Zobrazeno 1 - 10
of 453
pro vyhledávání: '"William B. Dobyns"'
Autor:
Ilan Gobius, Laura Morcom, Rodrigo Suárez, Jens Bunt, Polina Bukshpun, William Reardon, William B. Dobyns, John L.R. Rubenstein, A. James Barkovich, Elliott H. Sherr, Linda J. Richards
Publikováno v:
Cell Reports, Vol 17, Iss 3, Pp 735-747 (2016)
The corpus callosum is the major axon tract that connects and integrates neural activity between the two cerebral hemispheres. Although ∼1:4,000 children are born with developmental absence of the corpus callosum, the primary etiology of this condi
Externí odkaz:
https://doaj.org/article/8818c85899d244be9596722d1db7333e
Autor:
Reham, Khalaf-Nazzal, James, Fasham, Katherine A, Inskeep, Lauren E, Blizzard, Joseph S, Leslie, Matthew N, Wakeling, Nishanka, Ubeyratna, Tadahiro, Mitani, Jennifer L, Griffith, Wisam, Baker, Fida', Al-Hijawi, Karen C, Keough, Alper, Gezdirici, Loren, Pena, Christine G, Spaeth, Peter D, Turnpenny, Joseph R, Walsh, Randall, Ray, Amber, Neilson, Evguenia, Kouranova, Xiaoxia, Cui, David T, Curiel, Davut, Pehlivan, Zeynep Coban, Akdemir, Jennifer E, Posey, James R, Lupski, William B, Dobyns, Rolf W, Stottmann, Andrew H, Crosby, Emma L, Baple
Publikováno v:
The American Journal of Human Genetics. 109:2068-2079
Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family o
Autor:
Aguan D, Wei, Paul, Wakenight, Theresa A, Zwingman, Angela M, Bard, Nikhil, Sahai, Marjolein H, Willemsen, Helenius J, Schelhaas, Alexander P A, Stegmann, Judith S, Verhoeven, Stella A, de Man, Marja W, Wessels, Tjitske, Kleefstra, Deepali N, Shinde, Katherine L, Helbig, Alice, Basinger, Victoria F, Wagner, David, Rodriguez-Buritica, Emily, Bryant, John J, Millichap, Kathleen J, Millen, William B, Dobyns, Jan-Marino, Ramirez, Franck K, Kalume
Publikováno v:
J Neurophysiol
We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense alterations, were functiona
Autor:
Aguan D. Wei, Paul Wakenight, Theresa A. Zwingman, Angela M. Bard, Nikhil Sahai, Marjolein H. Willemsen, Helenius J. Schelhaas, Alexander P. A. Stegmann, Judith S. Verhoeven, Stella A. de Man, Marja W. Wessels, Tjitske Kleefstra, Deepali N. Shinde, Katherine L. Helbig, Alice Basinger, Victoria F. Wagner, David Rodriguez-Buritica, Emily Bryant, John J. Millichap, Kathleen J. Millen, William B. Dobyns, Jan-Marino Ramirez, Franck K. Kalume
Publikováno v:
Journal of Neurophysiology, 128(1), 40-61. American Physiological Society
Journal of Neurophysiology, 128, 40-61
Journal of Neurophysiology, 128, 1, pp. 40-61
Journal of Neurophysiology, 128, 40-61
Journal of Neurophysiology, 128, 1, pp. 40-61
We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense alterations, were functiona
Autor:
Lu Wang, Caleb Heffner, Keng loi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee, Pablo Lara-Gonzalez, Ishani Jhamb, Dennis Van Der Meer, Robert Loughnan, Nadine Parker, David Sievert, Swapnil Mittal, Mahmoud Y. Issa, Ole A. Andreassen, Anders Dale, William B. Dobyns, Maha S. Zaki, Stephen A. Murray, Joseph G. Gleeson
Publikováno v:
Proceedings of the National Academy of Sciences. 120
TMEM161B encodes an evolutionarily conserved widely expressed novel 8-pass transmembrane protein of unknown function in human. Here we identify TMEM161B homozygous hypomorphic missense variants in our recessive polymicrogyria (PMG) cohort. Patients c
Autor:
S. Subramanian, Ajay Taranath, Sniya Sudhakar, Karuna Shekdar, Pradeep Krishnan, Richard J. Leventer, César Augusto Pinheiro Ferreira Alves, Kimberly A. Aldinger, Manohar Shroff, Kshitij Mankad, Filippo Arrigoni, Asthik Biswas, William B. Dobyns
Publikováno v:
AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: Pathogenic variants in the ACTA2 gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients
Publikováno v:
European Journal of Paediatric Neurology. 35:147-152
Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band heterotopia. The progress in molecular genetics has led to identification of 31 lissencephaly-associated genes with th
Autor:
Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang, Epi4K Consortium, Epilepsy Phenome/Genome Project
Publikováno v:
PLoS Genetics, Vol 14, Iss 5, p e1007281 (2018)
Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic PVNH to identify novel genetic risk loci. We first performed a trio-based analysi
Externí odkaz:
https://doaj.org/article/39581fdc43d744058838751411b69c7f
Autor:
Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, Russell P Saneto, Elaine C Wirrell, Jason Coryell, Catherine J Chu, John R Mytinger, William D Gaillard, Ignacio Valencia, Kelly G Knupp, Tobias Loddenkemper, Joseph E Sullivan, Annapurna Poduri, John J Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B Dobyns, Madhuri Hegde
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0193599 (2018)
Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical,
Externí odkaz:
https://doaj.org/article/3572d9fdd28341cba74e4922c904f152
Autor:
William B. Dobyns
Publikováno v:
Pediatric Neurology. 122:41-49
In 2018, I was honored to receive the Bernard Sachs Award for a lifetime of work expanding knowledge of diverse neurodevelopmental disorders. Summarizing work over more than 30 years is difficult but is an opportunity to chronicle the dramatic change