Gabriela Ana Horvath
Investigator, BC Children's Hospital
American Journal of Medical Genetics Part A
Emilie T. Thberge and Bo Sun and Ruiwu Wang and Arezoo Mohajeri and Clara D. M. Van Karnebeek and Cornelius F. Boerkoel and Stephanie Huynh and Gabriella Horvath and S. R. Wayne Chen and Anna Lehman
DOI: 10.1002/ajmga.7006902 / 2026
Journal of Inherited Metabolic Disease
Mariya Sigatullina Bondarenko and Oya Kuseyri Hbschmann and Jan Kulhnek and Roser Pons and Toni S. Pearson and Kathrin Jeltsch and Ivana Badnjarevic and Tessa Wassenberg and Gabriella Horvath and Galina Stevanovic and Manju A. Kurian and Elisenda Corts-Saladelafont and Agathe Roubertie and Vincenzo Leuzzi and Mariarita Bertoldi and Mario Mastrangelo and Birgit Assmann and Angeles Garcia-Cazorla and Thomas Opladen
DOI: 10.1002/jimd.7010611 / 2025
Emilie T. Thberge and Kate Durbano and Diane Demailly and Sophie Huby and Arezoo Mohajeri and Clara van Karnebeek and Gabriella A. Horvath and Karen Usdin and Anna Lehman and Laura Cif and Phillip A. Richmond
DOI: 10.1101/2024.06.05.2430812706 / 2024
Journal of Inherited Metabolic Disease
Natalia Alexandra Julia-Palacios and Oya Kuseyri Hbschmann and Mireia Olivella and Roser Pons and Gabriella Horvath and Thomas Lcke and Cheuk-Wing Fung and Suet-Na Wong and Elisenda Corts-Saladelafont and M. Mar Rovira-Remisa and Yilmaz Yildiz and Saadet Mercimek-Andrews and Birgit Assmann and Galina Stevanovic and Filippo Manti and Heiko Brennenstuhl and Sabine Jung-Klawitter and Kathrin Jeltsch and H. Serap Sivri and Sven F. Garbade and ngels Garca-Cazorla and Thomas Opladen
DOI: 10.1002/jimd.1272305 / 2024
Acta Haematologica
Farida Almarzooqi and Hilary Vallance and Michelle Mezei and Anna Lehman and Gabriella Horvath and Bojana Rakic and Leslie Zypchen and Andre Mattman
DOI: 10.1159/000529311Neuropediatrics
Maksim Parfyonov and Robin Friedlander and Brian Banno and Dean Elbe and Gabriella Horvath
DOI: 10.1055/s-0042-174232306 / 2022
Neuropediatrics
J. Micallef and S. Stockler-Ipsiroglu and C.D. van Karnebeek and R. Salvarinova-Zivkovic and G. Horvath
DOI: 10.1055/s-0039-340201006 / 2020
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
Csilla Egri and Mary Dunbar and Gabriella Ana Horvath
DOI: 10.1017/cjn.2019.33403 / 2020
Cells
Liza Douiev and Ruth Sheffer and Gabriella Horvath and Ann Saada
DOI: 10.3390/cells902030101 / 2020
Journal of Child Neurology
Gabriella A. Horvath and Maja Tarailo-Graovac and Tanja Bartel and Simone Race and Margot I. Van Allen and Ingrid Blydt-Hansen and Colin J. Ross and Wyeth W. Wasserman and Mary B. Connolly and Clara D. M. van Karnebeek
DOI: 10.1177/088307381774044301 / 2018
Journal of the Neurological Sciences
Gabriella A. Horvath and Lorelyn Meisner and Kathryn Selby and Robert Stowe and Bruce Carleton
DOI: 10.1016/j.jns.2017.04.04707 / 2017
Balci TB and Hartley T and Xi Y and Dyment DA and Beaulieu CL and Bernier FP and Dupuis L and Horvath G and Mendoza-Londono R and Prasad C and Richer J and Yang XR and Armour CM and Bareke E and Fernandez BA and McMillan HJ and Lamont R and Majewski J and Parboosingh J and Narayan Prasad A
DOI: 10.1111/cge.12987 PubMed: 2817008402 / 2017
Opladen T and Corts-Saladelafont E and Mastrangelo M and Horvath G and Pons R and Lopez-Laso E and Fernndez-Ramos JA and Honzik T and Pearson T and Friedman J and Scholl-Brgi S and Wassenberg T and Jung-Klawitter S and Kuseyri O and Jeltsch K and Kurian MA and Garcia-Cazorla and International Working Group on Neurotransmitter related disorders (iNTD)
