Výsledky vyhledávání - Isaac Marin‐Valencia

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  1. 1
    Pathogenetic mechanisms of focal cortical dysplasia

    Pathogenetic mechanisms of focal cortical dysplasia Autor Isaac Marin‐Valencia, Renzo Guerrini, Joseph G. Gleeson

    Vydáno 2014
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  2. 2
    Decreased carbon shunting from glucose toward oxidative metabolism in diet‐induced ketotic rat brain

    Decreased carbon shunting from glucose toward oxidative metabolism in diet‐induced ketotic rat brain Autor Yifan Zhang, Shenghui Zhang, Isaac Marin‐Valencia, Michelle A. Puchowicz

    Vydáno 2014
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  3. 3
    Heptanoate as a Neural Fuel: Energetic and Neurotransmitter Precursors in Normal and Glucose Transporter I-Deficient (G1D) Brain

    Heptanoate as a Neural Fuel: Energetic and Neurotransmitter Precursors in Normal and Glucose Transporter I-Deficient (G1D) Brain Autor Isaac Marin‐Valencia, Levi B. Good, Qian Ma, Craig R. Malloy, Juan M. Pascual

    Vydáno 2012
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  4. 4
    Glut1 deficiency (G1D): Epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype

    Glut1 deficiency (G1D): Epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype Autor Isaac Marin‐Valencia, Levi B. Good, Qian Ma, João André Gonçalves Duarte, Teodoro Bottiglieri, Christopher M. Sinton, Charles W. Heilig, Juan M. Pascual

    Vydáno 2012
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  5. 5
    <i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive

    <i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive Autor Maha S. Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Y. Issa, Hea‐Jin Jung, Esra Dikoglu, Laila Selim, Imam G. Mahmoud, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Isaac Marin‐Valencia, Joseph G. Gleeson

    Vydáno 2016
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  6. 6
    Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency

    Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency Autor Vikram Jakkamsetti, Isaac Marin‐Valencia, Qian Ma, Levi B. Good, Tyler Terrill, Karthik Rajasekaran, Kumar Pichumani, Chalermchai Khemtong, M. A. Hooshyar, Chandrasekhar Sundarrajan, Mulchand S. Patel, Robert Bachoo, Craig R. Malloy, Juan M. Pascual

    Vydáno 2019
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  7. 7
    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features Autor Isaac Marin‐Valencia, Gaia Novarino, Anide Johansen, Başak Rosti, Mahmoud Y. Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L. Silhavy, Valentina Stanley, Rasim Özgür Rosti, Jeremy W Gleeson, Farhad Imam, Maha S. Zaki, Joseph G. Gleeson

    Vydáno 2017
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  8. 8
    Triheptanoin for Glucose Transporter Type I Deficiency (G1D)

    Triheptanoin for Glucose Transporter Type I Deficiency (G1D) Autor Juan M. Pascual, Peiying Liu, Deng Mao, Dorothy I. Kelly, Ana Hernández, Min Sheng, Levi B. Good, Qian Ma, Isaac Marin‐Valencia, Xuchen Zhang, Jason Y. Park, Linda S. Hynan, Peter L. Stavinoha, Charles R. Roe, Hanzhang Lu

    Vydáno 2014
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  9. 9
    2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas

    2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas Autor Changho Choi, Sandeep Ganji, Ralph J. DeBerardinis, Kimmo J. Hatanpaa, Dinesh Rakheja, Zoltán Kovács, Yang Xiao-li, Tomoyuki Mashimo, Jack Raisanen, Isaac Marin‐Valencia, Juan M. Pascual, Christopher J. Madden, Bruce Mickey, Craig R. Malloy, Robert Bachoo, Elizabeth A. Maher

    Vydáno 2012
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  10. 10
    Metabolism of [U‐<sup>13</sup>C]glucose in human brain tumors <i>in vivo</i>

    Metabolism of [U‐<sup>13</sup>C]glucose in human brain tumors <i>in vivo</i> Autor Elizabeth A. Maher, Isaac Marin‐Valencia, Robert Bachoo, Tomoyuki Mashimo, Jack Raisanen, Kimmo J. Hatanpaa, Ashish Jindal, F. Mark H. Jeffrey, Changho Choi, Christopher J. Madden, Dana Mathews, Juan M. Pascual, Bruce Mickey, Craig R. Malloy, Ralph J. DeBerardinis

    Vydáno 2012
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  11. 11
    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia Autor Isaac Marin‐Valencia, Andreas Gerondopoulos, Maha S. Zaki, Tawfeg Ben‐Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez‐Gamboa, Anne Gregor, Mahmoud Y. Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Başak Rosti, Sara A. Wirth, Valentina Stanley, Frank Baas, Francis A. Barr, Joseph G. Gleeson

    Vydáno 2017
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  12. 12
    Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors

    Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors Autor Isaac Marin‐Valencia, Steve K. Cho, Dinesh Rakheja, Kimmo J. Hatanpaa, Payal Kapur, Tomoyuki Mashimo, Ashish Jindal, Vamsidhara Vemireddy, Levi B. Good, Jack Raisanen, Xiankai Sun, Bruce Mickey, Changho Choi, Masaya Takahashi, Osamu Togao, Juan M. Pascual, Ralph J. DeBerardinis, Elizabeth A. Maher, Craig R. Malloy, Robert Bachoo

    Vydáno 2012
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  13. 13
    Analysis of Tumor Metabolism Reveals Mitochondrial Glucose Oxidation in Genetically Diverse Human Glioblastomas in the Mouse Brain In Vivo

    Analysis of Tumor Metabolism Reveals Mitochondrial Glucose Oxidation in Genetically Diverse Human Glioblastomas in the Mouse Brain In Vivo Autor Isaac Marin‐Valencia, Chendong Yang, Tomoyuki Mashimo, Steve K. Cho, Hyeon‐Man Baek, Xiaoli Yang, Kartik N. Rajagopalan, Melissa A. Maddie, Vamsidhara Vemireddy, Zhenze Zhao, Ling Cai, Levi B. Good, Benjamin P. Tu, Kimmo J. Hatanpaa, Bruce Mickey, José M. Matés, Juan M. Pascual, Elizabeth A. Maher, Craig R. Malloy, Ralph J. DeBerardinis, Robert Bachoo

    Vydáno 2012
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  14. 14
    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing Autor Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson

    Vydáno 2017
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