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Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial.
Published in:
2018
By:
- Koenig, Mary Kay;
- Bell, Cynthia S.;
- Hebert, Adelaide A.;
- Roberson, Joan;
- Samuels, Joshua A.;
- Slopis, John M.;
- Tate, Patti;
- Northrup, Hope;
- TREATMENT Trial Collaborators
Publication type:
journal article
Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial.
Published in:
Drugs in R&D, 2018, v. 18, n. 4, p. 295, doi. 10.1007/s40268-018-0248-6
By:
- Slopis, John M.;
- Arevalo, Octavio;
- Bell, Cynthia S.;
- Hebert, Adelaide A.;
- Northrup, Hope;
- Riascos, Roy F.;
- Samuels, Joshua A.;
- Smith, Keri C.;
- Tate, Patti;
- Koenig, Mary Kay
Publication type:
Article
Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies.
Published in:
Journal of Genetic Counseling, 2018, v. 27, n. 1, p. 169, doi. 10.1007/s10897-017-0137-0
By:
- Wagner, Victoria F.;
- Northrup, Hope;
- Hashmi, S. Shahrukh;
- Nguyen, Joanne M.;
- Koenig, Mary Kay;
- Davis, Jessica M.
Publication type:
Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Published in:
2017
By:
- Zambonin, Jessica L.;
- Bellomo, Allison;
- Hilla Ben-Pazi;
- 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.
Publication type:
journal article
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Published in:
2022
By:
- Guerrini, Renzo;
- Mei, Davide;
- Kerti-Szigeti, Katalin;
- Pepe, Sara;
- Koenig, Mary Kay;
- Allmen, Gretchen Von;
- Cho, Megan T;
- McDonald, Kimberly;
- Baker, Janice;
- Bhambhani, Vikas;
- Powis, Zöe;
- Rodan, Lance;
- Nabbout, Rima;
- Barcia, Giulia;
- Rosenfeld, Jill A;
- Bacino, Carlos A;
- Mignot, Cyril;
- Power, Lillian H;
- Harris, Catharine J;
- Marjanovic, Dragan
Publication type:
journal article
Seizure semiology and EEG findings in mitochondrial diseases.
Published in:
Epilepsia (Series 4), 2014, v. 55, n. 5, p. 707, doi. 10.1111/epi.12570
By:
- Chevallier, Justyna A.;
- Von Allmen, Gretchen K.;
- Koenig, Mary Kay
Publication type:
Article
Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.
Published in:
Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X21991382
By:
- Russo, Sam Nicholas;
- Goldstein, Amy;
- Karaa, Amel;
- Koenig, Mary Kay;
- Walker, Melissa
Publication type:
Article
Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.
Published in:
Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X21991382
By:
- Russo, Sam Nicholas;
- Goldstein, Amy;
- Karaa, Amel;
- Koenig, Mary Kay;
- Walker, Melissa
Publication type:
Article
Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1296
By:
- Mowrey, Kate;
- Koenig, Mary Kay;
- Szabo, Charles A.;
- Samuels, Joshua;
- Mulligan, Shannon;
- Pearson, Deborah A.;
- Northrup, Hope
Publication type:
Article
Cardiac Manifestations of Mitochondrial Disorders.
Published in:
2013
By:
- Meyers, Deborah E.;
- Basha, Haseeb Ilias;
- Koenig, Mary Kay
Publication type:
Letter
Mitochondrial Cardiomyopathy.
Published in:
Texas Heart Institute Journal, 2013, v. 40, n. 4, p. 385
By:
- Meyers, Deborah E.;
- Basha, Haseeb Ilias;
- Koenig, Mary Kay
Publication type:
Article
The neuroimaging of Leigh syndrome: case series and review of the literature.
Published in:
2016
By:
- Bonfante, Eliana;
- Koenig, Mary;
- Adejumo, Rahmat;
- Perinjelil, Vinu;
- Riascos, Roy;
- Koenig, Mary Kay;
- Adejumo, Rahmat B;
- Riascos, Roy F
Publication type:
journal article
Mitochondrial Disorder Aggravated by Metoprolol.
Published in:
Case Reports in Pediatrics, 2016, p. 1, doi. 10.1155/2016/7869174
By:
- Samuels, Cheryl;
- Koenig, Mary Kay;
- Hernandez, Mariana;
- Yadav, Aravind;
- Mosquera, Ricardo A.
Publication type:
Article
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 65, doi. 10.1002/jmd2.12335
By:
- Koenig, Mary Kay;
- Russo, Sam Nick;
- McBride, Kim L.;
- Bjornsson, Hans Tomas;
- Gunnarsdottir, Brynja Bjork;
- Goldstein, Amy;
- Falk, Scott A.
Publication type:
Article
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts.
Published in:
Cancer Medicine, 2023, v. 12, n. 13, p. 14663, doi. 10.1002/cam4.6075
By:
- 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
Publication type:
Article
Nitric Oxide Deficiency Triggering Strokelike Episodes.
Published in:
JAMA Neurology, 2016, v. 73, n. 8, p. 1030, doi. 10.1001/jamaneurol.2016.1649
By:
- Koenig, Mary Kay
Publication type:
Article
Recommendations for the Management of Strokelike Episodes in PatientsWith Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
Published in:
JAMA Neurology, 2016, v. 73, n. 5, p. 591, doi. 10.1001/jamaneurol.2015.5072
By:
- Koenig, Mary Kay;
- Emrick, Lisa;
- Karaa, Amel;
- Korson, Mark;
- Scaglia, Fernando;
- Parikh, Sumit;
- Goldstein, Amy
Publication type:
Article
Sleep Disordered Breathing in Children with Mitochondrial Disease.
