ADCY5-Related Dyskinesia: Comments on Characteristic Manifestations and Variant-Associated Severity

Por Raskind, Wendy H., Friedman, Jennifer R., Roze, Emmanuel, Méneret, Aurélie, Chen, Dong-Hui, Bird, Thomas D.
Publicado no Mov Disord (2016)

ADCY5 Mutation Carriers Display Pleiotropic Paroxysmal Day and Nighttime Dyskinesias

Por Friedman, Jennifer R, Méneret, Aurélie, Chen, Dong-Hui, Trouillard, Oriane, Vidailhet, Marie, Raskind, Wendy H., Roze, Emmanuel
Publicado no Mov Disord (2015)

Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms

Por Raghuram, Vijeta, Weber, Sydney, Raber, Jacob, Chen, Dong-Hui, Bird, Thomas D., Maylie, James, Adelman, John P.
Publicado no Neuroreport (2017)

Simultaneous high expression of PLD1 and Sp1 predicts a poor prognosis for pancreatic ductal adenocarcinoma patients

Por Hu, Jiong, Hu, Hai, Hang, Jun-jie, Yang, Hai-yan, Wang, Zhi-yong, Wang, Lei, Chen, Dong-hui, Wang, Li-wei
Publicado no Oncotarget (2016)

Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay

Por Kamat, Siddhesh S., Camara, Kaddy, Parsons, William H., Chen, Dong-Hui, Dix, Melissa M., Bird, Thomas D., Howell, Amy R., Cravatt, Benjamin F.
Publicado no Nat Chem Biol (2015)

An Eight Generation Family With CMTX: Confirmation Of The Pathogenicity Of A 3′ Untranslated Region Mutation In GJB1 And Its Clinical Features

Por Chen, Dong-Hui, Ma, Maxwell, Scavina, Mena, Blue, Elizabeth, Wolff, John, Karna, Prasanthi, Dorschner, Michael O., Raskind, Wendy H., Bird, Thomas D.
Publicado no Muscle Nerve (2017)

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations

Por Chen, Dong-Hui, Raskind, Wendy H., Parson, William W., Sonnen, Joshua A., Vu, Tiffany, Zheng, YunLin, Matsushita, Mark, Wolff, John, Lipe, Hillary, Bird, Thomas D.
Publicado em 2010

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

Por Sullivan, Jeremy M., Zimanyi, Christina M., Aisenberg, William, Bears, Breanne, Chen, Dong-Hui, Day, John W., Bird, Thomas D., Siskind, Carly E., Gaudet, Rachelle, Sumner, Charlotte J.
Publicado no Neurol Genet (2015)

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Por Chen, Dong-Hui, Below, Jennifer E., Shimamura, Akiko, Keel, Sioban B., Matsushita, Mark, Wolff, John, Sul, Youngmee, Bonkowski, Emily, Castella, Maria, Taniguchi, Toshiyasu, Nickerson, Deborah, Papayannopoulou, Thalia, Bird, Thomas D., Raskind, Wendy H.
Publicado no Am J Hum Genet (2016)

Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

Por Chen, Dong-Hui, Brkanac, Zoran, Verlinde, Christophe L. M. J., Tan, Xiao-Jian, Bylenok, Laura, Nochlin, David, Matsushita, Mark, Lipe, Hillary, Wolff, John, Fernandez, Magali, Cimino, P. J., Bird, Thomas D., Raskind, Wendy H.
Publicado em 2003

Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of their Functional Effects

Por Chen, Dong-Hui, Naydenov, Alipi, Blankman, Jacqueline L., Mefford, Heather C., Davis, Marie, Sul, Youngmee, Barloon, A. Samuel, Bonkowski, Emily, Wolff, John, Matsushita, Mark, Smith, Corrine, Cravatt, Benjamin F., Mackie, Ken, Raskind, Wendy H., Stella, Nephi, Bird, Thomas D.
Publicado em 2013

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Por Korvatska, Olena, Strand, Nicholas S., Berndt, Jason D., Strovas, Tim, Chen, Dong-Hui, Leverenz, James B., Kiianitsa, Konstantin, Mata, Ignacio F., Karakoc, Emre, Greenup, J. Lynne, Bonkowski, Emily, Chuang, Joseph, Moon, Randall T., Eichler, Evan E., Nickerson, Deborah A., Zabetian, Cyrus P., Kraemer, Brian C., Bird, Thomas D., Raskind, Wendy H.
Publicado em 2013

Gain-of-Function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia

Por Chen, Ying-Zhang, Friedman, Jennifer R., Chen, Dong-Hui, Chan, Guy C.-K., Bloss, Cinnamon S., Hisama, Fuki M., Topol, Sarah E., Carson, Andrew R., Pham, Phillip H., Bonkowski, Emily S., Scott, Erick R., Lee, Janel K., Zhang, Guangfa, Oliveira, Glenn, Xu, Jian, Zeeland, Ashley A. Scott-Van, Chen, Qi, Levy, Samuel, Topol, Eric J., Storm, Daniel, Swanson, Phillip D., Bird, Thomas D., Schork, Nicholas J., Raskind, Wendy H., Torkamani, Ali
Publicado no Ann Neurol (2014)

ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations

Por Chen, Dong-Hui, Méneret, Aurélie, Friedman, Jennifer R., Korvatska, Olena, Gad, Alona, Bonkowski, Emily S., Stessman, Holly A., Doummar, Diane, Mignot, Cyril, Anheim, Mathieu, Bernes, Saunder, Davis, Marie Y., Damon-Perrière, Nathalie, Degos, Bertrand, Grabli, David, Gras, Domitille, Hisama, Fuki M., Mackenzie, Katherine M., Swanson, Phillip D., Tranchant, Christine, Vidailhet, Marie, Winesett, Steven, Trouillard, Oriane, Amendola, Laura M., Dorschner, Michael O., Weiss, Michael, Eichler, Evan E., Torkamani, Ali, Roze, Emmanuel, Bird, Thomas D., Raskind, Wendy H.
Publicado no Neurology (2015)