Resultados da busca - Sumit Parikh

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  1. 1
    Treatment of Mitochondrial Disorders

    Treatment of Mitochondrial Disorders por Sreenivas Avula, Sumit Parikh, Scott Demarest, Jonathan E. Kurz, Andrea Gropman

    Publicado em 2014
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  2. 2
    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 por Anastasia Hutchinson, Marnie Graco, Tshepo Rasekaba, Sumit Parikh, David J. Berlowitz, Wen Kwang Lim

    Publicado em 2015
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  3. 3
    A modern approach to the treatment of mitochondrial disease

    A modern approach to the treatment of mitochondrial disease por Sumit Parikh, Russell P. Saneto, Marni J. Falk, Irina Anselm, Bruce H. Cohen, Richard Haas

    Publicado em 2009
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  4. 4
    Development and Validation of Objective and Quantitative Eye Tracking−Based Measures of Autism Risk and Symptom Levels

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

    Publicado em 2018
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  5. 5
    The in-depth evaluation of suspected mitochondrial disease

    The in-depth evaluation of suspected mitochondrial disease por Richard Haas, Sumit Parikh, Marni J. Falk, Russell P. Saneto, Nicole I. Wolf, Niklas Darín, Lee-Jun Wong, Bruce H. Cohen, Robert K. Naviaux

    Publicado em 2008
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  6. 6
    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 por Nicholas J. Neill, Blake C. Ballif, Allen N. Lamb, Sumit Parikh, J. Britt Ravnan, Roger A. Schultz, Beth S. Torchia, Jill A. Rosenfeld, Lisa G. Shaffer

    Publicado em 2011
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  7. 7
    Pathogenic mechanism of recurrent mutations of <scp><i>SCN8A</i></scp> in epileptic encephalopathy

    Pathogenic mechanism of recurrent mutations of <scp><i>SCN8A</i></scp> in epileptic encephalopathy por Jacy L. Wagnon, Bryan S. Barker, James A. Hounshell, Charlotte A. Haaxma, Amy Shealy, Timothy Moss, Sumit Parikh, Ricka Messer, Manoj K. Patel, Miriam H. Meisler

    Publicado em 2015
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  8. 8
    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 por Sumit Parikh, Geneviève Bernard, Richard J. Leventer, Marjo S. van der Knaap, Johan Van Hove, Amy Pizzino, Nathan H. McNeill, Guy Helman, Cas Simons, Johanna Schmidt, William B. Rizzo, Marc C. Patterson, Ryan J. Taft, Adeline Vanderver

    Publicado em 2014
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  9. 9
    Development of an Objective Autism Risk Index Using Remote Eye Tracking

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

    Publicado em 2016
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  10. 10
    CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

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

    Publicado em 2019
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  11. 11
    Early-onset phenotype of bi-allelic <i>GRN</i> mutations

    Early-onset phenotype of bi-allelic <i>GRN</i> mutations por Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C. França, Birgit Assmann, Matias Wagner, Laura Canafoglia, Silvana Franceschetti, Giacomina Rossi, Isabel Santana, Carmo Macário, Maria Rosário Almeida, Mahesh Kamate, Sumit Parikh, Houda Zghal Elloumi, David Murphy, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden

    Publicado em 2020
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  12. 12
    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 por Vincenzo A. Gennarino, Callison E Alcott, Chun‐An Chen, Arindam Chaudhury, Madelyn A. Gillentine, Jill A. Rosenfeld, Sumit Parikh, James W. Wheless, Elizabeth Roeder, Dafne D. G. Horovitz, Erin K. Roney, Janice Smith, Sau Wai Cheung, Wei Li, Joel R. Neilson, Christian P. Schaaf, Huda Y. Zoghbi

    Publicado em 2015
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  13. 13
    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society por Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol L. Greene, Andrea Gropman, Richard Haas, Michio Hirano, Philip G. Morgan, Katherine B. Sims, Mark A. Tarnopolsky, Johan L.K. Van Hove, Lynne A. Wolfe, Salvatore DiMauro

    Publicado em 2014
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  14. 14
    Severity Assessment in CDKL5 Deficiency Disorder

    Severity Assessment in CDKL5 Deficiency Disorder por Scott Demarest, Elia M. Pestana-Knight, Heather E. Olson, Jenny Downs, Eric D. Marsh, Walter E. Kaufmann, Carol‐Anne Partridge, Helen Leonard, Femida Gwadry‐Sridhar, Katheryn Elibri Frame, J. Helen Cross, Richard Chin, Sumit Parikh, Axel Panzer, Judith Weisenberg, Karen Utley, Amanda Jaksha, Sam Amin, Omar Khwaja, Orrin Devinsky, Jeffrey L. Neul, Alan K. Percy, Tim A. Benke

