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Co-occurring malformations of cortical development and SCN1A gene mutations.
Published in:
Epilepsia (Series 4), 2014, v. 55, n. 7, p. 1009, doi. 10.1111/epi.12658
By:
- Barba, Carmen;
- Parrini, Elena;
- Coras, Roland;
- Galuppi, Anna;
- Craiu, Dana;
- Kluger, Gerhard;
- Parmeggiani, Antonia;
- Pieper, Tom;
- Schmitt‐Mechelke, Thomas;
- Striano, Pasquale;
- Giordano, Flavio;
- Blumcke, Ingmar;
- Guerrini, Renzo
Publication type:
Article
Attention-deficit/hyperactivity disorder in childhood epilepsy: A neuropsychological and functional imaging study.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 2, p. 325, doi. 10.1111/j.1528-1167.2011.03377.x
By:
- Bechtel, Nina;
- Kobel, Maja;
- Penner, Iris-Katharina;
- Specht, Karsten;
- Klarhöfer, Markus;
- Scheffler, Klaus;
- Opwis, Klaus;
- Schmitt-Mechelke, Thomas;
- Capone, Andrea;
- Weber, Peter
Publication type:
Article
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1915, doi. 10.1111/j.1528-1167.2010.02691.x
By:
- Le Gal, François;
- Korff, Christian M.;
- Monso-Hinard, Christine;
- Mund, Michael T.;
- Morris, Michael;
- Malafosse, Alain;
- Schmitt-Mechelke, Thomas
Publication type:
Article
Vigabatrin therapy in infantile spasms: Solving one problem and inducing another?
Published in:
2009
By:
- Wohlrab, Gabriele;
- Leiba, Hana;
- Kästle, Rebekka;
- Ramelli, Gianpaolo;
- Schmitt-Mechelke, Thomas;
- Schmitt, Bernhard;
- Landau, Klara
Publication type:
Letter
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1277, doi. 10.1002/ajmg.a.36439
By:
- Bartholdi, Deborah;
- Stray‐Pedersen, Asbjørg;
- Azzarello‐Burri, Silvia;
- Kibaek, Maria;
- Kirchhoff, Maria;
- Oneda, Beatrice;
- Rødningen, Olaug;
- Schmitt‐Mechelke, Thomas;
- Rauch, Anita;
- Kjaergaard, Susanne
Publication type:
Article
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1853, doi. 10.1002/ajmg.a.35994
By:
- Bartholdi, Deborah;
- Asadollahi, Reza;
- Oneda, Beatrice;
- Schmitt ‐ Mechelke, Thomas;
- Tonella, Paolo;
- Baumer, Alessandra;
- Rauch, Anita
Publication type:
Article
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Published in:
Nature Genetics, 2008, v. 40, n. 3, p. 287, doi. 10.1038/ng.86
By:
- Unger, Sheila;
- Böhm, Detlef;
- Kaiser, Frank J;
- Kaulfuß, Silke;
- Borozdin, Wiktor;
- Buiting, Karin;
- Burfeind, Peter;
- Böhm, Johann;
- Barrionuevo, Francisco;
- Craig, Alexander;
- Borowski, Kristi;
- Keppler-Noreuil, Kim;
- Schmitt-Mechelke, Thomas;
- Steiner, Bernhard;
- Bartholdi, Deborah;
- Lemke, Johannes;
- Mortier, Geert;
- Sandford, Richard;
- Zabel, Bernhard;
- Superti-Furga, Andrea
Publication type:
Article
Basilar artery stroke in childhood.
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 1, p. 65, doi. 10.1111/dmcn.12015
By:
- GOEGGEL SIMONETTI, BARBARA;
- RITTER, BARBARA;
- GAUTSCHI, MATTHIAS;
- WEHRLI, EDITH;
- BOLTSHAUSER, EUGEN;
- SCHMITT‐MECHELKE, THOMAS;
- WEBER, PETER;
- WEISSERT, MARKUS;
- EL‐KOUSSY, MARWAN;
- STEINLIN, MAJA
Publication type:
Article
Cerebral sinus venous thrombosis in Swiss children Sebastian Grunt et al. Cerebral Sinus Venous Thrombosis in Swiss Children.
Published in:
Developmental Medicine & Child Neurology, 2010, v. 52, n. 12, p. 1145, doi. 10.1111/j.1469-8749.2010.03722.x
By:
- GRUNT, SEBASTIAN;
- WINGEIER, KEVIN;
- WEHRLI, EDITH;
- BOLTSHAUSER, EUGEN;
- CAPONE, ANDREA;
- FLUSS, JOEL;
- GUBSER-MERCATI, DANIELLE;
- JEANNET, PIERRE-YVES;
- KELLER, ELMAR;
- MARCOZ, JEAN-PIERRE;
- SCHMITT-MECHELKE, THOMAS;
- WEBER, PETER;
- WEISSERT, MARKUS;
- STEINLIN, MAJA
Publication type:
Article
Neuroimaging in childhood arterial ischaemic stroke: evaluation of imaging modalities and aetiologies.
