Showing 1–25 of 25 results
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Research | | Open
Incidence, determinants and prognostic relevance of dyspnea at admission in patients with Takotsubo syndrome: results from the international multicenter GEIST registry
- Luca Arcari
- , Maria Beatrice Musumeci
- , Thomas Stiermaier
- , Ibrahim El-Battrawy
- , Christian Möller
- , Federico Guerra
- , Giuseppina Novo
- , Enrica Mariano
- , Luca Rosario Limite
- , Luca Cacciotti
- , Raffaella Semeraro
- , Massimo Volpe
- , Francesco Romeo
- , Pasquale Caldarola
- , Holger Thiele
- , Ibrahim Akin
- , Natale Daniele Brunetti
- , Ingo Eitel
- & Francesco Santoro
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Amendments and Corrections |
Correction: The genomic and clinical landscape of fetal akinesia
- Matthias Pergande
- , Susanne Motameny
- , Özkan Özdemir
- , Mona Kreutzer
- , Haicui Wang
- , Hülya-Sevcan Daimagüler
- , Kerstin Becker
- , Mert Karakaya
- , Harald Ehrhardt
- , Nursel Elcioglu
- , Slavica Ostojic
- , Cho-Ming Chao
- , Amit Kawalia
- , Özgür Duman
- , Anne Koy
- , Andreas Hahn
- , Jens Reimann
- , Katharina Schoner
- , Anne Schänzer
- , Jens H. Westhoff
- , Eva Maria Christina Schwaibold
- , Mireille Cossee
- , Marion Imbert-Bouteille
- , Harald von Pein
- , Göknur Haliloglu
- , Haluk Topaloglu
- , Janine Altmüller
- , Peter Nürnberg
- , Holger Thiele
- , Raoul Heller
- & Sebahattin Cirak
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Research |
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
- Dheeraj R. Bobbili
- , Dennis Lal
- , Patrick May
- , Eva M. Reinthaler
- , Kamel Jabbari
- , Holger Thiele
- , Michael Nothnagel
- , Wiktor Jurkowski
- , Martha Feucht
- , Peter Nürnberg
- , Holger Lerche
- , Fritz Zimprich
- , Roland Krause
- , Bernd A. Neubauer
- , Eva M. Reinthaler
- , Fritz Zimprich
- , Martha Feucht
- , Hannelore Steinböck
- , Birgit Neophytou
- , Julia Geldner
- , Ursula Gruber-Sedlmayr
- , Edda Haberlandt
- , Gabriel M. Ronen
- , Janine Altmüller
- , Dennis Lal
- , Peter Nürnberg
- , Thomas Sander
- , Holger Thiele
- , Roland Krause
- , Patrick May
- , Rudi Balling
- , Holger Lerche
- & Bernd A. Neubauer
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Research |
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Research | | Open
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Research |
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Amendments and Corrections |
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia
- Hormos Salimi Dafsari
- , Rosanne Sprute
- , Gilbert Wunderlich
- , Hülya-Sevcan Daimagüler
- , Ezgi Karaca
- , Adriana Contreras
- , Kerstin Becker
- , Mira Schulze-Rhonhof
- , Karl Kiening
- , Tülay Karakulak
- , Manja Kloss
- , Annette Horn
- , Amande Pauls
- , Peter Nürnberg
- , Janine Altmüller
- , Holger Thiele
- , Birgit Assmann
- , Anne Koy
- & Sebahattin Cirak
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Research |
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
- Marco Henneke
- , Simone Diekmann
- , Andreas Ohlenbusch
- , Jens Kaiser
- , Volkher Engelbrecht
- , Alfried Kohlschütter
- , Ralph Krätzner
- , Marcos Madruga-Garrido
- , Michèle Mayer
- , Lennart Opitz
- , Diana Rodriguez
- , Franz Rüschendorf
- , Johannes Schumacher
- , Holger Thiele
- , Sven Thoms
- , Robert Steinfeld
- , Peter Nürnberg
- & Jutta Gärtner
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Research |
