Gabriella Horvath

Gabriella Horvath

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Gabriella Horvath

Gabriella Horvath

Publications by authors named "Gabriella Horvath"

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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.

Mol Genet Genomic Med 2019 Oct 1;7(10):e00961. Epub 2019 Sep 1.

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

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http://dx.doi.org/10.1002/mgg3.961DOI Listing
October 2019

The Neuropeptide Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) is Protective in Inflammation and Oxidative Stress-Induced Damage in the Kidney.

Int J Mol Sci 2019 Oct 7;20(19). Epub 2019 Oct 7.

Department of Anatomy, MTA-PTE PACAP Research Team, University of Pecs Medical School, 7624 Pecs, Hungary.

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http://dx.doi.org/10.3390/ijms20194944DOI Listing
October 2019

Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death and Reversible Short QT Syndrome.

Can J Cardiol 2019 Sep 16;35(9):1256.e1-1256.e2. Epub 2019 May 16.

BC Inherited Arrhythmia Program, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cjca.2019.05.014DOI Listing
September 2019

Protective Effect of PACAP on Ischemia/Reperfusion-Induced Kidney Injury of Male and Female Rats: Gender Differences.

J Mol Neurosci 2019 Jul 16;68(3):408-419. Epub 2018 Nov 16.

Department of Anatomy, MTA-PTE PACAP Research Team, University of Pecs Medical School, Szigeti ut 12, Pecs, 7624, Hungary.

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http://link.springer.com/10.1007/s12031-018-1207-y
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http://dx.doi.org/10.1007/s12031-018-1207-yDOI Listing
July 2019

Pituitary adenylate cyclase activating polypeptide acts against neovascularization in retinal pigment epithelial cells.

Ann N Y Acad Sci 2019 Jul 17. Epub 2019 Jul 17.

Institute of Biophysics, Biological Research Centre, Hungarian Academy of Sciences, Szeged, Hungary.

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http://dx.doi.org/10.1111/nyas.14189DOI Listing
July 2019

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.

Neuropediatrics 2018 12 25;49(6):369-372. Epub 2018 Jul 25.

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

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1667171
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http://dx.doi.org/10.1055/s-0038-1667171DOI Listing
December 2018

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.

Front Neurol 2018 3;9:1016. Epub 2018 Dec 3.

Division of Genetics and Metabolism, Children's National Health System, Washington, DC, United States.

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http://dx.doi.org/10.3389/fneur.2018.01016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286965PMC
December 2018

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Neuroscience 2018 08 29;384:152-164. Epub 2018 May 29.

Division of Biochemical Diseases, Department of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada; Department of Pediatrics and Clinical Genetics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S03064522183038
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http://dx.doi.org/10.1016/j.neuroscience.2018.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679957PMC
August 2018

GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.

J Child Neurol 2018 05;33(6):413-416

10 Division of Neurosurgery, Department of Surgery, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1177/0883073818756134DOI Listing
May 2018

Presence and Effects of Pituitary Adenylate Cyclase Activating Polypeptide Under Physiological and Pathological Conditions in the Stomach.

Front Endocrinol (Lausanne) 2018 19;9:90. Epub 2018 Mar 19.

Department of Anatomy, MTA-PTE PACAP Research Team, Centre for Neuroscience, University of Pecs Medical School, Pecs, Hungary.

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http://dx.doi.org/10.3389/fendo.2018.00090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868562PMC
March 2018

Intestinal Microbiota Changes in Mice Lacking Pituitary Adenylate Cyclase Activating Polypeptide (PACAP) - Bifidobacteria Make the Difference.

Eur J Microbiol Immunol (Bp) 2017 Sep 11;7(3):187-199. Epub 2017 Sep 11.

Department of Anatomy, MTA-PTE PACAP Research Team, Centre for Neuroscience, University of Pecs, Hungary.

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http://dx.doi.org/10.1556/1886.2017.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632746PMC
September 2017

Improved strength on 5-hydroxytryptophan and carbidopa in spinal cord atrophy.

J Neurol Sci 2017 Jul 27;378:59-62. Epub 2017 Apr 27.

BC Children's Hospital, Division of Translational Therapeutics, 4480 Oak St., Vancouver V6H 3V4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.04.047DOI Listing
July 2017

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

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http://dx.doi.org/10.1056/NEJMoa1515792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983272PMC
June 2016

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Mol Genet Metab 2016 Jan 17;117(1):42-8. Epub 2015 Nov 17.

Division of Biochemical Diseases, Dept of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada; Center for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.11.008DOI Listing
January 2016

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

The effects of pituitary adenylate cyclase activating polypeptide in renal ischemia/reperfusion.

Acta Biol Hung 2014 Dec;65(4):369-78

PTE-MTA PACAP "Lendület" Research Team Department of Anatomy Pécs Hungary.

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http://dx.doi.org/10.1556/ABiol.65.2014.4.1DOI Listing
December 2014

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

Am J Hum Genet 2014 Mar 13;94(3):453-61. Epub 2014 Feb 13.

Division of Biochemical Diseases, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Treatable Intellectual Disability Endeavour in British Columbia, BC Children's Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2014.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951944PMC
March 2014

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Orphanet J Rare Dis 2014 Jan 28;9:15. Epub 2014 Jan 28.

Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.

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http://dx.doi.org/10.1186/1750-1172-9-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937150PMC
January 2014

Preliminary results of the application of gonadal tissue transfer in various chicken breeds in the poultry gene conservation.

Anim Reprod Sci 2013 Sep 5;141(1-2):86-9. Epub 2013 Jul 5.

Institute for Small Animal Research and Co-ordination Centre for Gene Conservation, Isaszegi u. 200, H-2100 Godollo, Hungary.