    Publicado em 2019
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  15. 15
    Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

    Diagnosis of ‘possible’ mitochondrial disease: an existential crisis por Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Bertini, Patrick F. Chinnery, John Christodoulou, Bruce H. Cohen, Ryan L. Davis, Marni J. Falk, Carl Fratter, Rita Horváth, Mary Kay Koenig, M. Mancuso, Shana E. McCormack, Elizabeth M. McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah E. Steele, Silvia Stockler, Carolyn M. Sue, Mark A. Tarnopolsky, David R. Thorburn, Jerry Vockley, Shamima Rahman

    Publicado em 2019
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  16. 16
    Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells

    Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells por Caleb A. Lareau, Sonia M. Dubois, Frank A. Buquicchio, Yu-Hsin Hsieh, Kopal Garg, Pauline Kautz, Lena Nitsch, Samantha D. Praktiknjo, Patrick Maschmeyer, Jeffrey M. Verboon, Jacob C. Gutierrez, Yajie Yin, Evgenij Fiškin, Wendy Luo, Eleni P. Mimitou, Christoph Muus, Rhea Malhotra, Sumit Parikh, Mark D. Fleming, Lena Oevermann, Johannes H. Schulte, Cornelia Eckert, Anshul Kundaje, Peter Smibert, Santosha A. Vardhana, Ansuman T. Satpathy, Aviv Regev, Vijay G. Sankaran, Suneet Agarwal, Leif S. Ludwig

    Publicado em 2023
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  17. 17
    Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

    Nutritional interventions in primary mitochondrial disorders: Developing an evidence base por Kathryn Camp, Danuta Krotoski, Melissa A. Parisi, Katrina Gwinn, Bruce H. Cohen, Christine Cox, Gregory M. Enns, Marni J. Falk, Amy Goldstein, Rashmi Gopal-Srivastava, Gráinne S. Gorman, Stephen P. Hersh, Michio Hirano, Freddie Ann Hoffman, Amel Karaa, Erin MacLeod, Robert McFarland, Charles Mohan, Andrew E. Mulberg, Joanne Odenkirchen, Sumit Parikh, Patricia J. Rutherford, Shawne K. Suggs-Anderson, W.H. Wilson Tang, Jerry Vockley, Lynne A. Wolfe, Steven Yannicelli, Philip E. Yeske, Paul M. Coates

    Publicado em 2016
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  18. 18
    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society por Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel‐Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David A. Griesemer, Richard Haas, Rita Horváth, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana E. McCormack, Marie Josée Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John M. Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark A. Tarnopolsky, Clara van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery

    Publicado em 2017
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  19. 19
    Mitochondrial diseases in North America

    Mitochondrial diseases in North America por Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Haas, Johan L.K. Van Hove, Fernando Scaglia, Sumit Parikh, Jirair K. Bedoyan, Susanne D. DeBrosse, Ralitza H. Gavrilova, Russell P. Saneto, Gregory M. Enns, Peter W. Stacpoole, Jaya Ganesh, Austin Larson, Zarazuela Zolkipli‐Cunningham, Marni J. Falk, Amy Goldstein, Mark A. Tarnopolsky, Andrea Gropman, Kathryn Camp, Danuta Krotoski, Kristin Engelstad, Xiomara Q. Rosales, Joshua Kriger, Johnston Grier, Richard Buchsbaum, John L.P. Thompson, Michio Hirano

    Publicado em 2020
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  20. 20
    Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

    Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies por Laura Adang, Omar Sherbini, Laura J. Ball, Miriam Bloom, Anil Darbari, Hernán Amartino, Donna DiVito, Florian Eichler, Maria L. Escolar, Sarah Helen Evans, Ali Fatemi, Jamie L. Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan M. Maddock, Edna E. Mancilla, Bruce McClary, Jana Mertz, Kiley Morgart, Thomas J. Langan, Richard J. Leventer, Sumit Parikh, Amy Pizzino, Erin Prange, Deborah L. Renaud, William B. Rizzo, Jay R. Shapiro, Dean Suhr, Teryn Suhr, Davide Tonduti, Jacque Waggoner, Amy Waldman, Nicole I. Wolf, Ayelet Zerem, Joshua L. Bonkowsky, Geneviève Bernard, Keith Van Haren, Adeline Vanderver

    Publicado em 2017
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