Published in:
Pulmonary Medicine, 2014, p. 1, doi. 10.1155/2014/467576
By:
- Mosquera, Ricardo A.;
- Koenig, Mary Kay;
- Adejumo, Rahmat B.;
- Chevallier, Justyna;
- Hashmi, S. Shahrukh;
- Mitchell, Sarah E.;
- Pacheco, Susan E.;
- Jon, Cindy
Publication type:
Article
A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 7, p. 1748, doi. 10.1111/epi.17263
By:
- 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
Publication type:
Article
Expanded‐access use of elamipretide in a patient with membrane protein‐associated neurodegeneration.
Published in:
2024
By:
- Patino, Jorge;
- Clearman, Anna Haertling;
- Miller, Lindsey;
- Koenig, Mary Kay
Publication type:
Case Study
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1263, doi. 10.1002/acn3.50822
By:
- Cameron, Jillian M.;
- Maljevic, Snezana;
- Nair, Umesh;
- Aung, Ye Htet;
- Cogné, Benjamin;
- Bézieau, Stéphane;
- Blair, Edward;
- Isidor, Bertrand;
- Zweier, Christiane;
- Reis, André;
- Koenig, Mary Kay;
- Maarup, Timothy;
- Sarco, Dean;
- Afenjar, Alexandra;
- Huq, A. H. M. Mahbubul;
- Kukolich, Mary;
- Billette de Villemeur, Thierry;
- Nava, Caroline;
- Héron, Bénédicte;
- Petrou, Steven
Publication type:
Article
Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.
Published in:
Annals of Neurology, 2024, v. 95, n. 1, p. 15, doi. 10.1002/ana.26778
By:
- Bebin, Elizabeth Martina;
- Peters, Jurriaan M.;
- Porter, Brenda E.;
- McPherson, Tarrant O.;
- O'Kelley, Sarah;
- Sahin, Mustafa;
- Taub, Katherine S.;
- Rajaraman, Rajsekar;
- Randle, Stephanie C.;
- McClintock, William M.;
- Koenig, Mary Kay;
- Frost, Mike D.;
- Northrup, Hope A.;
- Werner, Klaus;
- Nolan, Danielle A.;
- Wong, Michael;
- Krefting, Jessica L.;
- Biasini, Fred;
- Peri, Kalyani;
- Cutter, Gary
Publication type:
Article
Impaired gastric emptying and small bowel transit in children with mitochondrial disorders.
Published in:
2012
By:
- Bhardwaj J;
- Wan DQ;
- Koenig MK;
- Liu Y;
- Hashmi SS;
- Rhoads JM;
- Bhardwaj, Jatinder;
- Wan, David Q;
- Koenig, Mary Kay;
- Liu, Yuying;
- Hashmi, Syed Shahrukh;
- Rhoads, Jon Marc
Publication type:
journal article
Friedreich-Like Ataxia as an Initial Manifestation of Mitochondrial DNA 8344A>G Mutation.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 8, p. 1056, doi. 10.1177/0883073811431012
By:
- Chevallier, Justyna A.;
- Koenig, Mary Kay
Publication type:
Article
Secondary Erythromelalgia Successfully Treated With Intravenous Immunoglobulin.
Published in:
2012
By:
- Moody, Shadé;
- Pacheco, Susan;
- Butler, Ian J.;
- Koenig, Mary Kay
Publication type:
Case Study
Glucose Transporter Type I Deficiency Causing Mitochondrial Dysfunction.
Published in:
2012
By:
- Lankford, Jeremy;
- Butler, Ian J.;
- Koenig, Mary Kay
Publication type:
Case Study
Incidence of Papilledema and Obesity in Children Diagnosed With Idiopathic ‘‘Benign’’ Intracranial Hypertension: Case Series and Review.
Published in:
Journal of Child Neurology, 2010, v. 25, n. 11, p. 1389, doi. 10.1177/0883073810364853
By:
- Faz, Gabriel;
- Butler, Ian J.;
- Koenig, Mary Kay
Publication type:
Article
Rapamycin Reduces Seizure Frequency in Tuberous Sclerosis Complex.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 4, p. 477, doi. 10.1177/0883073808324535
By:
- Muncy, Jennifer;
- Butler, Ian J.;
- Koenig, Mary Kay
Publication type:
Article
Central Nervous System Complications of Blastic Hyperleukocytosis in Childhood Acute Lymphoblastic Leukemia: Diagnostic and Prognostic Implications.
Published in:
Journal of Child Neurology, 2008, v. 23, n. 11, p. 1347, doi. 10.1177/0883073808318201
By:
- Koenig, Mary Kay;
- Sitton, Clark W.;
- Min Wang;
- Slopis, John M.
Publication type:
Article
Regression of Subependymal Giant Cell Astrocytoma With Rapamycin in Tuberous Sclerosis Complex.
Published in:
Journal of Child Neurology, 2008, v. 23, n. 10, p. 1238, doi. 10.1177/0883073808321764
By:
- Koenig, Mary Kay;
- Butler, Ian J.;
- Northrup, Hope
Publication type:
Article
Juvenile Onset Central Nervous System Folate Deficiency and Rheumatoid Arthritis.
Published in:
Journal of Child Neurology, 2008, v. 23, n. 1, p. 106, doi. 10.1177/0883073807307986
By:
- Koenig, Mary Kay;
- Perez, Maria;
- Rothenberg, Sheldon;
- Butler, Ian J.
Publication type:
Article

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