DOI: 10.1016/j.ymgmr.2016.09.006 PubMed: 2783011712 / 2016
Horvath GA and Hukin J and Stockler-Ipsiroglu SG and Aroichane M
DOI: 10.1055/s-0036-1583183 PubMed: 2710448408 / 2016
Horvath GA and Demos M and Shyr C and Matthews A and Zhang L and Race S and Stockler-Ipsiroglu S and Van Allen MI and Mancarci O and Toker L and Pavlidis P and Ross CJ and Wasserman WW and Trump N and Heales S and Pope S and Cross JH and van Karnebeek CD
DOI: 10.1016/j.ymgme.2015.11.008 PubMed: 2664717501 / 2016
van Karnebeek C and Horvath G and Murphy T and Purtzki J and Bowden K and Sirrs S and Honey CR and Stockler S
DOI: 10.1007/8904_2014_305 PubMed: 24718842van Karnebeek CD and Sly WS and Ross CJ and Salvarinova R and Yaplito-Lee J and Santra S and Shyr C and Horvath GA and Eydoux P and Lehman AM and Bernard V and Newlove T and Ukpeh H and Chakrapani A and Preece MA and Ball S and Pitt J and Vallance HD and Coulter-Mackie M and Nguyen H
DOI: 10.1016/j.ajhg.2014.01.006 PubMed: 2453020303 / 2014
Demos MK and van Karnebeek CD and Ross CJ and Adam S and Shen Y and Zhan SH and Shyr C and Horvath G and Suri M and Fryer A and Jones SJ and Friedman JM and FORGE Canada Consortium
DOI: 10.1186/1750-1172-9-15 PubMed: 2446807401 / 2014
Hartnett C and Salvarinova-Zivkovic R and Yap-Todos E and Cheng B and Giezen A and Horvath G and Lillquist Y and Vallance H and Stockler-Ipsiroglu S
DOI: 10.1016/j.ymgme.2013.01.007 PubMed: 2346586404 / 2013
Horvath G and Sirrs S and Stockler S and Salvarinova-Zivkovic R and Vallance H and Waters P
DOI: 10.1186/1471-2474-14-s2-p2Mercimek-Mahmutoglu S and Horvath GA and Coulter-Mackie M and Nelson T and Waters PJ and Sargent M and Struys E and Jakobs C and Stockler-Ipsiroglu S and Connolly MB
DOI: 10.1542/peds.2011-0123 PubMed: 2252928305 / 2012
Salvarinova-Zivkovic R and Hartnett C and Sinclair G and Dix D and Horvath G and Lillquist Y and Stockler-Ipsiroglu S
DOI: 10.1016/j.ymgme.2012.01.007 PubMed: 2230585604 / 2012
Horvath GA and Eichler F and Poskitt K and Stockler-Ipsiroglu S
DOI: 10.1055/s-0032-1307455 PubMed: 2243016102 / 2012
Horvath GA and Selby K and Poskitt K and Hyland K and Waters PJ and Coulter-Mackie M and Stockler-Ipsiroglu SG
DOI: 10.1177/0333102411420584 PubMed: 2201314111 / 2011
Mercimek-Mahmutoglu S and Connolly MB and Poskitt KJ and Horvath GA and Lowry N and Salomons GS and Casey B and Sinclair G and Davis C and Jakobs C and Stockler-Ipsiroglu S
DOI: 10.1016/j.ymgme.2010.08.016 PubMed: 2084688912 / 2010
Horvath GA and Stockler-Ipsiroglu SG and Salvarinova-Zivkovic R and Lillquist YP and Connolly M and Hyland K and Blau N and Rupar T and Waters PJ
DOI: 10.1016/j.ymgme.2008.01.003 PubMed: 1827617905 / 2008
Horvath GA and Davidson AG and Stockler-Ipsiroglu SG and Lillquist YP and Waters PJ and Olpin S and Andresen BS and Palaty J and Nelson J and Vallance H
PubMed: 18767270Horvath GA and Armstrong L
DOI: 10.1002/ajmg.a.31734 PubMed: 1748662506 / 2007
Metabolomics in CSF (spinal fluid) in patients with secondary neurotransmitter deficiencies. Collaborating with a metabolomics Lab in Calgary to characterize and find common abnormalities in more than 150 CSF samples from patients who were found to have CSF neurotransmitter deficiencies, but no primary genetic neurotransmitter deficiency disorder was found.
