Search Results - Sumit Parikh

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  1. 1

    Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice by Margaret Moore, Philip Yeske, Sumit Parikh

    Published in Journal of Primary Care & Community Health (2023-08-01)
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  2. 2

    Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges by McKenzie Chappell, Sumit Parikh, Elizabeth Reynolds

    Published in JIMD Reports (2023-09-01)
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  3. 3

    Explosive‐Onset Epilepsia Partialis Continua and Chorea by Peter F. Sarnacki, Gary Hsich, Aaron Abrams, Sumit Parikh

    Published in Annals of the Child Neurology Society (2025-03-01)
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  4. 4

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

    Published in Nature Communications (2021-11-01)
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  5. 5

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

    Published in JIMD Reports (2020-11-01)
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  6. 6

    Exploring the neurological features of individuals with germline PTEN variants: A multicenter study by Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W. Frazier, Siddharth Srivastava, Sumit Parikh, Gary E. Hsich, Neil R. Friedman, David M. Ritter, Antonio Y. Hardan, Julian A. Martinez‐Agosto, Mustafa Sahin, Charis Eng

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  7. 7

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

    Published in Advanced Genetics (2022-03-01)
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  8. 8

    Registry-derived stage (RD-Stage) for capturing stage at diagnosis for pancreatic carcinoma in Australia. by Sue M Evans, Kris Ivanova, Danca Cossio, Charles H C Pilgrim, Daniel Croagh, John Zalcberg, Dalisay Giffard, Nikkitia Golobic, Bruno Di Muzio, Catriona McLean C, Kate McLean, Gregory C Miller, Susanna Nicosia, Nick O'Rourke, Sumit Parikh, Richard Standish, Luc Te Marvelde

    Published in PLoS ONE (2024-01-01)
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  9. 9

    Registry-derived stage (RD-Stage) for capturing stage at diagnosis for pancreatic carcinoma in Australia by Sue M. Evans, Kris Ivanova, Danca Cossio, Charles H. C. Pilgrim, Daniel Croagh, John Zalcberg, Dalisay Giffard, Nikkitia Golobic, Bruno Di Muzio, Catriona McLean C, Kate McLean, Gregory C. Miller, Susanna Nicosia, Nick O’Rourke, Sumit Parikh, Richard Standish, Luc te Marvelde

    Published in PLoS ONE (2024-01-01)
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  10. 10

    Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial by Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M. Ennes, Marni J. Falk, Amy Goldstein, Gráinne Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D. S. Pitceathly, Russekk Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L. K. Van Hove, John Vissing, Jerry Vockley, Jeffrey S. Finman, Anthony Abbruscato, David A. Brown, Alana Sullivan, James A. Shiffer, Michelango Mancuso, on behalf of the MMPOWER-3 Trial Investigators

    Published in Orphanet Journal of Rare Diseases (2024-11-01)
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