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Research |
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
- David Coelho
- , Jaeseung C Kim
- , Isabelle R Miousse
- , Stephen Fung
- , Marcel du Moulin
- , Insa Buers
- , Terttu Suormala
- , Patricie Burda
- , Michele Frapolli
- , Martin Stucki
- , Peter Nürnberg
- , Holger Thiele
- , Horst Robenek
- , Wolfgang Höhne
- , Nicola Longo
- , Marzia Pasquali
- , Eugen Mengel
- , David Watkins
- , Eric A Shoubridge
- , Jacek Majewski
- , David S Rosenblatt
- , Brian Fowler
- , Frank Rutsch
- & Matthias R Baumgartner
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Research | | Open
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families
- Andreas J. Forstner
- , Sascha B. Fischer
- , Lorena M. Schenk
- , Jana Strohmaier
- , Anna Maaser-Hecker
- , Céline S. Reinbold
- , Sugirthan Sivalingam
- , Julian Hecker
- , Fabian Streit
- , Franziska Degenhardt
- , Stephanie H. Witt
- , Johannes Schumacher
- , Holger Thiele
- , Peter Nürnberg
- , José Guzman-Parra
- , Guillermo Orozco Diaz
- , Georg Auburger
- , Margot Albus
- , Margitta Borrmann-Hassenbach
- , Maria José González
- , Susana Gil Flores
- , Francisco J. Cabaleiro Fabeiro
- , Francisco del Río Noriega
- , Fermin Perez Perez
- , Jesus Haro González
- , Fabio Rivas
- , Fermin Mayoral
- , Michael Bauer
- , Andrea Pfennig
- , Andreas Reif
- , Stefan Herms
- , Per Hoffmann
- , Mehdi Pirooznia
- , Fernando S. Goes
- , Marcella Rietschel
- , Markus M. Nöthen
- & Sven Cichon
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Research |
The genomic and clinical landscape of fetal akinesia
- Matthias Pergande
- , Susanne Motameny
- , Özkan Özdemir
- , Mona Kreutzer
- , Haicui Wang
- , Hülya-Sevcan Daimagüler
- , Kerstin Becker
- , Mert Karakaya
- , Harald Ehrhardt
- , Nursel Elcioglu
- , Slavica Ostojic
- , Cho-Ming Chao
- , Amit Kawalia
- , Özgür Duman
- , Anne Koy
- , Andreas Hahn
- , Jens Reimann
- , Katharina Schoner
- , Anne Schänzer
- , Jens H. Westhoff
- , Eva Maria Christina Schwaibold
- , Mireille Cossee
- , Marion Imbert-Bouteille
- , Harald von Pein
- , Göknur Haliloglu
- , Haluk Topaloglu
- , Janine Altmüller
- , Peter Nürnberg
- , Holger Thiele
- , Raoul Heller
- & Sebahattin Cirak
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Research | | Open
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Research |
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
- Hormos Salimi Dafsari
- , Rosanne Sprute
- , Gilbert Wunderlich
- , Hülya-Sevcan Daimagüler
- , Ezgi Karaca
- , Adriana Contreras
- , Kerstin Becker
- , Mira Schulze-Rhonhof
- , Karl Kiening
- , Tülay Karakulak
- , Manja Kloss
- , Annette Horn
- , Amande Pauls
- , Peter Nürnberg
- , Janine Altmüller
- , Holger Thiele
- , Birgit Assmann
- , Anne Koy
- & Sebahattin Cirak
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Research | | Open
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Research | | Open
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Research | | Open
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Research |
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
- Christopher T Gordon
- , Shifeng Xue
- , Gökhan Yigit
- , Hicham Filali
- , Kelan Chen
- , Nadine Rosin
- , Koh-ichiro Yoshiura
- , Myriam Oufadem
- , Tamara J Beck
- , Ruth McGowan
- , Alex C Magee
- , Janine Altmüller
- , Camille Dion
- , Holger Thiele
- , Alexandra D Gurzau
- , Peter Nürnberg
- , Dieter Meschede
- , Wolfgang Mühlbauer
- , Nobuhiko Okamoto
