Alfredo Brusco
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf A, Eckstein M, Hilger A, Dworschak G, Rösch W, Ebert A, Stein R, Brusco A, Di Grazia M, Tamer A, Torres F, Hernandez J, Erben P, Maj C, Olmos J, Riancho J, Valero C, Hostettler I, Houlden H, Werring D, Schumacher J, Gehlen J, Giel A, Buerfent B, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione R, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer F, Schmiedeke E, Boemers T, van Rooij I, Feitz W, Marcelis C, Lacher M, Nelson J, Ure B, Fortmann C, Gale D, Chan M, Ludwig K, Nöthen M, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. Commun Biol 2022; 5:1203.
09.11.2022A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
09.11.2022Commun Biol 2022; 5:1203
Mingardo Enrico, Beaman Glenda, Grote Philip, Nordenskjöld Agneta, Newman William, Woolf Adrian S, Eckstein Markus, Hilger Alina C, Dworschak Gabriel C, Rösch Wolfgang, Ebert Anne-Karolin, Stein Raimund, Brusco Alfredo, Di Grazia Massimo, Tamer Ali, Torres Federico M, Hernandez Jose L, Erben Philipp, Maj Carlo, Olmos Jose M, Riancho Jose A, Valero Carmen, Hostettler Isabel, Houlden Henry, Werring David J, Schumacher Johannes, Gehlen Jan, Giel Ann-Sophie, Buerfent Benedikt C, Arkani Samara, Åkesson Elisabeth, Rotstein Emilia, Ludwig Michael, Holmdahl Gundela, Giorgio Elisa, Berettini Alfredo, Keene David, Cervellione Raimondo M, Younsi Nina, Ortlieb Melissa, Oswald Josef, Haid Bernhard, Promm Martin, Neissner Claudia, Hirsch Karin, Stehr Maximilian, Schäfer Frank-Mattias, Schmiedeke Eberhard, Boemers Thomas M, van Rooij Iris A L M, Feitz Wouter F J, Marcelis Carlo L M, Lacher Martin, Nelson Jana, Ure Benno, Fortmann Caroline, Gale Daniel P, Chan Melanie M Y, Ludwig Kerstin U, Nöthen Markus M, Heilmann Stefanie, Zwink Nadine, Jenetzky Ekkehart, Odermatt Benjamin, Knapp Michael, Reutter Heiko
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Nethisinghe S, Lim W, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney M, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn M, Bhatia K, Wood N, Hardy J, Polke J, Veneziano L, Brusco A, Davis M, Giunti P. Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. Front Cell Neurosci 2018; 12:429.
23.11.2018Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
23.11.2018Front Cell Neurosci 2018; 12:429
Nethisinghe Suran, Lim Wei N, Ging Heather, Zeitlberger Anna, Abeti Rosella, Pemble Sally, Sweeney Mary G, Labrum Robyn, Cervera Charisse, Houlden Henry, Rosser Elisabeth, Limousin Patricia, Kennedy Angus, Lunn Michael Pt, Bhatia Kailash P, Wood Nicholas W, Hardy John, Polke James M, Veneziano Liana, Brusco Alfredo, Davis Mary B, Giunti Paola