Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Laurie A, Robak"'
Autor:
Ajay X. Thomas, Nichole Link, Laurie A. Robak, Gail Demmler‐Harrison, Emily C. Pao, Audrey E. Squire, Savannah Michels, Julie S. Cohen, Anne Comi, Paolo Prontera, Alberto Verrotti di Pianella, Giuseppe Di Cara, Livia Garavelli, Stefano Giuseppe Caraffi, Carlo Fusco, Roberta Zuntini, Kendall C. Parks, Elliott H. Sherr, Mais O. Hashem, Sateesh Maddirevula, Fowzan S. Alkuraya, Isphana A. F. Contractar, Jennifer E. Neil, Christopher A. Walsh, Hugo J. Bellen, Hsiao‐Tuan Chao, Robin D. Clark, Ghayda M. Mirzaa
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1276-1288 (2022)
Abstract Objective This study delineates the clinical and molecular spectrum of ANKLE2‐related microcephaly (MIC), as well as highlights shared pathological mechanisms between ANKLE2 and the Zika virus. Methods We identified 12 individuals with MIC
Externí odkaz:
https://doaj.org/article/bf3759a0566147bbb6315854302293ea
Autor:
Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman
Publikováno v:
Neurology. Genetics. 8(4)
Background and ObjectivesGenetic variants affect both Parkinson disease (PD) risk and manifestations. Although genetic information is of potential interest to patients and clinicians, genetic testing is rarely performed during routine PD clinical car
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faf41e74f32c31452022e91c863ad9bd
https://pubmed.ncbi.nlm.nih.gov/35747619
https://pubmed.ncbi.nlm.nih.gov/35747619
Autor:
Nurit, Assia Batzir, Pranjali K, Bhagwat, Tanya N, Eble, Pengfei, Liu, Christine M, Eng, Sarah H, Elsea, Laurie A, Robak, Fernando, Scaglia, Alica M, Goldman, Shweta U, Dhar, Michael F, Wangler
Publikováno v:
Cold Spring Harbor Molecular Case Studies
DNM1L encodes a GTPase of the dynamin superfamily, which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of DNM1L have been implicated in encephalopathy because of d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1edfc0a69600a253607d2c90dd99c5e6
https://pubmed.ncbi.nlm.nih.gov/30850373
https://pubmed.ncbi.nlm.nih.gov/30850373
Autor:
Stephen J. Raiker, Christoph Rader, Yuntao Duan, Karthik Venkatesh, Laurie A. Robak, Roman J. Giger, Hakjoo Lee, Thomas Höfer, Rose G. Mage, Jane Lee-Osbourne
Publikováno v:
The Journal of Neuroscience. 29:5768-5783
Myelin-associated glycoprotein (MAG) is a sialic acid-binding Ig-family lectin that functions in neuronal growth inhibition and stabilization of axon–glia interactions. The ectodomain of MAG is comprised of five Ig-like domains and uses neuronal ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a94b8650e2a16b1ae1768a6fc1fbef
https://doi.org/10.1523/jneurosci.4935-08.2009
https://doi.org/10.1523/jneurosci.4935-08.2009
Autor:
Laurie A. Robak, Peter Shrager, Yu Zhang, Hakjoo Lee, Karthik Venkatesh, Roman J. Giger, Rebecca Geary, Stephen J. Raiker, Hermes H. Yeh
Publikováno v:
The Journal of Neuroscience. 28:2753-2765
In the mature nervous system, changes in synaptic strength correlate with changes in neuronal structure. Members of the Nogo-66 receptor family have been implicated in regulating neuronal morphology. Nogo-66 receptor 1 (NgR1) supports binding of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4d659fe2a5045348d4cd70eaaad1ca
https://doi.org/10.1523/jneurosci.5586-07.2008
https://doi.org/10.1523/jneurosci.5586-07.2008