- , Vinod Varghese
- , Rachel Irving
- , Sabine Sigaudy
- , Denise Williams
- , S Faisal Ahmed
- , Carine Bonnard
- , Mung Kei Kong
- , Ilham Ratbi
- , Nawfal Fejjal
- , Meriem Fikri
- , Siham Chafai Elalaoui
- , Hallvard Reigstad
- , Christine Bole-Feysot
- , Patrick Nitschké
- , Nicola Ragge
- , Nicolas Lévy
- , Gökhan Tunçbilek
- , Audrey S M Teo
- , Michael L Cunningham
- , Abdelaziz Sefiani
- , Hülya Kayserili
- , James M Murphy
- , Chalermpong Chatdokmaiprai
- , Axel M Hillmer
- , Duangrurdee Wattanasirichaigoon
- , Stanislas Lyonnet
- , Frédérique Magdinier
- , Asif Javed
- , Marnie E Blewitt
- , Jeanne Amiel
- , Bernd Wollnik
- & Bruno Reversade
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Research |
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
- Carol-Anne Martin
- , Ilyas Ahmad
- , Anna Klingseisen
- , Muhammad Sajid Hussain
- , Louise S Bicknell
- , Andrea Leitch
- , Gudrun Nürnberg
- , Mohammad Reza Toliat
- , Jennie E Murray
- , David Hunt
- , Fawad Khan
- , Zafar Ali
- , Sigrid Tinschert
- , James Ding
- , Charlotte Keith
- , Margaret E Harley
- , Patricia Heyn
- , Rolf Müller
- , Ingrid Hoffmann
- , Valérie Cormier Daire
- , Hélène Dollfus
- , Lucie Dupuis
- , Anu Bashamboo
- , Kenneth McElreavey
- , Ariana Kariminejad
- , Roberto Mendoza-Londono
- , Anthony T Moore
- , Anand Saggar
- , Catie Schlechter
- , Richard Weleber
- , Holger Thiele
- , Janine Altmüller
- , Wolfgang Höhne
- , Matthew E Hurles
- , Angelika Anna Noegel
- , Shahid Mahmood Baig
- , Peter Nürnberg
- & Andrew P Jackson
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Research |
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
- Julian Schubert
- , Aleksandra Siekierska
- , Mélanie Langlois
- , Patrick May
- , Clément Huneau
- , Felicitas Becker
- , Hiltrud Muhle
- , Arvid Suls
- , Johannes R Lemke
- , Carolien G F de Kovel
- , Holger Thiele
- , Kathryn Konrad
- , Amit Kawalia
- , Mohammad R Toliat
- , Thomas Sander
- , Franz Rüschendorf
- , Almuth Caliebe
- , Inga Nagel
- , Bernard Kohl
- , Angela Kecskés
- , Maxime Jacmin
- , Katia Hardies
- , Sarah Weckhuysen
- , Erik Riesch
- , Thomas Dorn
- , Eva H Brilstra
- , Stephanie Baulac
- , Rikke S Møller
- , Helle Hjalgrim
- , Bobby P C Koeleman
- , Karin Jurkat-Rott
- , Frank Lehmann-Horn
- , Jared C Roach
- , Gustavo Glusman
- , Leroy Hood
- , David J Galas
- , Benoit Martin
- , Peter A M de Witte
- , Saskia Biskup
- , Peter De Jonghe
- , Ingo Helbig
- , Rudi Balling
- , Peter Nürnberg
- , Alexander D Crawford
- , Camila V Esguerra
- , Yvonne G Weber
- & Holger Lerche
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Research |
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
- Davor Lessel
- , Bruno Vaz
- , Swagata Halder
- , Paul J Lockhart
- , Ivana Marinovic-Terzic
- , Jaime Lopez-Mosqueda
- , Melanie Philipp
- , Joe C H Sim
- , Katherine R Smith
- , Judith Oehler
- , Elisa Cabrera
- , Raimundo Freire
- , Kate Pope
- , Amsha Nahid
- , Fiona Norris
- , Richard J Leventer
- , Martin B Delatycki
- , Gotthold Barbi
- , Simon von Ameln
- , Josef Högel
- , Marina Degoricija
- , Regina Fertig
- , Martin D Burkhalter
- , Kay Hofmann
- , Holger Thiele
- , Janine Altmüller
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Melanie Bahlo
- , George M Martin
- , Cora M Aalfs
- , Junko Oshima
- , Janos Terzic
- , David J Amor
- , Ivan Dikic
- , Kristijan Ramadan
- & Christian Kubisch
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Research |
