Mary Kay Koenig

Mary Kay Koenig

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Mary Kay Koenig

Mary Kay Koenig

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Expanding the Phenotypic Spectrum of CACNA1H Mutations.

Pediatr Neurol 2019 Apr 19;93:50-55. Epub 2018 Dec 19.

McGovern Medical School, UTHealth, Mitochondrial Center of Excellence, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.11.017DOI Listing
April 2019

Vulnerability of pediatric patients with mitochondrial disease to vaccine-preventable diseases.

J Allergy Clin Immunol Pract 2019 Sep - Oct;7(7):2415-2418.e3. Epub 2019 Apr 5.

Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.03.046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6733614PMC
April 2019

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Neurol Genet 2019 Feb 24;5(1):e305. Epub 2019 Jan 24.

Department of Human Genetics (B.N., Q.S.P.), Graduate School of Public Health, University of Pittsburgh; Department of Medical Sciences (E.G., A.B.), University of Torino, Italy; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Medical Genetics (A.L.), British Columbia Children's Hospital, Vancouver, Canada; Department of Genome Sciences (M. Spielmann), University of Washington, Seattle; Department of Pediatrics (M.K.K., R.A., M.K.), McGovern Medical School, University of Texas, Houston; Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, Rochester, MN; Department of Pathology (M.A.), King Abdulaziz University, Jeddah, Saudi Arabia; Department of Medical Imaging (M. Sharma), Western University, London, Canada; Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada; Office of the Clinical Director (W.A.G., C.T.), NHGRI; and NIH Undiagnosed Diseases Program (W.A.G., C.T.), Office of the Director, NIH, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384018PMC
February 2019

Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies.

J Genet Couns 2018 02 13;27(1):169-176. Epub 2017 Aug 13.

Genetic Counseling Program, The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.

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http://dx.doi.org/10.1007/s10897-017-0137-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794801PMC
February 2018

Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.

JIMD Rep 2019 27;43:13-17. Epub 2018 Feb 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1007/8904_2018_94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323032PMC
February 2018

Reply to the Letter to the Editor by Josef Finsterer and Sinda Zarrouk-Mahjoub.

Pediatr Neurol 2018 01 21;78:e11. Epub 2017 Sep 21.

University of Texas Health Science Center at Houston, Mitochondrial Center of Excellence, Division of Child and Adolescent Neurology, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.011DOI Listing
January 2018

Involvement of Cerebellum in Leigh Syndrome: Case Report and Review of the Literature.

Pediatr Neurol 2017 Sep 19;74:97-99. Epub 2017 May 19.

Division of Child and Adolescent Neurology, Mitochondrial Center of Excellence, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.008DOI Listing
September 2017

Phenotype of GABA-transaminase deficiency.

Neurology 2017 May 14;88(20):1919-1924. Epub 2017 Apr 14.

From Child and Adolescent Neurology (M.K.K.), University of Texas Medical School, Houston; Neurology (R.H., P.L.P.), Boston Children's Hospital, Harvard Medical School, MA; Child Neurology (J.J.R., W.C., J.B., C.A.C.), Columbia University School of Medicine, New York, NY; Neurology (K.I., M.T.), Kanagawa Children's Medical Center, Yokohama; Pediatrics (H.O.), Jichi Medical School, Tochigi, Japan; Experimental and Systems Pharmacology (K.M.G.), Washington State University, Spokane; and Molecular and Human Genetics (P.E.B.), Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1212/WNL.0000000000003936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444310PMC
May 2017

Mitochondrial Disorder Aggravated by Metoprolol.

Case Rep Pediatr 2016 20;2016:7869174. Epub 2016 Oct 20.

Department of Pediatrics, University of Texas Medical School at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1155/2016/7869174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093265PMC
October 2016

Nitric Oxide Deficiency Triggering Strokelike Episodes-Reply.

