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

Por Horvath, Gabriella, Opper, Balazs, Reglodi, Dora
Publicado no Int J Mol Sci (2019)

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells

Por Douiev, Liza, Sheffer, Ruth, Horvath, Gabriella, Saada, Ann
Publicado no Cells (2020)

Determining Ideal Balance Among Branched-Chain Amino Acids (BCAA) as a Proof of Concept Study in Healthy Children

Por Saleemani, Haneen, Elango, Rajavel, Horvath, Gabriella, Stockler, Sylvia
Publicado no Curr Dev Nutr (2020)

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

Por Reglodi, Dora, Illes, Anita, Opper, Balazs, Schafer, Eszter, Tamas, Andrea, Horvath, Gabriella
Publicado no Front Endocrinol (Lausanne) (2018)

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

Por Horvath, Gabriella, Sirrs, Sandra, Stockler, Sylvia, Salvarinova-Zivkovic, Ramona, Vallance, Hilary, Waters, Paula
Publicado em 2013

Salivary serotonin does not correlate with central serotonin turnover in adult phenylketonuria (PKU) patients

Por Leung, Joseph, Selvage, Caroline, Bosdet, Taryn, Branov, Jennifer, Rosen-Heath, Annie, Bishop, Carole, Sirrs, Sandra, Horvath, Gabriella
Publicado no Mol Genet Metab Rep (2018)

Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy

Por van Karnebeek, Clara, Horvath, Gabriella, Murphy, Tyler, Purtzki, Jacqueline, Bowden, Kristin, Sirrs, Sandra, Honey, Christopher R., Stockler, Sylvia
Publicado no JIMD Rep (2014)

Alzheimer’s Disease Mouse as a Model of Testis Degeneration

Por Szegeczki, Vince, Horváth, Gabriella, Perényi, Helga, Tamás, Andrea, Radák, Zsolt, Ábrahám, Dóra, Zákány, Róza, Reglodi, Dora, Juhász, Tamás
Publicado no Int J Mol Sci (2020)

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

Por Heimesaat, Markus M., Reifenberger, Gernot, Vicena, Viktoria, Illes, Anita, Horvath, Gabriella, Tamas, Andrea, Fulop, Balazs D., Bereswill, Stefan, Reglodi, Dora
Publicado no Eur J Microbiol Immunol (Bp) (2017)

Physical Activity Protects the Pathological Alterations of Alzheimer’s Disease Kidneys via the Activation of PACAP and BMP Signaling Pathways

Por Perényi, Helga, Szegeczki, Vince, Horváth, Gabriella, Hinnah, Barbara, Tamás, Andrea, Radák, Zsolt, Ábrahám, Dóra, Zákány, Róza, Reglodi, Dora, Juhász, Tamás
Publicado no Front Cell Neurosci (2020)

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

Por van Karnebeek, Clara D. M., Sayson, Bryan, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Horvath, Gabriella A., Ferreira, Carlos R.
Publicado no Front Neurol (2018)

Newborn Screening for MCAD Deficiency: Experience of the First Three Years in British Columbia, Canada

Por Horvath, Gabriella A., Davidson, A. G. F., Stockler-Ipsiroglu, Sylvia G., Lillquist, Yolanda P., Waters, Paula J., Olpin, S., Andresen, B. S., Palaty, Jan, Nelson, Judie, Vallance, Hilary
Publicado no Can J Public Health (2008)

Protective Effects of PACAP in Peripheral Organs

Por Toth, Denes, Szabo, Edina, Tamas, Andrea, Juhasz, Tamas, Horvath, Gabriella, Fabian, Eszter, Opper, Balazs, Szabo, Dora, Maugeri, Grazia, D'Amico, Agata G., D'Agata, Velia, Vicena, Viktoria, Reglodi, Dora
Publicado no Front Endocrinol (Lausanne) (2020)

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Por Demos, Michelle K, van Karnebeek, Clara DM, Ross, Colin JD, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven JM, Friedman, Jan M
Publicado em 2014

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

Por Tarailo‐Graovac, Maja, Zahir, Farah R., Zivkovic, Irena, Moksa, Michelle, Selby, Kathryn, Sinha, Sunita, Nislow, Corey, Stockler‐Ipsiroglu, Sylvia G., Sheffer, Ruth, Saada‐Reisch, Ann, Friedman, Jan M., van Karnebeek, Clara D. M., Horvath, Gabriella A.
Publicado no Mol Genet Genomic Med (2019)

Gain-of-function KCNJ6 mutation in a severe hyperkinetic movement disorder phenotype

Por Horvath, Gabriella A., Zhao, Yulin, Tarailo-Graovac, Maja, Boelman, Cyrus, Gill, Harinder, Shyr, Casper, Lee, James, Blydt-Hansen, Ingrid, Drögemöller, Britt I., Moreland, Jacqueline, Ross, Colin J., Wasserman, Wyeth W., Masotti, Andrea, Slesinger, Paul A., van Karnebeek, Clara D.M.
Publicado no Neuroscience (2018)

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Por Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Publicado no Mol Genet Metab Rep (2016)

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency

Por Al-Shekaili, Hilal H, Petkau, Terri L, Pena, Izabella, Lengyell, Tess C, Verhoeven-Duif, Nanda M, Ciapaite, Jolita, Bosma, Marjolein, van Faassen, Martijn, Kema, Ido P, Horvath, Gabriella, Ross, Colin, Simpson, Elizabeth M, Friedman, Jan M, van Karnebeek, Clara, Leavitt, Blair R
Publicado no Hum Mol Genet (2020)

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Por van Karnebeek, Clara D., Sly, William S., Ross, Colin J., Salvarinova, Ramona, Yaplito-Lee, Joy, Santra, Saikat, Shyr, Casper, Horvath, Gabriella A., Eydoux, Patrice, Lehman, Anna M., Bernard, Virginie, Newlove, Theresa, Ukpeh, Henry, Chakrapani, Anupam, Preece, Mary Anne, Ball, Sarah, Pitt, James, Vallance, Hilary D., Coulter-Mackie, Marion, Nguyen, Hien, Zhang, Lin-Hua, Bhavsar, Amit P., Sinclair, Graham, Waheed, Abdul, Wasserman, Wyeth W., Stockler-Ipsiroglu, Sylvia
Publicado em 2014

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Por Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B., Buerki, Sarah E., Evans, Daniel M., Toyota, Eric B., Boelman, Cyrus, Huh, Linda L., Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H., Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D. M., Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I., Nelson, Tanya N., Bolbocean, Corneliu, Connolly, Mary B., Farrer, Matthew J.
Publicado no Front Neurol (2019)