S
Sylvia Stockler
Researcher at University of British Columbia
Publications - 73
Citations - 2871
Sylvia Stockler is an academic researcher from University of British Columbia. The author has contributed to research in topics: Medicine & Population. The author has an hindex of 21, co-authored 65 publications receiving 2450 citations. Previous affiliations of Sylvia Stockler include Boston Children's Hospital & University of Göttingen.
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Journal ArticleDOI
Creatine Deficiency in the Brain: A New, Treatable Inborn Error of Metabolism
Sylvia Stockler,U. Holzbach,Folker Hanefeld,I. Marquardt,Gunther Helms,Martin Requart,Wolfgang Hänicke,Jens Frahm +7 more
TL;DR: In this article, a patient with extrapyramidal movement disorder and extremely low creatinine concentrations in serum and urine, in vivo proton magnetic resonance spectroscopy disclosed a generalized depletion of creatine in the brain.
Journal ArticleDOI
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F. Hamdan,Candace T. Myers,Patrick Cossette,Philippe Lemay,Dan Spiegelman,Alexandre D. Laporte,Christina Nassif,Ousmane Diallo,Jean Monlong,Maxime Cadieux-Dion,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 L 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,Frédéric Tran Mau-Them,Ange-Line Bruel,Alain Verloes,Katrin Õunap,Monica H. Wojcik,Monica H. Wojcik,Dara V.F. Albert,Sunita Venkateswaran,Tyson L Ware,D. L. Jones,Yu Chi Liu,Yu Chi Liu,Shekeeb S. Mohammad,Peyman Bizargity,Carlos A. Bacino,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 Jarjour,Stéphanie Jacques,Renee-Myriam Boucher,Emilie Riou,Myriam Srour,Lionel Carmant,Lionel Carmant,Anne Lortie,Philippe Major,Paola Diadori,François Dubeau,Guy D'Anjou,Guillaume Bourque,Samuel F. Berkovic,Lynette G. Sadleir,Philippe M. Campeau,Philippe M. Campeau,Zoha Kibar,Zoha Kibar,Ronald G. Lafrenière,Simon Girard,Simon Girard,Simon Girard,Saadet Mercimek-Mahmutoglu,Cyrus Boelman,Guy A. Rouleau,Ingrid E. Scheffer,Ingrid E. Scheffer,Ingrid E. Scheffer,Heather C Mefford,Danielle M. Andrade,Elsa Rossignol,Elsa Rossignol,Berge A. Minassian,Berge A. Minassian,Jacques L. Michaud,Jacques L. Michaud +119 more
TL;DR: De novo missense variants explained a larger proportion of individuals in the series than in other series that were primarily ascertained because of ID, indicating that the genetic landscape of DEE might be different from that of ID without epilepsy.
Journal ArticleDOI
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Sylvia Stockler,Barbara Plecko,Sidney M. Gospe,Marion B. Coulter-Mackie,Mary B. Connolly,Clara D.M. van Karnebeek,Saadet Mercimek-Mahmutoglu,Hans Hartmann,Gunter Scharer,Eduard Struijs,Ingrid Tein,Cornelis Jakobs,Peter E. Clayton,Johan L.K. Van Hove +13 more
TL;DR: The differential diagnosis of pyridoxine or PLP responsive seizure disorders includes PLP-responsive epileptic encephalopathy due to PNPO deficiency, neonatal/infantile hypophosphatasia (TNSALP deficiency), familial hyperphosphatAsia (PIGV deficiency), as well as yet unidentified conditions and nutritional vitamin B6 deficiency.
Journal ArticleDOI
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism
TL;DR: Long-term oral administration of creatine-monohydrate to an infant with extrapyramidal signs resulted in substantial clinical improvement, disappearance of magnetic resonance (MRI) signal abnormalities in the globus pallidus, and normalisation of slow background activity on the electroencephalogram (EEG).
Journal Article
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
TL;DR: Two mutant GAMT alleles were identified that carried a single base substitution within a 5' splice site or a 13-nt insertion and gave rise to four mutant transcripts that lack a residue known to be critical for catalytic activity of GAMT.