Authors:
Mary Kay Koenig

JAMA Neurol 2016 08;73(8):1030

The University of Texas Medical School at Houston.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2016.1649DOI Listing
August 2016

Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.

JAMA Neurol 2016 May;73(5):591-4

Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1001/jamaneurol.2015.5072DOI Listing
May 2016

The neuroimaging of Leigh syndrome: case series and review of the literature.

Pediatr Radiol 2016 Apr 6;46(4):443-51. Epub 2016 Jan 6.

Department of Diagnostic and Interventional Imaging, The University of Texas Medical School at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1007/s00247-015-3523-5DOI Listing
April 2016

Sleep disordered breathing in children with mitochondrial disease.

Pulm Med 2014 23;2014:467576. Epub 2014 Dec 23.

Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA ; Memorial Hermann Memorial City Hospital, Pediatric Sleep Center, Houston, TX 77030, USA.

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http://dx.doi.org/10.1155/2014/467576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4284925PMC
June 2015

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.

Pediatr Neurol 2015 Mar 7;52(3):361-5. Epub 2014 Nov 7.

Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.10.023DOI Listing
March 2015

Cardiac manifestations of mitochondrial disorders.

Tex Heart Inst J 2013 ;40(5):635-6

Texas Heart Institute, Houston, Texas (Meyers) Michigan State University, Flint, Michigan (Basha) The University of Texas Medical School at Houston, Houston, Texas (Koenig).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853826PMC
October 2014

Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.

Tex Heart Inst J 2013 ;40(4):385-94

Advanced Heart Failure Program (Dr. Meyers), Texas Heart Institute, Houston, Texas 77030; Department of Internal Medicine (Dr. Basha), Hurley Medical Center, Michigan State University, Flint, Michigan 48503; and Mitochondrial Disease Center (Dr. Koenig), Department of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas Medical School at Houston, Houston, Texas 77030.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783139PMC
May 2014

Seizure semiology and EEG findings in mitochondrial diseases.

Epilepsia 2014 May 7;55(5):707-12. Epub 2014 Mar 7.

Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Health Science Center, Houston, Texas, U.S.A.

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http://dx.doi.org/10.1111/epi.12570DOI Listing
May 2014

Self-reported reproductive health in women with tuberous sclerosis complex.

Genet Med 2013 Dec 9;15(12):966-71. Epub 2013 May 9.

1] Genetic Counseling Program, Graduate School of Biomedical Science, University of Texas Health Science Center at Houston, Houston, Texas, USA [2] Current address: Center for Personalized Healthcare, Cleveland Clinic, Cleveland, Ohio, USA (E.K.G.) Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA (M.J.G.).

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http://dx.doi.org/10.1038/gim.2013.60DOI Listing
December 2013

Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012.

Pediatr Neurol 2013 Dec 15;49(6):439-44. Epub 2013 Oct 15.

Department of Pediatric Neurosurgery, Dana Children's Hospital, Tel-Aviv Medical Center, Tel-Aviv, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994130054
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http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.017DOI Listing
December 2013

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management.

Mitochondrion 2013 Nov 21;13(6):681-7. Epub 2013 Sep 21.

Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2013.09.003DOI Listing
November 2013

Decreased exhaled nitric oxide levels in patients with mitochondrial disorders.

Open Respir Med J 2013 26;7:67-70. Epub 2013 Jul 26.

University of Texas Health Science Center at Houston (UTHealth), School of Medicine, Department of Pediatric Pulmonary, Houston, Texas, USA.

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http://dx.doi.org/10.2174/1874306401307010067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3735920PMC
August 2013

Friedreich-like ataxia as an initial manifestation of mitochondrial DNA 8344A>G mutation.

J Child Neurol 2012 Aug 12;27(8):1056-8. Epub 2012 Jan 12.

Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Health Science Center, Houston, TX, USA.

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http://dx.doi.org/10.1177/0883073811431012DOI Listing
August 2012

Impaired gastric emptying and small bowel transit in children with mitochondrial disorders.

