Sylvia Stockler

Sylvia Stockler

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Sylvia Stockler

Sylvia Stockler

Publications by authors named "Sylvia Stockler"

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37Publications

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Prenatal alcohol exposure and sleep-wake behaviors: exploratory and naturalistic observations in the clinical setting and in an animal model.

Sleep Med 2019 02 25;54:101-112. Epub 2018 Oct 25.

Department of Cellular & Physiological Sciences, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.sleep.2018.10.006DOI Listing
February 2019

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:

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

"Emplotted Narratives" and Structured "Behavioral Observations" Supporting the Diagnosis of Willis-Ekbom Disease/Restless Legs Syndrome in Children with Neurodevelopmental Conditions.

CNS Neurosci Ther 2016 11 13;22(11):894-905. Epub 2016 Jun 13.

Division of Biochemical Diseases, Department of Pediatrics, Faculty of Medicine, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1111/cns.12564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095767PMC
November 2016

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

Mol Genet Metab 2015 Feb 15;114(2):226-32. Epub 2014 Jul 15.

University of British Columbia, Vancouver, Canada; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.07.004DOI Listing
February 2015

Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy.

JIMD Rep 2015 10;15:113-6. Epub 2014 Apr 10.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver, BC, V5Z 1M9, Canada.

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http://dx.doi.org/10.1007/8904_2014_305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270865PMC
December 2014

Granulomatous herpes simplex encephalitis in an infant with multicystic encephalopathy: a distinct clinicopathologic entity?

Pediatr Neurol 2014 Apr 14;50(4):392-6. Epub 2013 Dec 14.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada; Department of Pathology and Laboratory Medicine, Children's and Women's Health Centre of British Columbia, Vancouver, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994130074
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http://dx.doi.org/10.1016/j.pediatrneurol.2013.12.008DOI Listing
April 2014

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

Mol Genet Metab 2014 Apr 24;111(4):428-38. Epub 2014 Jan 24.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC (TIDE-BC, www.tidebc.org)), Canada.

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http://dx.doi.org/10.1016/j.ymgme.2014.01.011DOI Listing
April 2014

Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Mol Genet Metab 2014 Apr 24;111(4):462-6. Epub 2014 Feb 24.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.02.010DOI Listing
April 2014

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Neurology 2014 Apr 21;82(16):1425-33. Epub 2014 Mar 21.

From the Department of Pediatrics (B.P., L.A.), Division of Child Neurology, University Hospital Zurich, Switzerland; the Department of Pediatrics (B.P.), Division of Neurology and Inborn Errors of Metabolism, Medical University Graz, Austria; radiz-"Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich" (B.P., L.A.); CRC Clinical Research Center (B.P.), University Childrens' Hospital Zurich, Switzerland; the Laboratory of Metabolic Diseases (K.P., E.P., D.H.), Department of Pediatrics, University Hospital Graz, Austria; UCL Institute of Child Health (P.M., P.C.), Clinical and Molecular Genetics Unit, London, UK; Childrens Hospital St. Gallen (O.M., O.H.), Switzerland; the Department of Pediatrics (G.H.), Klinikum Esslingen; the Department of Pediatrics (S.K.), St. Marien Hospital, Landshut, Germany; the Division of Child Neurology (M.C.) and Division of Biochemical Diseases (S.S.), Department of Pediatrics, University of British Columbia, Vancouver, Canada; the Department of Pediatrics, Division of Child Neurology (N.W.), VU University Medical Center and Neuroscience Campus Amsterdam; and the Department of Clinical Chemistry (E.S.), Vrije Universiteit Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001193PMC
April 2014

Cultural aspects in the management of inborn errors of metabolism.

J Inherit Metab Dis 2012 Nov 23;35(6):1147-52. Epub 2012 Feb 23.

Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1007/s10545-012-9455-4DOI Listing
November 2012

Child Neurology: Krabbe disease: a potentially treatable white matter disorder.

Neurology 2012 Nov;79(19):e170-2

Division of Pediatric Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1212/WNL.0b013e3182735c8bDOI Listing
November 2012

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Pediatrics 2012 Oct 10;130(4):e1034-9. Epub 2012 Sep 10.

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1542/peds.2011-2711DOI Listing
October 2012

Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Mol Genet Metab 2012 Aug 22;106(4):478-81. Epub 2012 Jun 22.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.008DOI Listing
August 2012

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

Orphanet J Rare Dis 2012 Jul 23;7:47. Epub 2012 Jul 23.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1186/1750-1172-7-47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458980PMC
July 2012

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients.

J Inherit Metab Dis 2012 Mar 6;35(2):355-62. Epub 2011 Jul 6.

Department of Medical Genetics, The Child and Family Research Institute, University of British Columbia, 4500 Oak Street, RM C234, Vancouver, BC, Canada, V6H-3N1.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9369
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http://link.springer.com/10.1007/s10545-011-9369-6
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http://dx.doi.org/10.1007/s10545-011-9369-6DOI Listing
March 2012

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

Mol Genet Metab 2012 Mar 30;105(3):368-81. Epub 2011 Nov 30.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver BC V6H 3V4, Vancouver, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2011.11.191DOI Listing
March 2012

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24.

Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver BC, Canada V6H 3V4.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.014DOI Listing
January 2012

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.

Mol Genet Metab 2012 Jan 6;105(1):155-8. Epub 2011 Oct 6.

Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.037DOI Listing
January 2012

Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: clinical and biochemical insights from infant rats.

Mol Genet Metab 2011 Jun 26;103(2):179-84. Epub 2011 Feb 26.

Department of Pediatrics, University of British Columbia, British Columbia Children's Hospital, 4480 Oak Street, Vancouver, BC, Canada V6H

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100058
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http://dx.doi.org/10.1016/j.ymgme.2011.02.015DOI Listing
June 2011

Effects of d-3-hydroxybutyrate treatment on hypoglycemic coma in rat pups.

Exp Neurol 2011 Jan 5;227(1):180-7. Epub 2010 Nov 5.

Department of Pediatrics, British Columbia Children's Hospital and University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.expneurol.2010.10.013DOI Listing
January 2011

Vitamin B6 dependent seizures.

Can J Neurol Sci 2009 Aug;36 Suppl 2:S73-7

Division of Biochemical Diseases and Cystic Fibrosis, Children's and Women's Health Center, University of British Columbia, Vancouver, BC, Canada.

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August 2009

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

Subcell Biochem 2007 ;46:149-66

Department of Pediatrics, University of British Columbia, Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, B.C., V6H 3V4, Canada.

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August 2008

Creatine and creatine kinase in health and disease--a bright future ahead?

Subcell Biochem 2007 ;46:309-34

DSM Nutritional Products Ltd., Biotechnology R&D, Bldg. 203/17B, P.O. Box 3255, CH-4002 Basel, Switzerland.

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August 2008