Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Hart G W, Lidov"'
Autor:
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 3, Pp 242-247 (2024)
Abstract Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abn
Externí odkaz:
https://doaj.org/article/e1200bab55d54343a4ed352058eac594
Autor:
Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C. Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G. W. Lidov, Andrew L. Mammen, Josep M. Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S. Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito
Publikováno v:
Acta Neuropathologica. 145:479-496
Autor:
Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lu, Nicole M Walley, Anne F Buckley, Tristan T Sands, Cigdem I Akman, Mohamad A Mikati, Guy M McKhann, James E Goldman, Peter Canoll, Allyson L Alexander, Kristen L Park, Gretchen K Von Allmen, Olga Rodziyevska, Meenakshi B Bhattacharjee, Hart G W Lidov, Hannes Vogel, Gerald A Grant, Brenda E Porter, Annapurna H Poduri, Peter B Crino, Erin L Heinzen
Publikováno v:
Brain
Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants
Autor:
Carmen, Barba, Ingmar, Blumcke, Melodie R, Winawer, Till, Hartlieb, Hoon-Chul, Kang, Laura, Grisotto, Mathilde, Chipaux, Christian G, Bien, Barbora, Heřmanovská, Brenda E, Porter, Hart G W, Lidov, Valentina, Cetica, Friedrich G, Woermann, Javier A, Lopez-Rivera, Peter D, Canoll, Irina, Mader, Ludovico, D'Incerti, Sara, Baldassari, Edward, Yang, Ahmed, Gaballa, Hannes, Vogel, Barbora, Benova, Letizia, Macconi, Tilman, Polster, Gerald A, Grant, Lenka, Krsková, Hui Jin, Shin, Ara, Ko, Peter B, Crino, Pavel, Krsek, Jeong Ho, Lee, Dennis, Lal, Stéphanie, Baulac, Annapurna, Poduri, Renzo, Guerrini
Publikováno v:
Neurology
BACKGROUND AND OBJECTIVES: The SLC35A2 gene, located at chromosome Xp11.23, encodes for a uridine diphosphate–galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings and assess possible predictors of po
Publikováno v:
Journal of clinical neuromuscular disease. 23(3)
Autor:
Qun Li, Zhiyuan Han, Navleen Singh, Berta Terré, Ryann M. Fame, Uzayr Arif, Thomas D. Page, Tasneem Zahran, Ahmed Abdeltawab, Yuan Huang, Ping Cao, Jun Wang, Hao Lu, Hart G. W. Lidov, Kameswaran Surendran, Lizhao Wu, James Q. Virga, Ying-Tao Zhao, Ulrich Schüller, Robert J. Wechsler-Reya, Maria K. Lehtinen, Sudipto Roy, Zhongmin Liu, Travis H. Stracker, Haotian Zhao
Publikováno v:
Cell death and differentiation. 29(8)
Multiciliated cells (MCCs) in the brain reside in the ependyma and the choroid plexus (CP) epithelia. The CP secretes cerebrospinal fluid that circulates within the ventricular system, driven by ependymal cilia movement. Tumors of the CP are rare pri
Autor:
Christine C. Bruels, Chengcheng Li, Tonatiuh Mendoza, Jamillah Khan, Hemakumar M. Reddy, Elicia A. Estrella, Partha S. Ghosh, Basil T. Darras, Hart G. W. Lidov, Christina A. Pacak, Louis M. Kunkel, François Modave, Isabelle Draper, Peter B. Kang
Publikováno v:
Molecular Genetics & Genomic Medicine
The cover image based on Original Article Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites by Christine C. Bruels, DOI: 10.1002/mgg3.552.
Autor:
Melody P, Lun, Matthew B, Johnson, Kevin G, Broadbelt, Momoko, Watanabe, Young-Jin, Kang, Kevin F, Chau, Mark W, Springel, Alexandra, Malesz, André M M, Sousa, Mihovil, Pletikos, Tais, Adelita, Tai, Adelita, Monica L, Calicchio, Yong, Zhang, Michael J, Holtzman, Hart G W, Lidov, Nenad, Sestan, Hanno, Steen, Edwin S, Monuki, Maria K, Lehtinen
Publikováno v:
The Journal of neuroscience : the official journal of the Society for Neuroscience. 35(12)
A sheet of choroid plexus epithelial cells extends into each cerebral ventricle and secretes signaling factors into the CSF. To evaluate whether differences in the CSF proteome across ventricles arise, in part, from regional differences in choroid pl
Autor:
Doreen T, Ho, Nancy M, Rodig, Heung B, Kim, Hart G W, Lidov, Frederic D, Shapiro, G Praveen, Raju, Peter B, Kang
Publikováno v:
Pediatric transplantation. 16(7)
Clinical and pathologic studies on adults with uremic neuropathy are numerous, but less is known about this disorder in children and adolescents. We report the clinical, electrophysiologic, and pathologic findings in an adolescent female with uremic
Autor:
Dongsheng, Cai, J Daniel, Frantz, Nicholas E, Tawa, Peter A, Melendez, Byung-Chul, Oh, Hart G W, Lidov, Per-Olof, Hasselgren, Walter R, Frontera, Jongsoon, Lee, David J, Glass, Steven E, Shoelson
Publikováno v:
Cell. 119(2)
Muscle wasting accompanies aging and pathological conditions ranging from cancer, cachexia, and diabetes to denervation and immobilization. We show that activation of NF-kappaB, through muscle-specific transgenic expression of activated IkappaB kinas