检索结果 - Prab Prabhakar
- Showing 1 - 11 results of 11
-
1
-
2
-
3
-
4
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations 由 Omar Hikmat, Charalampos Tzoulis, W.K. Chong, Latifa Chentouf, Claus Klingenberg, Carl Fratter, Lucinda Carr, Prab Prabhakar, N. Kumaraguru, Paul Gissen, J. Helen Cross, Thomas S. Jacques, Jan‐Willem Taanman, Laurence A. Bindoff, Shamima Rahman
出版 2017Artigo -
5
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A 由 Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins, Neil Stoodley, Seo‐Kyung Chung, Andrew E. Fry, Ute Hehr, Roxana Gunny, Arthur S. Aylsworth, Prab Prabhakar, Gökhan Uyanık, Julia Rankin, Mark I. Rees, Daniela T. Pilz
出版 2013Artigo -
6
Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus 由 Joséphine Mayer, Emma M. Jenkinson, Paul R. Kasher, Stavros Stivaros, Andrea Berger, Duccio Maria Cordelli, Patrick Ferreira, Rosalind J Jefferson, G Kutschke, Staffan Lundberg, Katrin Õunap, Prab Prabhakar, Calvin Soh, Helen Stewart, Jon Stone, Marjo S. van der Knaap, Hilde Van Esch, Christine Van Mol, Emma Wakeling, Andrea Whitney, Gillian Rice, Yanick J. Crow, John H. Livingston
出版 2014Artigo -
7
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity 由 Ryan J. Taft, Adeline Vanderver, Richard J. Leventer, Stephen A. Damiani, Cas Simons, Sean M. Grimmond, David S. Miller, Johanna Schmidt, Paul J. Lockhart, Kate Pope, Kelin Ru, Joanna Crawford, Tena Rosser, I.F.M. de Coo, Monica Juneja, I. C. Verma, Prab Prabhakar, Susan Blasér, Julian Raiman, Petra J. W. Pouwels, Marianna R. Bevova, Truus E. M. Abbink, Marjo S. van der Knaap, Nicole I. Wolf
出版 2013Artigo -
8
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature 由 Gillian Rice, Paul R. Kasher, Gabriella Forte, Niamh Mannion, Sam M. Greenwood, Marcin Szynkiewicz, Jonathan E. Dickerson, Sanjeev S. Bhaskar, Massimiliano Zampini, Tracy A. Briggs, Emma M. Jenkinson, Carlos A. Bacino, Roberta Battini, Enrico Bertini, Paul Brogan, Louise Brueton, Marialuisa Carpanelli, Corinne De Laet, Pascale de Lonlay, Mireia del Toro, Isabelle Desguerre, Elisa Fazzi, Àngels García‐Cazorla, Arvid Heiberg, Masakazu Kawaguchi, Ram Kumar, Jean‐Pierre Lin, Charles Marques Lourenço, Alison Male, Wilson Marques, Cyril Mignot, Ivana Olivieri, Simona Orcesi, Prab Prabhakar, Magnhild Rasmussen, Robert A. Robinson, Flore Rozenberg, Johanna Schmidt, Katharina Steindl, Tiong Yang Tan, William G van der Merwe, Adeline Vanderver, Grace Vassallo, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, John H. Livingston, Pierre Lebon, Tamio Suzuki, Paul McLaughlin, Liam P. Keegan, Mary A. O’Connell, Simon C. Lovell, Yanick J. Crow
出版 2012Artigo -
9
<i>EPG5</i>-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy 由 Susan Byrne, Max Janse, Jean-Marie U-King-Im, Ata Siddiqui, Hart G.W. Lidov, István Bódi, Luke J. Smith, R. Mein, Thomas Cullup, Carlo Dionisi‐Vici, Lihadh Al‐Gazali, Mohammed Al‐Owain, Zandrè Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni‐Baruch, Hanna Mandel, Efrat Dagan, Annick Raas‐Rothschild, Hila Barash, Francis Filloux, Donnell J. Creel, Michael A. Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi‐Fakhari, Georg F. Hoffmann, David K. Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenço, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline A. Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth
出版 2016Artigo -
10
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts 由 Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence Goosey, Y Rose, Christopher J. Kershaw, Jill Urquhart, Simon G. Williams, Sanjeev S. Bhaskar, James D.B. O’Sullivan, Gabriela M. Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin Barañano, Angela Barnicoat, Roberta Battini, Andrea Berger, Edward Blair, Janice Brunstrom-Hernandez, Johannes Buckard, David Cassiman, Rosaline Caumes, Duccio Maria Cordelli, Liesbeth M De Waele, Alexander Fay, Patrick Ferreira, Nicholas Fletcher, Alan Fryer, Himanshu Goel, Cheryl Hemingway, Marco Henneke, Imelda Hughes, Rosalind J Jefferson, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Timothy J Malpas, Sarju Mehta, Imke Metz, SakkuBai Naidu, Katrin Õunap, Axel Panzer, Prab Prabhakar, Gerardine Quaghebeur, Raphael Schiffmann, Elliott H. Sherr, Kanaga R Sinnathuray, Calvin Soh, Helen Stewart, Jon Stone, Hilde Van Esch, Christine E G Van Mol, Adeline Vanderver, Emma Wakeling, Andrea Whitney, Graham D. Pavitt, Sam Griffiths‐Jones, Gillian Rice, Patrick Revy, Marjo S. van der Knaap, John H. Livingston, Raymond T. O’Keefe, Yanick J. Crow
出版 2016Artigo -
11
Bi-allelic variants in INTS11 are associated with a complex neurological disorder 由 Burak Tepe, Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers, Yuri A. Zárate, G. Bradley Schaefer, Jorge Luis Granadillo De Luque, Daniel Wegner, Benjamin Cogné, Brigitte Gilbert‐Dussardier, Xavier Le Guillou, Eric J. Wagner, Lynn Pais, Jennifer E. Neil, Ganeshwaran H. Mochida, Christopher A. Walsh, Nurit Magal, Valerie Drasinover, Mordechai Shohat, Tanya L. Schwab, C Schmitz, Karl J. Clark, Anthony L. Fine, Brendan C. Lanpher, Ralitza H. Gavrilova, Pierre Blanc, Lydie Bürglen, Alexandra Afenjar, Dora Steel, Manju A. Kurian, Prab Prabhakar, Sophie Gößwein, Nataliya Di Donato, Enrico Bertini, Michael F. Wangler, Shinya Yamamoto, Marco Tartaglia, Eric W. Klee, Hugo J. Bellen, Maria T. Acosta, Margaret P Adam, David R. Adams, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza
出版 2023Artigo
相关主题
Medicine
Biology
Gene
Genetics
Pediatrics
Psychiatry
Internal medicine
Migraine
Mutation
Neurology
Pathology
Physical therapy
RNA
Anatomy
Anesthesia
Disease
Gene expression
Leukoencephalopathy
Neuroscience
Phenotype
ADAR
Allele
Alu element
Anesthesiology
Aura
Autism
Calcium
Cell biology
Central nervous system disease
Cephalalgia