Search Results - Rodan, Lance H.

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  1. 1
    N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels

    N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels by Rodan, Lance H., Berry, Gerard T.

    Published 2016
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  2. 2
    Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome

    Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome by Rodan, Lance H., Zak, Maria, Stavropoulos, James, Joseph-George, Ann M., Minassian, Berge A.

    Published 2016
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  3. 3
    L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome

    L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome by Rodan, Lance H., Wells, Greg D., Banks, Laura, Thompson, Sara, Schneiderman, Jane E., Tein, Ingrid

    Published 2015
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  4. 4
    The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

    The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases by Ebrahimi‐Fakhari, Darius, Hildebrandt, Clara, Davis, Peter E., Rodan, Lance H., Anselm, Irina, Bodamer, Olaf

    Published 2018
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  5. 5
    L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome

    L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) synd... by Rodan, Lance H., Poublanc, Julien, Fisher, Joseph A., Sobczyk, Olivia, Mikulis, David J., Tein, Ingrid

    Published 2020
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  6. 6
    A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

    A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene by Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

    Published 2016
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  7. 7
    A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

    A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene by Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

    Published 2016
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  8. 8
    VAC14 Gene‐Related Parkinsonism‐Dystonia With Response to Deep Brain Stimulation

    VAC14 Gene‐Related Parkinsonism‐Dystonia With Response to Deep Brain Stimulation by de Gusmao, Claudio M., Stone, Scellig, Waugh, Jeff L., Yang, Edward, Lenk, Guy M., Rodan, Lance H.

    Published 2019
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  9. 9
    Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female

    Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female by Rajabi, Farrah, Rodan, Lance H., Jonas, Maureen M., Soul, Janet S., Ullrich, Nicole J., Wessel, Ann, Waisbren, Susan E., Tan, Wen-Hann, Berry, Gerard T.

    Published 2017
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  10. 10
    5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

    5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination by Rodan, Lance H., Qi, Wanshu, Ducker, Gregory S., Demirbas, Didem, Laine, Regina, Yang, Edward, Walker, Melissa A., Eichler, Florian, Rabinowitz, Joshua D., Anselm, Irina, Berry, Gerard T.

    Published 2018
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  11. 11
    Polymicrogyria is associated with pathogenic variants in PTEN

    Polymicrogyria is associated with pathogenic variants in PTEN by Shao, Diane D., Achkar, Christelle M., Lai, Abbe, Srivastava, Siddharth, Doan, Ryan N., Rodan, Lance H., Chen, Allen Y., Poduri, Annapurna, Yang, Edward, Walsh, Christopher A.

    Published 2020
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  12. 12
    Systemic Manifestations in Pyridox(am)ine 5′-Phosphate Oxidase Deficiency

    Systemic Manifestations in Pyridox(am)ine 5′-Phosphate Oxidase Deficiency by Guerriero, Réjean M., Patel, Archana A., Walsh, Brian, Baumer, Fiona M., Shah, Ankoor S., Peters, Jurriaan M., Rodan, Lance H., Agrawal, Pankaj B., Pearl, Phillip L., Takeoka, Masanori

    Published 2017
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  13. 13
    Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

    Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis by Alecu, Julian E., Saffari, Afshin, Jumo, Hellen, Ziegler, Marvin, Strelko, Oleksandr, Brownstein, Catherine A., Gonzalez‐Heydrich, Joseph, Rodan, Lance H., Gorman, Mark P., Sahin, Mustafa, Ebrahimi‐Fakhari, Darius

    Published 2022
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  14. 14
    Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

    Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals by Wojcik, Monica H., Wierenga, Klaas J., Rodan, Lance H., Sahai, Inderneel, Ferdinandusse, Sacha, Genetti, Casie A., Towne, Meghan C., Peake, Roy W. A., James, Philip M., Beggs, Alan H., Brownstein, Catherine A., Berry, Gerard T., Agrawal, Pankaj B.

    Published 2017
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  15. 15
    Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

    Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies by Rodan, Lance H., Hauptman, Marissa, D’Gama, Alissa M., Qualls, Anita E., Cao, Siqi, Tuschl, Karin, Al-Jasmi, Fatma, Hertecant, Jozef, Hayflick, Susan J., Wessling-Resnick, Marianne, Yang, Edward T., Berry, Gerard T., Gropman, Andrea, Woolf, Alan D., Agrawal, Pankaj B.

    Published 2018
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  16. 16
    Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism

    Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism by Stergachis, Andrew B., Pujol-Giménez, Jonai, Gyimesi, Gergely, Fuster, Daniel, Albano, Giusppe, Troxler, Marina, Picker, Jonathan, Rosenberg, Paul A., Bergin, Ann, Peters, Jurriaan, Achkar, Christelle Moufawad El, Harini, Chellamani, Manzi, Shannon, Rotenberg, Alexander, Hediger, Matthias A., Rodan, Lance H.

    Published 2019
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  17. 17
    De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

    De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay by Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

    Published 2015
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  18. 18
    Expansion of phenotype and genotypic data in CRB2-related syndrome

    Expansion of phenotype and genotypic data in CRB2-related syndrome by Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M

    Published 2016
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  19. 19
    De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

    De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder by Dias, Caroline, Pfundt, Rolph, Kleefstra, Tjitske, Shuurs-Hoeijmakers, Janneke, Boon, Elles M J, van Hagen, Johanna M, Zwijnenburg, Petra, Weiss, Marjan M, Keren, Boris, Mignot, Cyril, Isapof, Arnaud, Weiss, Karin, Hershkovitz, Tova, Iascone, Maria, Maitz, Silvia, Feichtinger, René G, Kotzot, Dieter, Mayr, Johannes A, Ben-Omran, Tawfeg, Mahmoud, Laila, Pais, Lynn S, Walsh, Christopher A, Shashi, Vandana, Sullivan, Jennifer A, Stong, Nicholas, Lecoquierre, Francois, Guerrot, Anne-Marie, Charollais, Aude, Rodan, Lance H

    Published 2021
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  20. 20
    RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

    RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes by Brownstein, Catherine A., Smith, Richard S., Rodan, Lance H., Gorman, Mark P., Hojlo, Margaret A., Garvey, Emily A., Li, Jianqiao, Cabral, Kristin, Bowen, Joshua J., Rao, Abhijit S., Genetti, Casie A., Carroll, Devon, Deaso, Emma A., Agrawal, Pankaj B., Rosenfeld, Jill A., Bi, Weimin, Howe, Jennifer, Stavropoulos, Dimitri J., Hansen, Adam W., Hamoda, Hesham M., Pinard, Ferne, Caracansi, Annmarie, Walsh, Christopher A., D’Angelo, Eugene J., Beggs, Alan H., Zarrei, Mehdi, Gibbs, Richard A., Scherer, Stephen W., Glahn, David C., Gonzalez-Heydrich, Joseph

    Published 2021
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