Published in:
Developmental Medicine & Child Neurology, 2010, v. 52, n. 11, p. 1033, doi. 10.1111/j.1469-8749.2010.03685.x
By:
- BUERKI, SARAH;
- ROELLIN, KATJA;
- REMONDA, LUCA;
- MERCATI, DANIELLE GUBSER;
- JEANNET, PIERRE-YVES;
- KELLER, ELMAR;
- LUETSCHG, JUERG;
- MENACHE, CAROLINE;
- RAMELLI, GIAN PAOLO;
- SCHMITT-MECHELKE, THOMAS;
- WEISSERT, MARKUS;
- BOLTSHAUSER, EUGEN;
- STEINLIN, MAJA
Publication type:
Article
Congenital pulmonary lymphangiectasia.
Published in:
Pediatric Pulmonology, 1991, v. 10, n. 4, p. 310, doi. 10.1002/ppul.1950100416
By:
- Huber, Alfred;
- Schranz, Dietmar;
- Blaha, Ingeborg;
- Schmitt-Mechelke, Thomas;
- Schumacher, Reinhard
Publication type:
Article
Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis.
Published in:
Journal of Neurology, 2013, v. 260, n. 6, p. 1545, doi. 10.1007/s00415-012-6825-7
By:
- Wolf, Katharina;
- Schmitt-Mechelke, Thomas;
- Kollias, Spyridon;
- Curt, Armin
Publication type:
Article
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7 , 32.
Published in:
2022
By:
- Spenger, Johannes;
- Maier, Esther M.;
- Wechselberger, Katharina;
- Bauder, Florian;
- Kocher, Melanie;
- Sperl, Wolfgang;
- Preisel, Martin;
- Schiergens, Katharina A.;
- Konstantopoulou, Vassiliki;
- Röschinger, Wulf;
- Häberle, Johannes;
- Schmitt-Mechelke, Thomas;
- Wortmann, Saskia B.;
- Fingerhut, Ralph
Publication type:
Correction Notice
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020032
By:
- Spenger, Johannes;
- Maier, Esther M.;
- Wechselberger, Katharina;
- Bauder, Florian;
- Kocher, Melanie;
- Sperl, Wolfgang;
- Preisel, Martin;
- Schiergens, Katharina A.;
- Konstantopoulou, Vassiliki;
- Röschinger, Wulf;
- Häberle, Johannes;
- Schmitt-Mechelke, Thomas;
- Wortmann, Saskia B.;
- Fingerhut, Ralph
Publication type:
Article
The male phenotype in osteopathia striata congenita with cranial sclerosis.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2397, doi. 10.1002/ajmg.a.34178
By:
- Holman, Sarah K.;
- Daniel, Phil;
- Jenkins, Zandra A.;
- Herron, Rachel L.;
- Morgan, Tim;
- Savarirayan, Ravi;
- Chow, C.W.;
- Bohring, Axel;
- Mosel, Annette;
- Lacombe, Didier;
- Steiner, Bernhard;
- Schmitt-Mechelke, Thomas;
- Schroter, Barbara;
- Raas-Rothschild, Annick;
- Miñaur, Sixto Garcia;
- Porteous, Mary;
- Parker, Michael;
- Quarrell, Oliver;
- Tapon, Dagmar;
- Cormier-Daire, Valérie
Publication type:
Article
Specific MRIi Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Published in:
Frontiers in Neurology, 2016, v. 7, p. 1, doi. 10.3389/fneur.2016.00203
By:
- Theunissen, Tom E. J.;
- Szklarczyk, Radek;
- Gerards, Mike;
- Hellebrekers, Debby M. E. I.;
- Mulder-Den Hartog, Elvira N. M.;
- Vanoevelen, Jo;
- Kamps, Rick;
- de Koning, Bart;
- Rutledge, S. Lane;
- Schmitt-Mechelke, Thomas;
- van Berkel, Carola G. M.;
- van der Knaap, Marjo S.;
- de Coo, Irenaeus F. M.;
- Smeets, Hubert J. M.
Publication type:
Article
Quality of life after surgical treatment of primary intramedullary spinal cord tumors in children.
Published in:
Journal of Neurosurgery, 2014, p. 170, doi. 10.3171/2013.11.PEDS13346
By:
- SCHNEIDER, CHRISTIAN;
- HIDALGO, EVELINE TERESA;
- SCHMITT-MECHELKE, THOMAS;
- KOTHBAUER, KARL F.
Publication type:
Article

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