Isaac Marin‐Valencia - Publications, H-index & Citations

Isaac Marin‐Valencia

Icahn School of Medicine at Mount Sinai

21H指数

74论文数

3.0K被引数

收录论文 21

发表时间

Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction 携带新型纯合变异TOP3Α导致线粒体功能障碍的儿科心脏移植患者预后

Molecular Genetics and Metabolism

IF3.5

2025-09-22

PREAI

J. Ganesh; C. Donnelly; A. Ligezka; G. Preston; E. Morava; M. Breilyn; I. Marin-Valencia; H. Raynes; N. Bansal; J. Lamour; C. Mintz; T. Kozicz

Imaging brain glucose metabolism in vivo reveals propionate as a major anaplerotic substrate in pyruvate dehydrogenase deficiency

CELL METABOLISM

IF30.9

2024-06-01

PREAI

Marin-Valencia, Isaac; Kocabas, Arif; Rodriguez-Navas, Carlos; Miloushev, Vesselin Z.; Gonzalez-Rodriguez, Manuel; Lees, Hannah; Henry, Kelly E.; Vaynshteyn, Jake; Longo, Valerie; Deh, Kofi; Eskandari, Roozbeh; Mamakhanyan, Arsen; Berishaj, Marjan; Keshari, Kayvan R.

Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2022-10-05

OAAI

Rajasekaran, Karthik; Ma, Qian; Good, Levi B.; Kathote, Gauri; Jakkamsetti, Vikram; Liu, Peiying; Avila, Adrian; Primeaux, Sharon; Alva, Julio Enciso; Markussen, Kia H.; Marin-Valencia, Isaac; Sirsi, Deepa; Hacker, Peter M. S.; Gentry, Matthew S.; Su, Jianzhong; Lu, Hanzhang; Pascual, Juan M.

Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2019-02-20

OAAI

Jakkamsetti, Vikram; Marin-Valencia, Isaac; Ma, Qian; Good, Levi B.; Terrill, Tyler; Rajasekaran, Karthik; Pichumani, Kumar; Khemtong, Chalermchai; Hooshyar, M. Ali; Sundarrajan, Chandrasekhar; Patel, Mulchand S.; Bachoo, Robert M.; Malloy, Craig R.; Pascual, Juan M.

Measurement of 13C turnover into glutamate and glutamine pools in brain tumor patients

FEBS LETTERS

IF3

2017-10-27

OAAI

Pichumani, Kumar; Mashimo, Tomoyuki; Vemireddy, Vamsidhara; Ijare, Omkar B.; Mickey, Bruce E.; Malloy, Craig R.; Marin-Valencia, Isaac; Baskin, David S.; Bachoo, Robert M.; Maher, Elizabeth A.

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-09-01

OAAI

Marin-Valencia, Isaac; Gerondopoulos, Andreas; Zaki, Maha S.; Ben-Omran, Tawfeg; Almureikhi, Mariam; Demir, Ercan; Guemez-Gamboa, Alicia; Gregor, Anne; Issa, Mahmoud Y.; Appelhof, Bart; Roosing, Susanne; Musaev, Damir; Rosti, Basak; Wirth, Sara; Stanley, Valentina; Baas, Frank; Barr, Francis A.; Gleeson, Joseph G.

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

JOURNAL OF MEDICAL GENETICS

IF3.7

2017-06-16

OAAI

Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide; Rosti, Basak; Issa, Mahmoud Y.; Musaev, Damir; Bhat, Gifty; Scott, Eric; Silhavy, Jennifer L.; Stanley, Valentina; Rosti, Rasim O.; Gleeson, Jeremy W.; Imam, Farhad B.; Zaki, Maha S.; Gleeson, Joseph G.

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

2017-03-09

PREAI

Rosti, Rasim Ozgur; Sotak, Bethany N.; Bielas, Stephanie L.; Bhat, Gifty; Silhavy, Jennifer L.; Aslanger, Ayca Dilruba; Altunoglu, Umut; Bilge, Ilmay; Tasdemir, Mehmet; Yzaguirrem, Amanda D.; Musaev, Damir; Infante, Sofia; Thuong, Whitney; Marin-Valencia, Isaac; Nelson, Stanley F.; Kayserili, Hulya; Gleeson, Joseph G.