Calcium imaging in human neuronal Induced Pluripotential Cells (iPSC’s) derived from patients with channelopathies (SCN1A mutations). Characterization of Calcium imaging shows that these neurons are a good experimental model for seizure generation and treatment response.
Participating in an international project with France, on validation of clinical and deep learning-based tool for recognition and assessment of complex movement disorders.
Clinical project: Retrospective review of patients admitted with status dystonicus (severe, persistent dystonia) to BC Children’s Hospital in the last 10 years, leading to a provincial Status dystonicus management guideline development.
Characterization of a new genetic disorder associated with hemiplagic migraines, coma, progressive spasticity, weakness, seizure disorder, spinal cord atrophy, and systemic serotonin deficiency. The research of a family with the above described phenotype lead to discovery of disruption of cytoskeletal and axonal transport, and will cause cytoskeletal aggregates in neurons, that will keep neurotransmitter transporters (serotonin transporter) and other membrane expressed proteins (e.g. Na/K ATPase). This disorder has similarities with ALS, and could be a major breakthrough in ALS research. This research also include calcium imaging in human neuronal iPSC’s.
Dravet Foundation Canada, Drug response on intraneuronal Ca2+ signaling in neuronal IPScells in Dravet syndrome, $25,000 (Aug 2024- Sep 2025)
RDMM Network, Exploring the mechanism of Ca2+ signaling in neuronal IPScells in Dravet syndrome, $30,000 (Mar 2025- Feb 2026)
Dystonia Medical Research Foundation Canada, Validation of a clinical and deep learning-based tool for recognition, assessment, and monitoring of complex movement disorders, $9,000 (Sep 2024-Aug 2025)
BC Children’s Hospital Foundation, Characterization of CSF metabolome in patients with secondary neurotransmitter deficiencies, $10,000 (Aug 2024- Jul 2025)
“Excellence in Research Mentorship”, award from the Neurology residents, awarded at the Annual Neurology Resident Research Day, in 2015, 2016, 2017
Clinical Investigator Program, two year scholarship awarded (July 2008 to June 2010)
Laura MacRae Award 2007 (awarded to outstanding graduate student in the Dept. of Pediatrics, UBC, by the College of Physicians and Surgeons of British Columbia, June 2007
Rookie of the Year 2007, (awarded by the Pediatric Residents, UBC, at the Annual Graduation and Awards Dinner), June 2007.
Every day, our researchers work towards breakthroughs to transform the lives of kids in BC and around the world. Learn about our latest innovations and advancements in child health.
October is Rett Syndrome Awareness Month, a time to foster understanding about this complex neurological disorder that impacts mostly females — one in 10,000 births globally. Rett syndrome affects multiple organ systems and can lead to severe impairments that disrupt key aspects of an individual’s life. “This condition is rare, but it places a heavy burden…
For children and families, a diagnosis of atypical cerebral palsy (CP) comes with as many questions as it does answers. CP is a broad category of disorders that affect a child’s movement and ability to communicate. Around two in every 1,000 children will develop the condition.
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BC Children's Hospital Research Institute operates on the ancestral and unceded territory of the Coast Salish peoples — xʷməθkʷəy̓əm (Musqueam), Sḵwx̱wú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations. Further, this acknowledgement, gratitude, and respect extends to all of the First Nations communities on whose territories the Research Institute builds relationships and operates in British Columbia.
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