Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012
Roth, Jonathan, MD, Roach, E. Steve, MD, Bartels, Ute, MD, Jóźwiak, Sergiusz, MD, Koenig, Mary Kay, MD, Weiner, Howard L., MD, Franz, David N., MD, Wang, Henry Z., MD
Published in Pediatric neurology (01.12.2013)
Published in Pediatric neurology (01.12.2013)
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Journal Article
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts
Neves, Renata, De Dios Perez, Blanca, Panek, Rafal, Jagani, Sumit, Wilne, Sophie, Bhatt, Jayesh M., Caputi, Caterina, Cirillo, Emilia, Coman, David J., Dückers, Gregor, Gilbert, Donald L., Kay Koenig, Mary, Mansour, Lobna, McDermott, Elizabeth, Pauni, Micaela, Pignata, Claudio, Perlman, Susan L., Porras, Oscar, Betina Porto, Mariela, Schon, Katherine, Soler‐Palacin, Pere, Nick Russo, Sam, Takagi, Masatoshi, Tischkowitz, Marc, Wainwright, Claire, Dandapani, Madhumita, Glazebrook, Cristine, Suri, Mohnish, Whitehouse, William P., Dineen, Robert A.
Published in Cancer medicine (Malden, MA) (01.07.2023)
Published in Cancer medicine (Malden, MA) (01.07.2023)
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Journal Article
Rapamycin reduces seizure frequency in tuberous sclerosis complex
Muncy, Jennifer, Butler, Ian J, Koenig, Mary Kay
Published in Journal of child neurology (01.04.2009)
Published in Journal of child neurology (01.04.2009)
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Journal Article
Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism
Soler-Alfonso, Claudia, MD, Enns, Gregory M., MB, ChB, Koenig, Mary Kay, MD, Saavedra, Heather, RD, LD, Bonfante-Mejia, Eliana, MD, Northrup, Hope, MD
Published in Pediatric neurology (01.03.2015)
Published in Pediatric neurology (01.03.2015)
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Journal Article
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell, Anselm, Irina, Cohen, Bruce H., Falk, Marni J., Greene, Carol, Gropman, Andrea L., Haas, Richard, Hirano, Michio, Morgan, Phil, Sims, Katherine, Tarnopolsky, Mark, Van Hove, Johan L.K., Wolfe, Lynne, DiMauro, Salvatore
Published in Genetics in medicine (01.09.2015)
Published in Genetics in medicine (01.09.2015)
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Journal Article
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Parikh, Sumit, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Anselm, Irina, Brunel-Guitton, Catherine, Christodoulou, John, Cohen, Bruce H, Dimmock, David, Enns, Gregory M, Falk, Marni J, Feigenbaum, Annette, Frye, Richard E, Ganesh, Jaya, Griesemer, David, Haas, Richard, Horvath, Rita, Korson, Mark, Kruer, Michael C, Mancuso, Michelangelo, McCormack, Shana, Raboisson, Marie Josee, Reimschisel, Tyler, Salvarinova, Ramona, Saneto, Russell P, Scaglia, Fernando, Shoffner, John, Stacpoole, Peter W, Sue, Carolyn M, Tarnopolsky, Mark, Van Karnebeek, Clara, Wolfe, Lynne A, Cunningham, Zarazuela Zolkipli, Rahman, Shamima, Chinnery, Patrick F
Published in Genetics in medicine (01.12.2017)
Published in Genetics in medicine (01.12.2017)
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Journal Article
Adult phenotype of KCNQ2 encephalopathy
Boets, Stephanie, Johannesen, Katrine M, Destree, Anne, Manti, Filippo, Ramantani, Georgia, Lesca, Gaetan, Vercueil, Laurent, Koenig, Mary Kay, Striano, Pasquale, Møller, Rikke Steensbjerre, Cooper, Edward, Weckhuysen, Sarah
Published in Journal of medical genetics (01.06.2022)
Published in Journal of medical genetics (01.06.2022)
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Journal Article
Corpus callosotomy: A palliative therapeutic technique may help identify resectable epileptogenic foci
Clarke, Dave F, Wheless, James W, Chacon, Monica M, Breier, Joshua, Koenig, Mary-Kay, McManis, Mark, Castillo, Edward, Baumgartner, James E
Published in Seizure (London, England) (01.09.2007)
Published in Seizure (London, England) (01.09.2007)
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Journal Article
A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome
Striano, Pasquale, Auvin, Stéphane, Collins, Abigail, Horvath, Rita, Scheffer, Ingrid E., Tzadok, Michal, Miller, Ian, Kay Koenig, Mary, Lacy, Adrian, Davis, Ronald, Garcia‐Cazorla, Angela, Saneto, Russell P., Brandabur, Melanie, Blair, Susan, Koutsoukos, Tony, De Vivo, Darryl
Published in Epilepsia (Copenhagen) (01.07.2022)
Published in Epilepsia (Copenhagen) (01.07.2022)
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Journal Article
Validation of the Index for Facial Angiofibromas: A new scoring tool to assess facial angiofibromas in the tuberous sclerosis complex
Dill, Patricia Elsa, Bessis, Didier, Guidi, Beatrice, Hadj-Rabia, Smail, Itin, Peter, Koenig, Mary Kay, Moreno-Artero, Ester, Erlanger, Tobias E., Cattaneo, Marco, Weber, Peter, Wataya-Kaneda, Mari
Published in Journal of the American Academy of Dermatology (01.12.2022)
Published in Journal of the American Academy of Dermatology (01.12.2022)
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Journal Article
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
Parikh, Sumit, Karaa, Amel, Goldstein, Amy, Bertini, Enrico Silvio, Chinnery, Patrick F, Christodoulou, John, Cohen, Bruce H, Davis, Ryan L, Falk, Marni J, Fratter, Carl, Horvath, Rita, Koenig, Mary Kay, Mancuso, Michaelangelo, McCormack, Shana, McCormick, Elizabeth M, McFarland, Robert, Nesbitt, Victoria, Schiff, Manuel, Steele, Hannah, Stockler, Silvia, Sue, Carolyn, Tarnopolsky, Mark, Thorburn, David R, Vockley, Jerry, Rahman, Shamima
Published in Journal of medical genetics (01.03.2019)
Published in Journal of medical genetics (01.03.2019)
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Journal Article
Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex
Koenig, Mary Kay, Butler, Ian J, Northrup, Hope
Published in Journal of child neurology (01.10.2008)
Published in Journal of child neurology (01.10.2008)
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Journal Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
Zambonin, Jessica L, Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B, Frazer, Lee M, Geraghty, Michael T, Harper, Amy D, Jones, Julie R, Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R, Gibbons, Melissa, Collins, Abigail, Fogel, Brent L, Dudding-Byth, Tracy, Boycott, Kym M
Published in Orphanet journal of rare diseases (28.06.2017)
Published in Orphanet journal of rare diseases (28.06.2017)
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Journal Article
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
Saneto, Russell P, Lee, Inn-Chi, Koenig, Mary Kay, Bao, Xinhua, Weng, Shao-Wen, Naviaux, Robert K, Wong, Lee-Jun C
Published in Seizure (London, England) (01.04.2010)
Published in Seizure (London, England) (01.04.2010)
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Journal Article
A new pathogenic POLG variant
Nicholas Russo, S., Shah, Ekta G., Copeland, William C., Koenig, Mary Kay
Published in Molecular genetics and metabolism reports (01.09.2022)
Published in Molecular genetics and metabolism reports (01.09.2022)
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Journal Article
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases
Koenig, Mary Kay, Russo, Sam Nick, McBride, Kim L., Bjornsson, Hans Tomas, Gunnarsdottir, Brynja Bjork, Goldstein, Amy, Falk, Scott A.
Published in JIMD reports (01.01.2023)
Published in JIMD reports (01.01.2023)
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Journal Article
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results
Capal, Jamie K., Ritter, David M., Franz, David Neal, Griffith, Molly, Currans, Kristn, Kent, Bridget, Martina Bebin, E., Northrup, Hope, Koenig, Mary Kay, Mizuno, Tomoyuki, Vinks, Alexander A., Galandi, Stephanie L., Zhang, Wujuan, Setchell, Kenneth D.R., Kremer, Kelly M., Prada, Carlos M., Greiner, Hansel M., Holland‐Bouley, Katherine, Horn, Paul S., Krueger, Darcy A.
Published in Annals of the Child Neurology Society (01.06.2024)
Published in Annals of the Child Neurology Society (01.06.2024)
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