Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Andres Moreno‐De‐Luca"'
Autor:
Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association rema
Externí odkaz:
https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2
Autor:
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Le Thi Hao, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Quentin J. Moyer, Evan Dennis, Emre Kiziltug, Adam J. Kundishora, Tyrone DeSpenza, Ana B. W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-23 (2023)
Abstract To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human ce
Externí odkaz:
https://doaj.org/article/3ca7b90963454521ac767ab9c7496a24
Autor:
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affecte
Externí odkaz:
https://doaj.org/article/711cfaa4bbdd40c88cf90df5e876adc6
Autor:
Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth A. Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi, Ehsan Ghayoor Karimiani, Narges Hashemi, Mirna Souaid, Sandra Sabbagh, Paria Najarzadeh Torbati, Suliman Khan, Emmanuel Roze, Andres Moreno‐De‐Luca, Aida M. Bertoli‐Avella, Henry Houlden, Tamas Balla, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1345-1358 (2022)
Abstract Objective Intracellular signaling networks rely on proper membrane organization to control an array of cellular processes such as metabolism, proliferation, apoptosis, and macroautophagy in eukaryotic cells and organisms. Phosphatidylinosito
Externí odkaz:
https://doaj.org/article/e661a9bb4241478abb777acab28ee5c0
Autor:
Adam J. Kundishora, Garrett Allington, Stephen McGee, Kedous Y. Mekbib, Vladimir Gainullin, Andrew T. Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q. Duy, Aladine A. Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M. Qureshi, Michael L. DiLuna, Shrikant Mane, Irina R. Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Charuta G. Furey, Bob S. Carter, Shozeb Haider, Andres Moreno-De-Luca, Seth L. Alper, Murat Gunel, Francisca Millan, Richard P. Lifton, Rebecca I. Torene, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Medicine. 29:667-678
Autor:
Sara Nagy, Tracy Lau, Shahryar Alavi, Ehsan Ghayoor Karimiani, Jalal Vallian, Bobby G. Ng, Samaneh Noroozi Asl, Javad Akhondian, Amir Bahreini, Omid Yaghini, Prech Uapinyoying, Carsten Bonnemann, Hudson H. Freeze, Vajira H. W. Dissanayake, Nirmala D. Sirisena, Miriam Schmidts, Henry Houlden, Andres Moreno‐De‐Luca, Reza Maroofian
Publikováno v:
Clinical Genetics. 102:530-536
Biallelic pathogenic variants in the genes encoding the dolichol-phosphate mannose synthase subunits (DPM) which produce mannosyl donors for glycosylphosphatidylinositols, N-glycan and protein O- and C-mannosylation, are rare causes of congenital dis
Autor:
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Hao Thi Le, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Adam J. Kundishora, Tyrone DeSpenza, Ana B.W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
bioRxiv
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and severe congenital brain arteriovenous malformation, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee1c52b11848fed120127d869285bb3
https://doi.org/10.1101/2023.03.18.532837
https://doi.org/10.1101/2023.03.18.532837
Autor:
Amrita K. Singh, Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y. Mekbib, John P. Shohfi, Phan Q. Duy, Tyrone DeSpenza, Charuta G Furey, Benjamin C. Reeves, Hannah Smith, Shaojie Ma, André M. M. Sousa, Adriana Cherskov, August Allocco, Carol Nelson-Williams, Shozeb Haider, Syed R. A. Rizvi, Seth L. Alper, Nenad Sestan, Hermela Shimelis, Lauren K. Walsh, Richard P. Lifton, Andres Moreno-De-Luca, Sheng Chih Jin, Paul Kruszka, Engin Deniz, Kristopher T. Kahle
Publikováno v:
medRxiv
ImportanceHydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery. A few familial forms of congenital hydrocephalus (CH) have been identified, but the cause of most sporadic cases of CH remains e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d5b4777feae2c28d2d2914f370fe856
https://doi.org/10.1101/2023.03.19.23287455
https://doi.org/10.1101/2023.03.19.23287455
Autor:
Tyrone DeSpenza, Emre Kiziltug, Garrett Allington, Daniel G. Barson, David O’Connor, Stephanie M. Robert, Kedous Y. Mekbib, Pranav Nanda, Ana Greenberg, Amrita Singh, Phan Q. Duy, Francesca Mandino, Shujuan Zhao, Anna Lynn, Benjamin C. Reeves, Arnaud Marlier, Stephanie A. Getz, Carol Nelson-Williams, Hermela Shimelis, Lauren K. Walsh, Jinhui Zhang, Wei Wang, Annaliese OuYang, Hannah Smith, William Butler, Bob S. Carter, Engin Deniz, Evelyn M. R. Lake, Todd Constable, Murat Gûnel, Richard P. Lifton, Seth L. Alper, Sheng Chih Jin, Michael C. Crair, Andres Moreno-De-Luca, Bryan W. Luikart, Kristopher T. Kahle
SUMMARYExpansion of the cerebrospinal fluid (CSF)-filled cerebral ventricles (ventriculomegaly) is the quintessential feature of congenital hydrocephalus (CH) but also seen in autism spectrum disorder (ASD) and several neuropsychiatric diseases.PTENi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7667e40127dd5663eea3c40a7991dcaa
https://doi.org/10.1101/2023.03.18.533275
https://doi.org/10.1101/2023.03.18.533275
Autor:
Adam J. Kundishora, Benjamin C. Reeves, Andres Moreno-De-Luca, Christopher S. Hong, Stephanie M. Robert, Aladine A. Elsamadicy, Dominick Tuason, Michael L. DiLuna
Publikováno v:
Journal of Neurosurgery: Case Lessons. 5
BACKGROUND Hirayama disease, a cervical myelopathy characterized most commonly by a self-limiting atrophic weakness of the upper extremities, is a rare entity, scarcely reported in the literature. Diagnosis is made by spinal magnetic resonance imagin