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
- Johannes R Lemke
- , Dennis Lal
- , Eva M Reinthaler
- , Isabelle Steiner
- , Michael Nothnagel
- , Michael Alber
- , Kirsten Geider
- , Bodo Laube
- , Michael Schwake
- , Katrin Finsterwalder
- , Andre Franke
- , Markus Schilhabel
- , Johanna A Jähn
- , Hiltrud Muhle
- , Rainer Boor
- , Wim Van Paesschen
- , Roberto Caraballo
- , Natalio Fejerman
- , Sarah Weckhuysen
- , Peter De Jonghe
- , Jan Larsen
- , Rikke S Møller
- , Helle Hjalgrim
- , Laura Addis
- , Shan Tang
- , Elaine Hughes
- , Deb K Pal
- , Kadi Veri
- , Ulvi Vaher
- , Tiina Talvik
- , Petia Dimova
- , Rosa Guerrero López
- , José M Serratosa
- , Tarja Linnankivi
- , Anna-Elina Lehesjoki
- , Susanne Ruf
- , Markus Wolff
- , Sarah Buerki
- , Gabriele Wohlrab
- , Judith Kroell
- , Alexandre N Datta
- , Barbara Fiedler
- , Gerhard Kurlemann
- , Gerhard Kluger
- , Andreas Hahn
- , D Edda Haberlandt
- , Christina Kutzer
- , Jürgen Sperner
- , Felicitas Becker
- , Yvonne G Weber
- , Martha Feucht
- , Hannelore Steinböck
- , Birgit Neophythou
- , Gabriel M Ronen
- , Ursula Gruber-Sedlmayr
- , Julia Geldner
- , Robert J Harvey
- , Per Hoffmann
- , Stefan Herms
- , Janine Altmüller
- , Mohammad R Toliat
- , Holger Thiele
- , Peter Nürnberg
- , Christian Wilhelm
- , Ulrich Stephani
- , Ingo Helbig
- , Holger Lerche
- , Fritz Zimprich
- , Bernd A Neubauer
- , Saskia Biskup
- & Sarah von Spiczak
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Research |
A de novo gain-of-function mutation in SCN11A causes loss of pain perception
- Enrico Leipold
- , Lutz Liebmann
- , G Christoph Korenke
- , Theresa Heinrich
- , Sebastian Gießelmann
- , Jonathan Baets
- , Matthias Ebbinghaus
- , R Oliver Goral
- , Tommy Stödberg
- , J Christopher Hennings
- , Markus Bergmann
- , Janine Altmüller
- , Holger Thiele
- , Andrea Wetzel
- , Peter Nürnberg
- , Vincent Timmerman
- , Peter De Jonghe
- , Robert Blum
- , Hans-Georg Schaible
- , Joachim Weis
- , Stefan H Heinemann
- , Christian A Hübner
- & Ingo Kurth
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Research |
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
- Margaret E Harley
- , Olga Murina
- , Andrea Leitch
- , Martin R Higgs
- , Louise S Bicknell
- , Gökhan Yigit
- , Andrew N Blackford
- , Anastasia Zlatanou
- , Karen J Mackenzie
- , Kaalak Reddy
- , Mihail Halachev
- , Sarah McGlasson
- , Martin A M Reijns
- , Adeline Fluteau
- , Carol-Anne Martin
- , Simone Sabbioneda
- , Nursel H Elcioglu
- , Janine Altmüller
- , Holger Thiele
- , Lynn Greenhalgh
- , Luciana Chessa
- , Mohamad Maghnie
- , Mahmoud Salim
- , Michael B Bober
- , Peter Nürnberg
- , Stephen P Jackson
- , Matthew E Hurles
- , Bernd Wollnik
- , Grant S Stewart
- & Andrew P Jackson
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Research |
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
- Mathieu Lemaire
- , Véronique Frémeaux-Bacchi
- , Franz Schaefer
- , Murim Choi
- , Wai Ho Tang
- , Moglie Le Quintrec
- , Fadi Fakhouri
- , Sophie Taque
- , François Nobili
- , Frank Martinez
- , Weizhen Ji
- , John D Overton
- , Shrikant M Mane
- , Gudrun Nürnberg
- , Janine Altmüller
- , Holger Thiele
- , Denis Morin
- , Georges Deschenes
- , Véronique Baudouin
- , Brigitte Llanas
- , Laure Collard
- , Mohammed A Majid
- , Eva Simkova
- , Peter Nürnberg
- , Nathalie Rioux-Leclerc
- , Gilbert W Moeckel
- , Marie Claire Gubler
- , John Hwa
- , Chantal Loirat
- & Richard P Lifton