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Showing 1–6 of 6 results
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Research |
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
- Hannah Stamberger
- , Trine B. Hammer
- , Elena Gardella
- , Danique R. M. Vlaskamp
- , Birgitte Bertelsen
- , Simone Mandelstam
- , Iris de Lange
- , Jing Zhang
- , Candace T. Myers
- , Christina Fenger
- , Zaid Afawi
- , Edith P. Almanza Fuerte
- , Danielle M. Andrade
- , Yunus Balcik
- , Bruria Ben Zeev
- , Mark F. Bennett
- , Samuel F. Berkovic
- , Bertrand Isidor
- , Arjan Bouman
- , Eva Brilstra
- , Øyvind L. Busk
- , Anita Cairns
- , Roseline Caumes
- , Nicolas Chatron
- , Russell C. Dale
- , Christa de Geus
- , Patrick Edery
- , Deepak Gill
- , Jacob Bie Granild-Jensen
- , Lauren Gunderson
- , Boudewijn Gunning
- , Gali Heimer
- , Johan R. Helle
- , Michael S. Hildebrand
- , Georgie Hollingsworth
- , Volodymyr Kharytonov
- , Eric W. Klee
- , Bobby P. C. Koeleman
- , David A. Koolen
- , Christian Korff
- , Sébastien Küry
- , Gaetan Lesca
- , Dorit Lev
- , Richard J. Leventer
- , Mark T. Mackay
- , Erica L. Macke
- , Meriel McEntagart
- , Shekeeb S. Mohammad
- , Pauline Monin
- , Martino Montomoli
- , Eva Morava
- , Sebastien Moutton
- , Alison M. Muir
- , Elena Parrini
- , Peter Procopis
- , Emmanuelle Ranza
- , Laura Reed
- , Philipp S. Reif
- , Felix Rosenow
- , Massimiliano Rossi
- , Lynette G. Sadleir
- , Tara Sadoway
- , Helenius J. Schelhaas
- , Amy L. Schneider
- , Krati Shah
- , Ruth Shalev
- , Sanjay M. Sisodiya
- , Thomas Smol
- , Connie T. R. M. Stumpel
- , Kyra Stuurman
- , Joseph D. Symonds
- , Frederic Tran Mau-Them
- , Nienke Verbeek
- , Judith S. Verhoeven
- , Geoffrey Wallace
- , Keren Yosovich
- , Yuri A. Zarate
- , Ayelet Zerem
- , Sameer M. Zuberi
- , Renzo Guerrini
- , Heather C. Mefford
- , Chirag Patel
- , Yue-Hua Zhang
- , Rikke S. Møller
- & Ingrid E. Scheffer
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Research |
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
- Michael A van Es
- , Paul WJ van Vught
- , Hylke M Blauw
- , Lude Franke
- , Christiaan GJ Saris
- , Ludo Van Den Bosch
- , Sonja W de Jong
- , Vianney de Jong
- , Frank Baas
- , Ruben van't Slot
- , Robin Lemmens
- , Helenius J Schelhaas
- , Anna Birve
- , Kristel Sleegers
- , Christine Van Broeckhoven
- , Jennifer C Schymick
- , Bryan J Traynor
- , John HJ Wokke
- , Cisca Wijmenga
- , Wim Robberecht
- , Peter M Andersen
- , Jan H Veldink
- , Roel A Ophoff
- & Leonard H van den Berg
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Research |
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
- Michaela Auer-Grumbach
- , Andrea Olschewski
- , Lea Papić
- , Hannie Kremer
- , Meriel E McEntagart
- , Sabine Uhrig
- , Carina Fischer
- , Eleonore Fröhlich
- , Zoltán Bálint
- , Bi Tang
- , Heimo Strohmaier
- , Hanns Lochmüller
- , Beate Schlotter-Weigel
- , Jan Senderek
- , Angelika Krebs
- , Katherine J Dick
- , Richard Petty
- , Cheryl Longman
- , Neil E Anderson
- , George W Padberg
- , Helenius J Schelhaas
- , Conny M A van Ravenswaaij-Arts
- , Thomas R Pieber
- , Andrew H Crosby
- & Christian Guelly
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Research |
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
- Bradley N Smith
- , Stephen Newhouse
- , Aleksey Shatunov
- , Caroline Vance
- , Simon Topp
- , Lauren Johnson
- , Jack Miller
- , Younbok Lee
- , Claire Troakes
- , Kirsten M Scott
- , Ashley Jones
- , Ian Gray
- , Jamie Wright
- , Tibor Hortobágyi
- , Safa Al-Sarraj
- , Boris Rogelj
- , John Powell
- , Michelle Lupton
- , Simon Lovestone
- , Peter C Sapp
- , Markus Weber
- , Peter J Nestor
- , Helenius J Schelhaas
- , Anneloor ALM ten Asbroek
- , Vincenzo Silani
- , Cinzia Gellera
- , Franco Taroni
- , Nicola Ticozzi
- , Leonard Van den Berg
- , Jan Veldink
- , Phillip Van Damme
- , Wim Robberecht
- , Pamela J Shaw
- , Janine Kirby
- , Hardev Pall
- , Karen E Morrison
- , Alex Morris
- , Jacqueline de Belleroche
- , J M B Vianney de Jong
- , Frank Baas
- , Peter M Andersen
- , John Landers
- , Robert H Brown Jr
- , Michael E Weale
- , Ammar Al-Chalabi
- & Christopher E Shaw
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Research |
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
- Michael A van Es
- , Jan H Veldink
- , Christiaan G J Saris
- , Hylke M Blauw
- , Paul W J van Vught
- , Anna Birve
- , Robin Lemmens
- , Helenius J Schelhaas
- , Ewout J N Groen
- , Mark H B Huisman
- , Anneke J van der Kooi
- , Marianne de Visser
- , Caroline Dahlberg
- , Karol Estrada
- , Fernando Rivadeneira
- , Albert Hofman
- , Machiel J Zwarts
- , Perry T C van Doormaal
- , Dan Rujescu
- , Eric Strengman
- , Ina Giegling
- , Pierandrea Muglia
- , Barbara Tomik
- , Agnieszka Slowik
- , Andre G Uitterlinden
- , Corinna Hendrich
- , Stefan Waibel
- , Thomas Meyer
- , Albert C Ludolph
- , Jonathan D Glass
- , Shaun Purcell
- , Sven Cichon
- , Markus M Nöthen
- , H-Erich Wichmann
- , Stefan Schreiber
- , Sita H H M Vermeulen
- , Lambertus A Kiemeney
- , John H J Wokke
- , Simon Cronin
- , Russell L McLaughlin
- , Orla Hardiman
- , Katsumi Fumoto
- , R Jeroen Pasterkamp
- , Vincent Meininger
- , Judith Melki
- , P Nigel Leigh
- , Christopher E Shaw
- , John E Landers
- , Ammar Al-Chalabi
- , Robert H Brown Jr
- , Wim Robberecht
- , Peter M Andersen
- , Roel A Ophoff
- & Leonard H van den Berg