J Pediatr Gastroenterol Nutr 2012 Aug;55(2):194-9

Department of Pediatrics, University of Texas Health Science Center at Houston Medical School, Houston, TX 77030, USA.

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http://dx.doi.org/10.1097/MPG.0b013e3182514805DOI Listing
August 2012

Secondary erythromelalgia successfully treated with intravenous immunoglobulin.

J Child Neurol 2012 Jul 7;27(7):922-3. Epub 2011 Dec 7.

Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas Medical School at Houston, Houston, TX 77030, USA.

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http://dx.doi.org/10.1177/0883073811427784DOI Listing
July 2012

Glucose transporter type I deficiency causing mitochondrial dysfunction.

J Child Neurol 2012 Jun 7;27(6):796-8. Epub 2011 Dec 7.

Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX, USA.

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http://dx.doi.org/10.1177/0883073811426503DOI Listing
June 2012

Adult-onset cerebral folate deficiency.

Arch Neurol 2012 Jun;69(6):778-9

Departments of Pediatrics and Neuro-oncology, MD Anderson Cancer Center, University of Texas Medical School at Houston, Houston, TX 77030, USA.

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http://dx.doi.org/10.1001/archneurol.2011.3036DOI Listing
June 2012

Incidence of papilledema and obesity in children diagnosed with idiopathic ''benign'' intracranial hypertension: case series and review.

J Child Neurol 2010 Nov 31;25(11):1389-92. Epub 2010 Mar 31.

The University of Texas Medical School at Houston, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1177/0883073810364853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099426PMC
November 2010

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

Seizure 2010 Apr 6;19(3):140-6. Epub 2010 Feb 6.

Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1016/j.seizure.2010.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099441PMC
April 2010

Rapamycin reduces seizure frequency in tuberous sclerosis complex.

J Child Neurol 2009 Apr 16;24(4):477. Epub 2009 Jan 16.

The University of Texas Health Science Center Houston, Texas, USA.

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http://dx.doi.org/10.1177/0883073808324535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072696PMC
April 2009

Central nervous system complications of blastic hyperleukocytosis in childhood acute lymphoblastic leukemia: diagnostic and prognostic implications.

J Child Neurol 2008 Nov;23(11):1347-52

Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX 77030, USA.

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http://journals.sagepub.com/doi/10.1177/0883073808318201
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http://dx.doi.org/10.1177/0883073808318201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099428PMC
November 2008

Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex.

J Child Neurol 2008 Oct;23(10):1238-9

Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, Texas, USA.

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http://dx.doi.org/10.1177/0883073808321764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072698PMC
October 2008

Presentation and diagnosis of mitochondrial disorders in children.

Authors:
Mary Kay Koenig

Pediatr Neurol 2008 May;38(5):305-13

Department of Pediatrics and Department of Neurology, University of Texas Health Science Center, 6431 Fannin St., Houston, TX 77030, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940700586
Publisher Site
http://dx.doi.org/10.1016/j.pediatrneurol.2007.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099432PMC
May 2008

Juvenile onset central nervous system folate deficiency and rheumatoid arthritis.

J Child Neurol 2008 Jan 3;23(1):106-7. Epub 2007 Dec 3.

University of Texas Medical School at Houston, TX 77030, USA.

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http://dx.doi.org/10.1177/0883073807307986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072705PMC
January 2008

Corpus callosotomy: a palliative therapeutic technique may help identify resectable epileptogenic foci.

Seizure 2007 Sep 22;16(6):545-53. Epub 2007 May 22.

Department of Pediatrics, Division of Pediatric Neurology, Le Bonheur Comprehensive Epilepsy Program, University of Tennessee Health Science Center, Memphis, TN 38105, USA.

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http://dx.doi.org/10.1016/j.seizure.2007.04.004DOI Listing
September 2007