Search Results - Parikh, Sumit

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  1. 1
    Treatment of Mitochondrial Disorders

    Treatment of Mitochondrial Disorders by Avula, Sreenivas, Parikh, Sumit, Demarest, Scott, Kurz, Jonathan, Gropman, Andrea

    Published 2014
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  2. 2
    A Modern Approach to the Treatment of Mitochondrial Disease

    A Modern Approach to the Treatment of Mitochondrial Disease by Parikh, Sumit, Saneto, Russell, Falk, Marni J., Anselm, Irina, Cohen, Bruce H., Haas, Richard

    Published 2009
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  3. 3
    A physician targeted intervention improves prescribing in chronic heart failure in general medical units

    A physician targeted intervention improves prescribing in chronic heart failure in general medical units by Chua, Chong Chyn, Hutchinson, Anastasia, Tacey, Mark, Parikh, Sumit, Lim, Wen Kwang, Aboltins, Craig

    Published 2018
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  4. 4
    Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery

    Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery by Karaa, Amel, Goldstein, Amy, Balcells, Cristy, Mann, Kira, Stanley, Laura, Yeske, Philip E., Parikh, Sumit

    Published 2019
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  5. 5
    Relationship between health-related quality of life, comorbidities and acute health care utilisation, in adults with chronic conditions

    Relationship between health-related quality of life, comorbidities and acute health care utilisation, in adults with chronic conditions by Hutchinson, Anastasia F., Graco, Marnie, Rasekaba, Tshepo Mokuedi, Parikh, Sumit, Berlowitz, David John, Lim, Wen Kwang

    Published 2015
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  6. 6
    Mitochondrial Disease Patients’ Perception of Dietary Supplements’ Use

    Mitochondrial Disease Patients’ Perception of Dietary Supplements’ Use by Karaa, Amel, Kriger, Joshua, Grier, Johnston, Holbert, Amy, Thompson, John L.P, Parikh, Sumit, Hirano, Michio

    Published 2016
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  7. 7
    Development and Validation of Objective, Quantitative, Eye Tracking-Based Measures of Autism Risk and Symptom Levels

    Development and Validation of Objective, Quantitative, Eye Tracking-Based Measures of Autism Risk and Symptom Levels by Frazier, Thomas W., Klingemier, Eric W., Parikh, Sumit, Speer, Leslie, Strauss, Mark S., Eng, Charis, Hardan, Antonio Y., Youngstrom, Eric A.

    Published 2018
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  8. 8
    Brain Morphological Abnormalities in Children with Cyclin-Dependent Kinase-Like 5 Deficiency Disorder

    Brain Morphological Abnormalities in Children with Cyclin-Dependent Kinase-Like 5 Deficiency Disorder by Tang, Yingying, Wang, Zhong Irene, Sarwar, Shaheera, Choi, Joon Yul, Wang, Shan, Zhang, Xiaoming, Parikh, Sumit, Moosa, Ahsan N, Pestana-Knight, Elia

    Published 2021
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  9. 9
    The In-Depth Evaluation of Suspected Mitochondrial Disease: The Mitochondrial Medicine Society's Committee on Diagnosis

    The In-Depth Evaluation of Suspected Mitochondrial Disease: The Mitochondrial Medicine Society's Committee on Diagnosis by Haas, Richard H., Parikh, Sumit, Falk, Marni J., Saneto, Russell P., Wolf, Nicole I., Darin, Niklas, Wong, Lee-Jun, Cohen, Bruce H., Naviaux, Robert K.

    Published 2008
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  10. 10
    Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

    Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH by Neill, Nicholas J., Ballif, Blake C., Lamb, Allen N., Parikh, Sumit, Ravnan, J. Britt, Schultz, Roger A., Torchia, Beth S., Rosenfeld, Jill A., Shaffer, Lisa G.

