Hasil Pencarian - Joseph G. Gleeson

Perbaiki Hasil
  1. 1
    The role of primary cilia in neuronal function

    The role of primary cilia in neuronal function oleh Jeong Ho Lee, Joseph G. Gleeson

    Diterbitkan 2010-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Early ophthalmic findings in joubert syndrome

    Early ophthalmic findings in joubert syndrome oleh Amira A Abdelazeem, Olfat A Hassanin, Amal A Elgohary, Maha S Zaki, Amany H Galal, Joseph G Gleeson

    Diterbitkan 2017-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

    Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission oleh Martin W Breuss, Xiaoxu Yang, Valentina Stanley, Jennifer McEvoy-Venneri, Xin Xu, Arlene J Morales, Joseph G Gleeson

    Diterbitkan 2022-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    NSun2-Mediated Cytosine-5 Methylation of Vault Noncoding RNA Determines Its Processing into Regulatory Small RNAs

    NSun2-Mediated Cytosine-5 Methylation of Vault Noncoding RNA Determines Its Processing into Regulatory Small RNAs oleh Shobbir Hussain, Abdulrahim A. Sajini, Sandra Blanco, Sabine Dietmann, Patrick Lombard, Yoichiro Sugimoto, Maike Paramor, Joseph G. Gleeson, Duncan T. Odom, Jernej Ule, Michaela Frye

    Diterbitkan 2013-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

    Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair oleh Hana Hanzlikova, Evgeniia Prokhorova, Katerina Krejcikova, Zuzana Cihlarova, Ilona Kalasova, Jan Kubovciak, Jana Sachova, Richard Hailstone, Jan Brazina, Shereen Ghosh, Sebahattin Cirak, Joseph G. Gleeson, Ivan Ahel, Keith W. Caldecott

    Diterbitkan 2020-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

    Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder oleh Raman Kumar, Mark A. Corbett, Nicholas J. C. Smith, Daniella H. Hock, Zoya Kikhtyak, Liana N. Semcesen, Atsushi Morimoto, Sangmoon Lee, David A. Stroud, Joseph G. Gleeson, Eric A. Haan, Jozef Gecz

    Diterbitkan 2022-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

    Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families oleh Mahmoud Y. Issa, Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy-Venneri, Denice Belandres, Hasnaa M. Elbendary, Khaled R. Gaber, Ahmed Nabil, Mohamed S. Abdel-Hamid, Maha S. Zaki, Joseph G. Gleeson

    Diterbitkan 2020-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathway

    Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathway oleh Ye Eun Kim, Yong-Seok Kim, Hee-Eun Lee, Ki Hurn So, Youngshik Choe, Byung-Chang Suh, Joung-Hun Kim, Sang Ki Park, Gary W. Mathern, Joseph G. Gleeson, Jong-Cheol Rah, Seung Tae Baek

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

    Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly oleh Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson

    Diterbitkan 2021-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

    Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly oleh Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson

    Diterbitkan 2020-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    Cytosine-5 RNA methylation links protein synthesis to cell metabolism.

    Cytosine-5 RNA methylation links protein synthesis to cell metabolism. oleh Nikoletta A Gkatza, Cecilia Castro, Robert F Harvey, Matthias Heiß, Martyna C Popis, Sandra Blanco, Susanne Bornelöv, Abdulrahim A Sajini, Joseph G Gleeson, Julian L Griffin, James A West, Stefanie Kellner, Anne E Willis, Sabine Dietmann, Michaela Frye

    Diterbitkan 2019-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

    mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly oleh Camila A. B. Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel L. Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Ursula Thomé, Marcelo V. Santos, Fabiano P. Saggioro, Luciano Neder Serafini, Wilson A. Silva Jr, Joseph G. Gleeson, Hélio R. Machado

    Diterbitkan 2020-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. oleh Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner

    Diterbitkan 2019-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy oleh Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

    Diterbitkan 2019-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia oleh Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

    Diterbitkan 2020-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases

    Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases oleh McKinzie A. Garrison, Yeongjun Jang, Taejeong Bae, Adriana Cherskov, Sarah B. Emery, Liana Fasching, Attila Jones, John B. Moldovan, Cindy Molitor, Sirisha Pochareddy, Mette A. Peters, Joo Heon Shin, Yifan Wang, Xiaoxu Yang, Schahram Akbarian, Andrew Chess, Fred H. Gage, Joseph G. Gleeson, Jeffrey M. Kidd, Michael McConnell, Ryan E. Mills, John V. Moran, Peter J. Park, Nenad Sestan, Alexander E. Urban, Flora M. Vaccarino, Christopher A. Walsh, Daniel R. Weinberger, Sarah J. Wheelan, Alexej Abyzov, BSMN Consortium

    Diterbitkan 2023-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome oleh Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson

    Diterbitkan 2015-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    Comprehensive identification of somatic nucleotide variants in human brain tissue

    Comprehensive identification of somatic nucleotide variants in human brain tissue oleh Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A. Sherman, Attila G. Jones, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobon, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, Livia Tomasini, Xiaoxu Yang, Bo Zhou, Schahram Akbarian, Laurel L. Ball, Sara Bizzotto, Sarah B. Emery, Ryan Doan, Liana Fasching, Yeongjun Jang, David Juan, Esther Lizano, Lovelace J. Luquette, John B. Moldovan, Rujuta Narurkar, Matthew T. Oetjens, Rachel E. Rodin, Shobana Sekar, Joo Heon Shin, Eduardo Soriano, Richard E. Straub, Weichen Zhou, Andrew Chess, Joseph G. Gleeson, Tomas Marquès-Bonet, Peter J. Park, Mette A. Peters, Jonathan Pevsner, Christopher A. Walsh, Daniel R. Weinberger, Brain Somatic Mosaicism Network, Flora M. Vaccarino, John V. Moran, Alexander E. Urban, Jeffrey M. Kidd, Ryan E. Mills, Alexej Abyzov

    Diterbitkan 2021-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  19. 19
    Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Research in context

    Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Research in context oleh Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian

    Diterbitkan 2024-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  20. 20
    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder oleh Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

    Diterbitkan 2021-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: