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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 19

Zeitschriftenartikel

Schneeberger, Pauline E.; Kortuem, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Alonso, Aroa Rodriguez; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G.; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja und Kutsche, Kerstin (2020): Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. In: Brain, Bd. 143: S. 2437-2453

Willimsky, Eva-Katharina; Munzig, Anna; Mayer, Karin; Biskup, Saskia; Abicht, Angela; Hoertnagel, Konstanze; Voss, Hubertus von; Klein, Hanns-Georg; Rost, Imma; Larsen, Line H. G.; Dahl, Hanns Atli; Hoelz, Hannes; Stülpnagel, Celina von und Borggraefe, Ingo (2020): Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters. In: Neuropediatrics, Bd. 52, Nr. 02: S. 92-97

Gasser, Marius; Boonsimma, Ponghatai; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthomg, Chalurmpon; Ittiwut, Chupong; Krenn, Martin; Zimprich, Fritz; Milenkovic, Ivan; Abicht, Angela; Biskup, Saskia; Roser, Timo; Shotelersuk, Vorasuk; Tacke, Moritz; Kuersten, Marianne; Wagner, Matias; Borggraefe, Ingo; Suphapeetiporn, Kanya und Stulpnagel, Celina von (2020): ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response. In: Journal of Clinical Neuroscience, Bd. 72: S. 31-38

Boonsimma, Ponghatai; Gasser, Marius Michael; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthong, Chalurmpon; Ittiwut, Chupong; Wagner, Matias; Krenn, Martin; Zimprich, Fritz; Abicht, Angela; Biskup, Saskia; Roser, Timo; Borggraefe, Ingo; Suphapeetiporn, Kanya und Shotelersuk, Vorasuk (2020): Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases. In: Gene, Bd. 749, 144709

Kuehlewein, Laura; Zobor, Ditta; Andreasson, Sten Olof; Ayuso, Carmen; Banfi, Sandro; Bocquet, Beatrice; Bernd, Antje S.; Biskup, Saskia; Boon, Camiel J. F.; Downes, Susan M.; Fischer, M. Dominik; Holz, Frank G.; Kellner, Ulrich; Leroy, Bart P.; Meunier, Isabelle; Nasser, Fadi; Rosenberg, Thomas; Rudolph, Gunther; Stingl, Katarina; Thiadens, Alberta A. H. J.; Wilhelm, Barbara; Wissinger, Bernd; Zrenner, Eberhart; Kohl, Susanne und Weisschuh, Nicole (2020): Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial. In: Jama Ophthalmology, Bd. 138, Nr. 12: S. 1241-1250

Voeglein, Jonathan; Willem, Michael; Trambauer, Johannes; Schönecker, Sonja; Dieterich, Marianne; Biskup, Saskia; Giudici, Camilla; Utz, Kathrin; Oberstein, Timo; Brendel, Matthias; Rominger, Axel; Danek, Adrian; Steiner, Harald; Haass, Christian und Levin, Johannes (2019): Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-beta processing effects. In: Neurobiology of Aging, Bd. 84

Zagaglia, Sara; Selch, Christina; Nisevic, Jelena Radic; Mei, Davide; Michalak, Zuzanna; Hernandez-Hernandez, Laura; Krithika, S.; Vezyroglou, Katharina; Varadkar, Sophia M.; Pepler, Alexander; Biskup, Saskia; Leao, Miguel; Gärtner, Jutta; Merkenschlager, Andreas; Jaksch, Michaela; Moller, Rikke S.; Gardella, Elena; Schlott Kristiansen, Britta; Kjaersgaard Hansen, Lars; Vari, Maria Stella; Helbig, Katherine L.; Desai, Sonal; Smith-Hicks, Constance L.; Hino-Fukuyo, Naomi; Talvik, Tiina; Laugesaar, Rael; Ilves, Pilvi; Ounap, Katrin; Körber, Ingrid; Hartlieb, Till; Kudernatsch, Manfred; Winkler, Peter; Schimmel, Mareike; Hasse, Anette; Knuf, Markus; Heinemeyer, Jan; Makowski, Christine; Ghedia, Sondhya; Subramanian, Gopinath M.; Striano, Pasquale; Thomas, Rhys H.; Micallef, Caroline; Thom, Maria; Werring, David J.; Kluger, Gerhard Josef; Cross, J. Helen; Guerrini, Renzo; Balestrini, Simona und Sisodiya, Sanjay M. (2018): Neurologic phenotypes associated with COL4A1/2 mutations Expanding the spectrum of disease. In: Neurology, Bd. 91, Nr. 22, E2078-E2088 [PDF, 1MB]

Blauwendraat, Cornelis; Wilke, Carlo; Simon-Sanchez, Javier; Jansen, Iris E.; Reifschneider, Anika; Capell, Anja; Haass, Christian ORCID logoORCID: https://orcid.org/0000-0002-4869-1627; Castillo-Lizardo, Melissa; Biskup, Saskia; Maetzler, Walter; Rizzu, Patrizia; Heutink, Peter und Synofzik, Matthis (2018): The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. In: Genetics in Medicine, Bd. 20, Nr. 2: S. 240-249

Catarino, Claudia B.; Vollmar, Christian; Kuepper, Clemens; Seelos, Klaus; Gallenmüller, Constanze; Bartkiewicz, Joanna; Biskup, Saskia; Hoertnagel, Konstanze und Klopstock, Thomas (2018): Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. In: Journal of Neurology, Bd. 265, Nr. 2: S. 388-393

Dohrn, Maike F.; Glöckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hörtnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Jörg B.; Claeys, Kristl G.; Gess, Burkhard; Katona, Istvan; Ferbert, Andreas; Vittore, Debora; Grimm, Alexander; Wolking, Stefan; Schöls, Ludger; Lerche, Holger; Korenke, G. Christoph; Fischer, Dirk; Schrank, Bertold; Kotzaeridou, Urania; Kurlemann, Gerhard; Dräger, Bianca; Schirmacher, Anja; Young, Peter; Schlotter-Weigel, Beate und Biskup, Saskia (2017): Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. In: Journal of Neurochemistry, Bd. 143, Nr. 5: S. 507-522

Catarino, Claudia B.; Ahting, Uwe; Gusic, Mirjana; Iuso, Arcangela; Repp, Birgit; Peters, Katrin; Biskup, Saskia; Livonius, Bettina von; Prokisch, Holger und Klopstock, Thomas (2017): Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA. In: Mitochondrion, Bd. 36: S. 15-20

Karin, Ivan; Borggräfe, Ingo; Catarino, Claudia B.; Kuhm, Christoph; Hörtnagel, Konstanze; Biskup, Saskia; Opladen, Thomas; Blau, Nenad; Heinen, Florian und Klopstock, Thomas (2017): Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. In: Journal of Neurology, Bd. 264, Nr. 3: S. 578-582

Montagnese, Federica; Klupp, Elisabeth; Karampinos, Dimitrios C.; Biskup, Saskia; Gläser, Dieter; Kirschke, Jan S. und Schoser, Benedikt (2017): Two patients with GMPPB mutation: the overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. In: Muscle & Nerve, Bd. 56, Nr. 2: S. 334-340

Johannesen, Katrine; Marini, Carla; Pfeffer, Siona; Møller, Rikke S.; Dorn, Thomas; Niturad, Christina; Gardella, Elena; Weber, Yvonne; Søndergård, Marianne; Hjalgrim, Helle; Nikanorova, Mariana; Becker, Felicitas; Larsen, Line H. G.; Dahl, Hans A.; Maier, Oliver; Mei, Davide; Biskup, Saskia; Klein, Karl M.; Reif, Philipp S.; Rosenow, Felix; Elias, Abdallah F.; Hudson, Cindy; Helbig, Katherine L.; Schubert-Bast, Susanne; Scordo, Maria R.; Craiu, Dana; Djémié, Tania; Hoffman-Zacharska, Dorota; Caglayan, Hande; Helbig, Ingo; Serratosa, Jose; Striano, Pasquale; Jonghe, Peter de; Weckhuysen, Sarah; Suls, Arvid; Muru, Kai; Talvik, Inga; Talvik, Tiina; Muhle, Hiltrud; Borggraefe, Ingo; Rost, Imma; Guerrini, Renzo; Lerche, Holger; Lemke, Johannes R.; Rubboli, Guido und Maljevic, Snezana (2016): Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. In: Neurology, Bd. 87, Nr. 11: S. 1140-1151

Mignot, Cyril; Stülpnagel, Celina von; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggräfe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yiş, Uluç; Çağlayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, André; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Hörtnagel, Konstanze; Biskup, Saskia; Lemke, Johannes R.; Héron, Delphine; Kluger, Gerhard und Depienne, Christel (2016): Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. In: Journal of Medical Genetics, Bd. 53, Nr. 8: S. 511-522 [PDF, 1MB]

D'Adamo, Maria Cristina; Gallenmüller, Constanze; Servettini, Ilenio; Hartl, Elisabeth; Tucker, Stephen J.; Arning, Larissa; Biskup, Saskia; Grottesi, Alessandro; Guglielmi, Luca; Imbrici, Paola; Bernasconi, Pia; Di Giovanni, Giuseppe; Franciolini, Fabio; Catacuzzeno, Luigi; Pessia, Mauro und Klopstock, Thomas (2015): Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. In: Frontiers in Physiology, Bd. 5, 525 [PDF, 5MB]

Vogl, Ina; Benet-Pagès, Anna; Eck, Sebastian H.; Kuhn, Marius; Vosberg, Sebastian; Greif, Philipp A.; Metzeler, Klaus H.; Biskup, Saskia; Müller-Reible, Clemens und Klein, Hanns-Georg (2013): Applications and data analysis of next-generation sequencing. In: Laboratoriumsmedizin - Journal of Laboratory Medicine, Bd. 37, Nr. 6: S. 305-315 [PDF, 2MB]

Synofzik, Matthis; Soehn, Anne S.; Gburek-Augustat, Janina; Schicks, Julia; Karle, Kathrin N.; Schuele, Rebecca; Haack, Tobias B.; Schoening, Martin; Biskup, Saskia; Rudnik-Schoeneborn, Sabine; Senderek, Jan; Hoffmann, Karl-Titus; MacLeod, Patrick; Schwarz, Johannes; Bender, Benjamin; Krueger, Stefan; Kreuz, Friedmar; Bauer, Peter und Schoels, Ludger (2013): Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. In: Orphanet Journal of Rare Diseases 8:41 [PDF, 1MB]

Vogl, Ina; Eck, Sebastian H.; Benet-Pages, Anna; Greif, Philipp A.; Hirv, Kaimo; Kotschote, Stefan; Kuhn, Marius; Gehring, Andrea; Bergmann, Carsten; Bolz, Hanno Joern; Stuhrmann, Manfred; Biskup, Saskia; Metzeler, Klaus H. und Klein, Hanns-Georg (2012): Diagnostic applications of next generation sequencing: working towards quality standards. In: Laboratoriumsmedizin - Journal of Laboratory Medicine, Bd. 36, Nr. 4: S. 227-239 [PDF, 647kB]

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