Gabriela Purcarin

Gabriela Purcarin

UNVERIFIED PROFILE

Are you Gabriela Purcarin?   Register this Author

Register author
Gabriela Purcarin

Gabriela Purcarin

Publications by authors named "Gabriela Purcarin"

Are you Gabriela Purcarin?   Register this Author

6Publications

204Reads

10Profile Views

The first case of deafness-dystonia syndrome due to compound heterozygous variants in .

Clin Case Rep 2018 Sep 26;6(9):1815-1817. Epub 2018 Jul 26.

Section of Genetics Department of Pediatrics University of Oklahoma Health Sciences Center Oklahoma City Oklahoma.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ccr3.1719
Publisher Site
http://dx.doi.org/10.1002/ccr3.1719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132111PMC
September 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Experience in the use of clobazam in the treatment of Lennox-Gastaut syndrome.

Ther Adv Neurol Disord 2014 May;7(3):169-76

Associate Professor, Department of Neurology, University of Oklahoma Health Sciences Center, 711 Stanton L. Young Boulevard, Suite 215, Oklahoma City, OK 73104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1756285614521314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3994921PMC
May 2014