يعرض 1 - 10 نتائج من 148 نتيجة بحث عن '"Russell P. Saneto"', وقت الاستعلام: 1.29s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

    المؤلفون: Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove

    المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)

    مصطلحات موضوعية: Nonketotic hyperglycinemia, Benzoate, Ketogenic diet, Magnetic resonance spectroscopy, Glycine, Epilepsy, Medicine

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/9af194b7d7c7450f938a5780e5345a8f

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  2. 2
    دورية أكاديمية
    Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease

    المؤلفون: Russell P. Saneto, Francisco A. Perez

    المصدر: Frontiers in Molecular Biosciences, Vol 9 (2022)

    مصطلحات موضوعية: mitochondria-associated endoplasmic reticulum membrane, calcium, autophagy, phospholipids, fatty acid metabolism, gene products, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2022.908721/full; https://doaj.org/toc/2296-889X

    URL الوصول: https://doaj.org/article/7242947466c84e3298047c27818a654b

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  3. 3
    دورية أكاديمية
    Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

    المؤلفون: Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove

    المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)

    مصطلحات موضوعية: Medicine

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/dd79b4bca7bd44dcb0e04befaa5c0737

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  4. 4
    دورية أكاديمية
    Epileptic spasms as the presenting seizure type in a patient with a new 'O' of TORCH, congenital Zika virus infection

    المؤلفون: Jason Lockrow, Hannah Tully, Russell P. Saneto

    المصدر: Epilepsy and Behavior Case Reports, Vol 11, Iss , Pp 1-3 (2019)

    مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2213323218300604; https://doaj.org/toc/2213-3232

    URL الوصول: https://doaj.org/article/35cc850377eb4545ad9e16a2dccdf8ad

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  5. 5
    دورية أكاديمية
    Epilepsy and Mitochondrial Dysfunction

    المؤلفون: Russell P. Saneto DO, PhD

    المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)

    مصطلحات موضوعية: Medicine (General), R5-920

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2326-4594

    URL الوصول: https://doaj.org/article/081db0f1e057462898e91508b6c5c49b

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  6. 6
    Primary Mitochondrial Epilepsies

    المؤلفون: Russell P. Saneto

    المصدر: Handbook of Pediatric Epilepsy Case Studies, Second Edition ISBN: 9781003296478

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e34042cb9d75680b88cef9b7a17ca11f
    https://doi.org/10.1201/9781003296478-29

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  7. 7
    A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome

    المؤلفون: Pasquale Striano, Stéphane Auvin, Abigail Collins, Rita Horvath, Ingrid E. Scheffer, Michal Tzadok, Ian Miller, Mary Kay Koenig, Adrian Lacy, Ronald Davis, Angela Garcia‐Cazorla, Russell P. Saneto, Melanie Brandabur, Susan Blair, Tony Koutsoukos, Darryl De Vivo

    المصدر: Epilepsia. 63:1748-1760

    مصطلحات موضوعية: Adult, Drug Resistant Epilepsy, Glucose Transporter Type 1, Adolescent, Monosaccharide Transport Proteins, Treatment Outcome, Double-Blind Method, Epilepsy, Absence, Neurology, Seizures, Humans, Anticonvulsants, Drug Therapy, Combination, Neurology (clinical), Child, Triglycerides, Carbohydrate Metabolism, Inborn Errors

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ee0e7b5cc09d8c2458643b7e85b89e
    https://doi.org/10.1111/epi.17263

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  8. 8
    Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

    المؤلفون: Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, Tim A Benke, J Helen Cross, Scott T Demarest, Heather E Olson, Nicola Specchio, Thomas R Fleming, Alex A Aimetti, Maciej Gasior, Orrin Devinsky, Elena Belousova, Oleg Belyaev, Bruria Ben-Zeev, Andreas Brunklaus, Michael A. Ciliberto, Francesca Darra, Ronald Davis, Valentina De Giorgis, Olga Doronina, Michael Fahey, Renzo Guerrini, Peter Heydemann, Olga Khaletskaya, Pawel Lisewski, Eric D. Marsh, Ahsan N. Moosa, Scott Perry, Sunny Philip, Rajsekar R. Rajaraman, Ben Renfroe, Russell P. Saneto, Ingrid E. Scheffer, Yoshimi Sogawa, Bernhardt Suter, Matthew T. Sweney, Daniel Tarquinio, Pierangelo Veggiotti, Geoff Wallace, Judy Weisenberg, Angus Wilfong, Elaine C. Wirrell, Muhammad Zafar, Marta Zolnowska

    المصدر: The Lancet Neurology. 21:417-427

    مصطلحات موضوعية: Infant, Pregnanolone, Protein Serine-Threonine Kinases, Infantile, Spasms, Treatment Outcome, Double-Blind Method, Seizures, Child, Preschool, Humans, Prospective Studies, Neurology (clinical), Child, Epileptic Syndromes, Spasms, Infantile

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22b17fab27a5bde8c7c1a684f969528
    https://doi.org/10.1016/s1474-4422(22)00077-1

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  9. 9
    دورية أكاديمية
    Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

    المؤلفون: Amanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, Janet J Mei, Steve Sideris, Yuko Kosaka, Andrew Hinman, Stephanie A Malone, Joel J Bruegger, Leslie Wang, Virna Kim, William D Shrader, Kevin G Hoff, Joey C Latham, Euan A Ashley, Matthew T Wheeler, Enrico Bertini, Rosalba Carrozzo, Diego Martinelli, Carlo Dionisi-Vici, Kimberly A Chapman, Gregory M Enns, William Gahl, Lynne Wolfe, Russell P Saneto, Simon C Johnson, Jeffrey K Trimmer, Matthew B Klein, Charles R Holst

    المصدر: PLoS ONE, Vol 14, Iss 3, p e0214250 (2019)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/8d6a4743a7c54e47b90913a261c70803

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  10. 10
    Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

    المؤلفون: Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R.P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal

    المساهمون: Paul, Maimuna S, Duncan, Anna R, Genetti, Casie A, Pan, Hongling, Jackson, Adam, Grant, Patricia E, Shi, Jiahai, Pinelli, Michele, Brunetti-Pierri, Nicola, Garza-Flores, Alexandra, Shahani, Dave, Saneto, Russell P, Zampino, Giuseppe, Leoni, Chiara, Agolini, Emanuele, Novelli, Antonio, Blümlein, Ulrike, Haack, Tobias B, Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Abou Jamra, Rami, Bartolomaeus, Tobia, Alhamdan, Saber, Carapito, Raphael, Isidor, Bertrand, Bahram, Seiamak, Ritter, Alyssa, Izumi, Kosuke, Shakked, Ben Pode, Barel, Ortal, Ben Zeev, Bruria, Begtrup, Amber, Carere, Deanna Alexi, Mullegama, Sureni V, Palculict, Timothy Blake, Calame, Daniel G, Schwan, Katharina, Aycinena, Alicia R P, Traberg, Rasa, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, Agrawal, Pankaj B

    المصدر: Am J Hum Genet

    مصطلحات موضوعية: Genetics, epilepsy, Drosophila, DEAD-box protein, neurodevelopmental disorder, Genetics (clinical), Article, transcription factor

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbcbe96535e30d1bd009e97bf4064b59
    https://hdl.handle.net/11588/907834

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