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http://dx.doi.org/10.1016/j.anireprosci.2013.06.016DOI Listing
September 2013

[Over- or underestimated? Bibliographic survey of the biomedical periodicals published in Hungary].

Orv Hetil 2013 Jun;154(26):1010-7

Semmelweis Egyetem Központi Könyvtár, Budapest.

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http://dx.doi.org/10.1556/OH.2013.29653DOI Listing
June 2013

Vitrification of early avian blastodermal cells with a new type of cryocontainer.

Acta Vet Hung 2012 Dec;60(4):501-9

Institute for Small Animal Research and Co-ordination Centre for Gene Conservation Isaszegi út 200 H-2100 Gödöllő Hungary.

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http://dx.doi.org/10.1556/AVet.2012.044DOI Listing
December 2012

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Pediatrics 2012 May 23;129(5):e1368-72. Epub 2012 Apr 23.

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

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http://dx.doi.org/10.1542/peds.2011-0123DOI Listing
May 2012

Effects of pituitary adenylate cyclase activating polypeptide in the urinary system, with special emphasis on its protective effects in the kidney.

Neuropeptides 2012 Apr 31;46(2):61-70. Epub 2011 May 31.

Department of Anatomy, University of Pecs, Szigeti u 12, 7624 Pecs, Hungary.

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http://dx.doi.org/10.1016/j.npep.2011.05.001DOI Listing
April 2012

Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.

Neuropediatrics 2012 Feb 19;43(1):48-52. Epub 2012 Mar 19.

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

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http://dx.doi.org/10.1055/s-0032-1307455DOI Listing
February 2012

Presence of pituitary adenylate cyclase-activating polypeptide (PACAP) in the plasma and milk of ruminant animals.

Gen Comp Endocrinol 2011 May 23;172(1):115-9. Epub 2010 Dec 23.

Institute of Animal Science, Centre for Agricultural and Applied Economic Sciences, University of Debrecen, H-4015 Debrecen, P.O. Box 36, Hungary.

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http://dx.doi.org/10.1016/j.ygcen.2010.12.012DOI Listing
May 2011

Effects of PACAP on oxidative stress-induced cell death in rat kidney and human hepatocyte cells.

J Mol Neurosci 2011 Jan 30;43(1):67-75. Epub 2010 Jul 30.

Department of Anatomy, University of Pécs, Szigeti u 12, 7624, Pécs, Hungary.

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http://dx.doi.org/10.1007/s12031-010-9428-8DOI Listing
January 2011

Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

Mol Genet Metab 2010 Dec 26;101(4):409-12. Epub 2010 Aug 26.

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

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http://dx.doi.org/10.1016/j.ymgme.2010.08.016DOI Listing
December 2010

Protective effect of PACAP against doxorubicin-induced cell death in cardiomyocyte culture.

J Mol Neurosci 2010 Nov 20;42(3):419-27. Epub 2010 Apr 20.

Department of Biochemistry and Medical Chemistry, University of Pecs, Szigeti u 12, Pecs, Hungary.

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http://link.springer.com/content/pdf/10.1007/s12031-010-9349
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http://link.springer.com/10.1007/s12031-010-9349-6
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http://dx.doi.org/10.1007/s12031-010-9349-6DOI Listing
November 2010

PACAP ameliorates oxidative stress in the chicken inner ear: an in vitro study.

Regul Pept 2010 Feb 4;160(1-3):91-8. Epub 2009 Dec 4.

Department of Biochemistry and Medical Chemistry, University of Pecs, Hungary.

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http://dx.doi.org/10.1016/j.regpep.2009.12.003DOI Listing
February 2010

Presence of pituitary adenylate cyclase activating polypeptide-38 in human plasma and milk.

Eur J Endocrinol 2009 Apr 27;160(4):561-5. Epub 2009 Jan 27.

Department of Pharmacology and Pharmacotherapeutics, University of Pecs, Pecs, Hungary.

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http://dx.doi.org/10.1530/EJE-08-0911DOI Listing
April 2009

Effects of PACAP on the circadian changes of signaling pathways in chicken pinealocytes.

J Mol Neurosci 2008 Nov 1;36(1-3):220-6. Epub 2008 Jul 1.

Department of Surgical Research and Techniques, Medical Faculty, University of Pecs, Kodaly Z. u. 20, 7624, Pecs, Hungary.

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http://link.springer.com/content/pdf/10.1007/s12031-008-9112
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http://link.springer.com/10.1007/s12031-008-9112-4
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http://dx.doi.org/10.1007/s12031-008-9112-4DOI Listing
November 2008

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

Can J Public Health 2008 Jul-Aug;99(4):276-80

Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, BC.

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October 2008

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

Mol Genet Metab 2008 May 13;94(1):127-31. Epub 2008 Feb 13.

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

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http://dx.doi.org/10.1016/j.ymgme.2008.01.003DOI Listing
May 2008

Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts.

Am J Med Genet A 2007 Jun;143A(11):1231-5

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

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http://dx.doi.org/10.1002/ajmg.a.31734DOI Listing
June 2007

Vitrification of bovine oocytes after treatment with cholesterol-loaded methyl-beta-cyclodextrin.

Theriogenology 2006 Sep 18;66(4):1026-33. Epub 2006 Apr 18.

Animal Reproduction and Biotechnology Laboratory, Colorado State University, Fort Collins, CO 80523-1683, USA.

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http://dx.doi.org/10.1016/j.theriogenology.2006.03.004DOI Listing
September 2006

A simplified biopsy method for precompacted mouse embryos: a technical report.

Acta Vet Hung 2002 ;50(4):469-79

Agricultural Biotechnology Centre, H-2100 Gödölló, P.O. Box 411, Hungary.

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http://dx.doi.org/10.1556/AVet.50.2002.4.9DOI Listing
June 2003