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

NATURE GENETICS

IF31.8

2017-01-16

OAAI

Lardelli, Rea M.; Schaffer, Ashleigh E.; Eggens, Veerle R. C.; Zaki, Maha S.; Grainger, Stephanie; Sathe, Shashank; Van Nostrand, Eric L.; Schlachetzki, Zinayida; Rosti, Basak; Akizu, Naiara; Scott, Eric; Silhavy, Jennifer L.; Heckman, Laura Dean; Rosti, Rasim Ozgur; Dikoglu, Esra; Gregor, Anne; Guemez-Gamboa, Alicia; Musaev, Damir; Mande, Rohit; Widjaja, Ari; Shaw, Tim L.; Markmiller, Sebastian; Marin-Valencia, Isaac; Davies, Justin H.; de Meirleir, Linda; Kayserili, Hulya; Altunoglu, Umut; Freckmann, Mary Louise; Warwick, Linda; Chitayat, David; Blaser, Susan; Caglayan, Ahmet Okay; Bilguvar, Kaya; Per, Huseyin; Fagerberg, Christina; Christesen, Henrik T.; Kibaek, Maria; Aldinger, Kimberly A.; Manchester, David; Matsumoto, Naomichi; Muramatsu, Kazuhiro; Saitsu, Hirotomo; Shiina, Masaaki; Ogata, Kazuhiro; Foulds, Nicola; Dobyns, William B.; Chi, Neil C.; Traver, David; Spaccini, Luigina; Bova, Stefania Maria; Gabrie, Stacey B.; Gunel, Murat; Valente, Enza Maria; Nassogne, Marie-Cecile; Bennett, Eric J.; Yeo, Gene W.; Baas, Frank; Lykke-Andersen, Jens; Gleeson, Joseph G.

PYCR2 Mutations Cause a Lethal Syndrome of Microcephaly and Failure to Thrive

ANNALS OF NEUROLOGY

IF7.7

2016-06-01

OAAI

Zaki, Maha S.; Bhat, Gifty; Sultan, Tipu; Issa, Mahmoud; Jung, Hea-Jin; Dikoglu, Esra; Selim, Laila; Mahmoud, Imam G.; Abdel-Hamid, Mohamed S.; Abdel-Salam, Ghada; Marin-Valencia, Isaac; Gleeson, Joseph G.

Targeting the metabolic flexibility of cancer cells: Straighten up and die right

CELL CYCLE

IF3.4

2014-10-27

OAAI

Marin-Valencia, Isaac; DeBerardinis, Ralph J.

Thiamine Deficiency Secondary to Anorexia Nervosa: An Uncommon Cause of Peripheral Neuropathy and Wernicke Encephalopathy in Adolescence

PEDIATRIC NEUROLOGY

IF2.1

2014-07-01

PREAI

Renthal, William; Marin-Valencia, Isaac; Evans, Patricia A.

Pathogenetic mechanisms of focal cortical dysplasia 局灶性皮质发育不良的发病机制

EPILEPSIA

IF6.6

2014-05-23

OAAI

Marin-Valencia, Isaac; Guerrini, Renzo; Gleeson, Joseph G.

Methylphenidate and Continuous Spike and Wave During Sleep in a Child With Attention Deficit Hyperactivity Disorder

PEDIATRIC NEUROLOGY

IF2.1

2013-07-01

PREAI

Sheen, Volney L.; Shankar, Maithreyi; Marin-Valencia, Isaac; Bridgemohan, Carolyn H.; Torres, Alcy R.

Modeling of brain metabolism and pyruvate compartmentation using 13C NMR in vivo: caution required

JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

IF4.5

2013-05-08

OAAI

Jeffrey, F. Mark; Marin-Valencia, Isaac; Good, Levi B.; Shestov, Alexander A.; Henry, Pierre-Gilles; Pascual, Juan M.; Malloy, Craig R.

Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet 13C NMR of the adult mouse brain

NEUROCHEMISTRY INTERNATIONAL

IF4

2012-12-01

OAAI

Marin-Valencia, Isaac; Good, Levi B.; Ma, Qian; Malloy, Craig R.; Patel, Mulchand S.; Pascual, Juan M.

Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain

JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

IF4.5

2012-10-17

OAAI

Marin-Valencia, Isaac; Good, Levi B.; Ma, Qian; Malloy, Craig R.; Pascual, Juan M.

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

NEUROBIOLOGY OF DISEASE

IF5.6

2012-10-01

OAAI

Marin-Valencia, Isaac; Good, Levi B.; Ma, Qian; Duarte, Joao; Bottiglieri, Teodoro; Sinton, Christopher M.; Heilig, Charles W.; Pascual, Juan M.

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

CELL METABOLISM

IF30.9

2012-06-01

447

OAAI

Marin-Valencia, Isaac; Yang, Chendong; Mashimo, Tomoyuki; Cho, Steve; Baek, Hyeonman; Yang, Xiao-Li; Rajagopalan, Kartik N.; Maddie, Melissa; Vemireddy, Vamsidhara; Zhao, Zhenze; Cai, Ling; Good, Levi; Tu, Benjamin P.; Hatanpaa, Kimmo J.; Mickey, Bruce E.; Mates, Jose M.; Pascual, Juan M.; Maher, Elizabeth A.; Malloy, Craig R.; DeBerardinis, Ralph J.; Bachoo, Robert M.

2-hydroxyglutarate detection by magnetic resonance spectroscopy in subjects with IDH-mutated gliomas

NATURE MEDICINE

IF50

2012-01-26

664

OAAI

Choi, Changho; Ganji, Sandeep K.; DeBerardinis, Ralph J.; Hatanpaa, Kimmo J.; Rakheja, Dinesh; Kovacs, Zoltan; Yang, Xiao-Li; Mashimo, Tomoyuki; Raisanen, Jack M.; Marin-Valencia, Isaac; Pascual, Juan M.; Madden, Christopher J.; Mickey, Bruce E.; Malloy, Craig R.; Bachoo, Robert M.; Maher, Elizabeth A.

研究方向