檢索結果 - Parikh, Sumit

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

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

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

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

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

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

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

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

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

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

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Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop 由 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

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NEUROTRANSMITTER ABNORMALITIES AND RESPONSE TO SUPPLEMENTATION IN SPG11 由 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

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

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CDKL5 Deficiency Disorder: Relationship between genotype, epilepsy, cortical visual impairment and development. 由 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.

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Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and... 由 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

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Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor 由 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.

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Development of an Objective Autism Risk Index Using Remote Eye Tracking 由 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.

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A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies 由 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

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

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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation 由 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

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