Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

od Solowska, Joanna M., Garbern, James Y., Baas, Peter W.
Izdano 2010

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

od Yi, Ling, Donsante, Anthony, Kennerson, Marina L., Mercer, Julian F.B., Garbern, James Y., Kaler, Stephen G.
Izdano 2012

Maintenance of the relative proportion of oligodendrocytes to axons even in the absence of BAX and BAK

od Kawai, Kumi, Itoh, Takayuki, Itoh, Aki, Horiuchi, Makoto, Wakayama, Kouji, Bannerman, Peter, Garbern, James Y., Pleasure, David, Lindsten, Tullia
Izdano 2009

Neuroradiologic correlates of clinical disability and progression in the X-Linked leukodystrophy Pelizaeus–Merzbacher disease

od Laukka, Jeremy J., Stanley, Jeffrey A., Garbern, James Y., Trepanier, Angela, Hobson, Grace, Lafleur, Tori, Gow, Alexander, Kamholz, John
Izdano 2013

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing

od Taube, Jennifer R., Sperle, Karen, Banser, Linda, Seeman, Pavel, Cavan, Barbra Charina V., Garbern, James Y., Hobson, Grace M.
Izdano 2014

Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease

od Goldberg, Allon, Schepens, Stacey L., Feely, Shawna M. E., Garbern, James Y., Miller, Lindsey J., Siskind, Carly E., Conti, Gerry E
Izdano 2010

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity

od Sundal, Christina, Lash, Jennifer, Aasly, Jan, ygarden, Sarka Ø, Roeber, Sigrun, Kretzschman, Hans, Garbern, James Y., Tselis, Alex, Rademakers, Rosa, Dickson, Dennis W., Broderick, Daniel, Wszolek, Zbigniew K.
Izdano 2011

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

od Garbern, James Y., Neumann, Manuela, Trojanowski, John Q., Lee, Virginia M.-Y., Feldman, Gerald, Norris, Joy W., Friez, Michael J., Schwartz, Charles E., Stevenson, Roger, Sima, Anders A. F.
Izdano 2010

Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1

od Sima, Anders A. F., Pierson, Christopher R., Woltjer, Randall L., Hobson, Grace M., Golden, Jeffrey A., Kupsky, William J., Schauer, Galen M., Bird, Thomas D., Skoff, Robert P., Garbern, James Y.
Izdano 2009

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

od Beck, Christine R., Carvalho, Claudia M. B., Banser, Linda, Gambin, Tomasz, Stubbolo, Danielle, Yuan, Bo, Sperle, Karen, McCahan, Suzanne M., Henneke, Marco, Seeman, Pavel, Garbern, James Y., Hobson, Grace M., Lupski, James R.
Izdano u PLoS Genet (2015)

Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

od Woodward, Karen J., Cundall, Maria, Sperle, Karen, Sistermans, Erik A., Ross, Mark, Howell, Gareth, Gribble, Susan M., Burford, Deborah C., Carter, Nigel P., Hobson, Donald L., Garbern, James Y., Kamholz, John, Heng, Henry, Hodes, M. E., Malcolm, Sue, Hobson, Grace M.
Izdano 2005

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

od Kennerson, Marina L., Nicholson, Garth A., Kaler, Stephen G., Kowalski, Bartosz, Mercer, Julian F.B., Tang, Jingrong, Llanos, Roxana M., Chu, Shannon, Takata, Reinaldo I., Speck-Martins, Carlos E., Baets, Jonathan, Almeida-Souza, Leonardo, Fischer, Dirk, Timmerman, Vincent, Taylor, Philip E., Scherer, Steven S., Ferguson, Toby A., Bird, Thomas D., De Jonghe, Peter, Feely, Shawna M.E., Shy, Michael E., Garbern, James Y.
Izdano 2010

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

od Guo, Long, Bertola, Débora Romeo, Takanohashi, Asako, Saito, Asuka, Segawa, Yuko, Yokota, Takanori, Ishibashi, Satoru, Nishida, Yoichiro, Yamamoto, Guilherme Lopes, Franco, José Francisco da Silva, Honjo, Rachel Sayuri, Kim, Chong Ae, Musso, Camila Manso, Timmons, Margaret, Pizzino, Amy, Taft, Ryan J., Lajoie, Bryan, Knight, Melanie A., Fischbeck, Kenneth H., Singleton, Andrew B., Ferreira, Carlos R., Wang, Zheng, Yan, Li, Garbern, James Y., Simsek-Kiper, Pelin O., Ohashi, Hirofumi, Robey, Pamela G., Boyde, Alan, Matsumoto, Naomichi, Miyake, Noriko, Spranger, Jürgen, Schiffmann, Raphael, Vanderver, Adeline, Nishimura, Gen, Passos-Bueno, Maria Rita dos Santos, Simons, Cas, Ishikawa, Kinya, Ikegawa, Shiro
Izdano u Am J Hum Genet (2019)