jorge;
- Hanefeld, Folker;
- De Vivo, Darryl C.;
- Brockmann, K;
- Wang, D;
- Korenke, C G;
- von Moers, A;
- Ho, Y Y;
- Pascual, J M;
- Kuang, K
Publication type:
journal article
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 21, doi. 10.1002/mgg3.256
By:
- Rath, Matthias;
- Spiegler, Stefanie;
- Nath, Neetika;
- Schwefel, Konrad;
- Di Donato, Nataliya;
- Gerber, Johannes;
- Korenke, G. Christoph;
- Hellenbroich, Yorck;
- Hehr, Ute;
- Gross, Stephanie;
- Sure, Ulrich;
- Zoll, Barbara;
- Gilberg, Eberhard;
- Kaderali, Lars;
- Felbor, Ute
Publication type:
Article
Inthrathecal IgA Synthesis in X-Linked Cerebral Adrenoleukodystrophy.
Published in:
Journal of Child Neurology, 1997, v. 12, n. 5, p. 314
By:
- Korenke, G. Christoph;
- Reiber, Hansotto;
- Hunneman, Donald H.;
- Hanefeld, Folker
Publication type:
Article
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
Published in:
PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004267
By:
- Arjona, Francisco J.;
- de Baaij, Jeroen H. F.;
- Schlingmann, Karl P.;
- Lameris, Anke L. L.;
- van Wijk, Erwin;
- Flik, Gert;
- Regele, Sabrina;
- Korenke, G. Christoph;
- Neophytou, Birgit;
- Rust, Stephan;
- Reintjes, Nadine;
- Konrad, Martin;
- Bindels, René J. M.;
- Hoenderop, Joost G. J.
Publication type:
Article
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Published in:
Science Translational Medicine, 2022, v. 14, n. 634, p. 1, doi. 10.1126/scitranslmed.abm4869
By:
- Byrne, Alicia B.;
- Brouillard, Pascal;
- Sutton, Drew L.;
- Kazenwadel, Jan;
- Montazaribarforoushi, Saba;
- Secker, Genevieve A.;
- Oszmiana, Anna;
- Babic, Milena;
- Betterman, Kelly L.;
- Brautigan, Peter J.;
- White, Melissa;
- Piltz, Sandra G.;
- Thomas, Paul Q.;
- Hahn, Christopher N.;
- Rath, Matthias;
- Felbor, Ute;
- Korenke, G. Christoph;
- Smith, Christopher L.;
- Wood, Kathleen H.;
- Sheppard, Sarah E.
Publication type:
Article
The Expanding Phenotypical Spectrum of WARS2 -Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Published in:
Genes, 2023, v. 14, n. 4, p. 822, doi. 10.3390/genes14040822
By:
- Pauly, Martje G.;
- Korenke, G. Christoph;
- Diaw, Sokhna Haissatou;
- Grözinger, Anne;
- Cazurro-Gutiérrez, Ana;
- Pérez-Dueñas, Belén;
- González, Victoria;
- Macaya, Alfons;
- Serrano Antón, Ana Teresa;
- Peterlin, Borut;
- Božović, Ivana Babić;
- Maver, Aleš;
- Münchau, Alexander;
- Lohmann, Katja
Publication type:
Article
Identical mitochondrial DNA in monozygotic twins with discordant adrenoleukodystrophy phenotype.
Published in:
1998
By:
- Wilichowski, Ekkehard;
- Ohlenbusch, Andreas;
- Korenke, G. Christoph;
- Hunneman, Donald H.;
- Hanefeld, Folker;
- Wilichowski, E;
- Ohlenbusch, A;
- Korenke, G C;
- Hunneman, D H;
- Hanefeld, F
Publication type:
Case Study
Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.
Published in:
Annals of Neurology, 1996, v. 40, n. 2, p. 254, doi. 10.1002/ana.410400221
By:
- Korenke, G. Christoph;
- Wilichowski, Ekkehard;
- Hunneman, Donald H.;
- Hanefeld, Folker;
- Fuchs, Sigrid;
- Krasemann, Ernst;
- Doerr, Helmuth G.
Publication type:
Article
First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
Published in:
Human Mutation, 1998, v. 11, p. S204, doi. 10.1002/humu.1380110166
By:
- Korenke, G. Christoph;
- Krasemann, Ernst;
- Meier, Volker;
- Beuche, Wolfgang;
- Hunneman, D.H.;
- Hanefeld, F.
Publication type:
Article
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.
Published in:
Molecular Syndromology, 2016, v. 7, n. 3, p. 144, doi. 10.1159/000446884
By:
- Spiegler, Stefanie;
- Kirchmaier, Bettina;
- Rath, Matthias;
- Korenke, G. Christoph;
- Tetzlaff, Fabian;
- van de Vorst, Maartje;
- Neveling, Kornelia;
- Acker-Palmer, Amparo;
- Kuss, Andreas W.;
- Gilissen, Christian;
- Fischer, Andreas;
- Schulte-Merker, Stefan;
- Felbor, Ute
Publication type:
Article

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