    Published 2011
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  11. 11
    Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

    Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop by Koene, Saskia, van Bon, Lara, Bertini, Enrico, Jimenez-Moreno, Cecilia, van der Giessen, Lianne, de Groot, Imelda, McFarland, Robert, Parikh, Sumit, Rahman, Shamima, Wood, Michelle, Zeman, Jiri, Janssen, Anjo, Smeitink, Jan

    Published 2018
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  12. 12
    NEUROTRANSMITTER ABNORMALITIES AND RESPONSE TO SUPPLEMENTATION IN SPG11

    NEUROTRANSMITTER ABNORMALITIES AND RESPONSE TO SUPPLEMENTATION IN SPG11 by Vanderver, Adeline, Tonduti, Davide, Auerbach, Sarah, Schmidt, Johanna L., Parikh, Sumit, Gowans, Gordon C., Jackson, Kelly E., Brock, Pamela L., Patterson, Marc, Nehrebecky, Michelle, Godfrey, Rena, Zein, Wadih M., Gahl, William, Toro, Camilo

    Published 2012
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  13. 13
    Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

    Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis by Weston, Kellan P., Gao, Xiaoyi, Zhao, Jinghan, Kim, Kwang-Soo, Maloney, Susan E., Gotoff, Jill, Parikh, Sumit, Leu, Yen-Chen, Wu, Kuen-Phon, Shinawi, Marwan, Steimel, Joshua P., Harrison, Joseph S., Yi, Jason J.

    Published 2021
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  14. 14
    CDKL5 Deficiency Disorder: Relationship between genotype, epilepsy, cortical visual impairment and development.

    CDKL5 Deficiency Disorder: Relationship between genotype, epilepsy, cortical visual impairment and development. by Demarest, Scott T., Olson, Heather E., Moss, Angela, Pestana-Knight, Elia, Zhang, Xiaoming, Parikh, Sumit, Swanson, Lindsay C., Riley, Katherine D., Bazin, Grace A., Angione, Katie, Niestroj, Lisa-Marie, Lal, Dennis, Juarez-Colunga, Elizabeth, Benke, Tim A.

    Published 2019
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  15. 15
    Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

    Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and... by Bedoyan, Jirair K., Hage, Rosemary, Shin, Ha Kyung, Linard, Sharon, Ferren, Edwin, Ducich, Nicole, Wilson, Kirkland, Lehman, April, Schillaci, Lori‐Anne, Manickam, Kandamurugu, Mori, Mari, Bartholomew, Dennis, DeBrosse, Suzanne, Cohen, Bruce, Parikh, Sumit, Kerr, Douglas

    Published 2020
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  16. 16
    Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor

    Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor by Webb, Bryn D., Evans, Anthony, Naidich, Thomas P., Bird, Lynne, Parikh, Sumit, Garcia, Meilin Fernandez, Henderson, Lindsay B., Millan, Francisca, Si, Yue, Brennand, Kristen J., Hung, Peter, Rucker, Janet C., Wheeler, Patricia G., Schadt, Eric E.

    Published 2021
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  17. 17
    Development of an Objective Autism Risk Index Using Remote Eye Tracking

    Development of an Objective Autism Risk Index Using Remote Eye Tracking by Frazier, Thomas W., Klingemier, Eric W., Beukemann, Mary, Speer, Leslie, Markowitz, Leslie, Parikh, Sumit, Wexberg, Steven, Giuliano, Kimberly, Schulte, Elaine, Delahunty, Carol, Ahuja, Veena, Eng, Charis, Manos, Michael J., Hardan, Antonio Y., Youngstrom, Eric A., Strauss, Mark S.

    Published 2016
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  18. 18
    A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

    A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies by Parikh, Sumit, Bernard, Geneviève, Leventer, Richard J., van der Knaap, Marjo S., van Hove, Johan, Pizzino, Amy, McNeill, Nathan H., Helman, Guy, Simons, Cas, Schmidt, Johanna L., Rizzo, William B., Patterson, Marc C., Taft, Ryan J., Vanderver, Adeline

    Published 2014
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  19. 19
    Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

    Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease by Karaa, Amel, MacMullen, Laura E., Campbell, John C., Christodoulou, John, Cohen, Bruce H., Klopstock, Thomas, Koga, Yasutoshi, Lamperti, Costanza, van Maanen, Rob, McFarland, Robert, Parikh, Sumit, Rahman, Shamima, Scaglia, Fernando, Sherman, Alexander V., Yeske, Philip, Falk, Marni J.

    Published 2021
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  20. 20
    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation by Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne DG, Roney, Erin K, Smith, Janice L, Cheung, Sau W, Li, Wei, Neilson, Joel R, Schaaf, Christian P, Zoghbi, Huda Y

    Published 2015
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