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

Por Solowska, Joanna M., Garbern, James Y., Baas, Peter W.
Publicado em 2010

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

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

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

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

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

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

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

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

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

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

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

Por 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.
Publicado em 2011

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

Por 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.
Publicado em 2010

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

Por 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.
Publicado em 2009

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Por 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.
Publicado no PLoS Genet (2015)

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

Por 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.
Publicado em 2005

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

Por 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.
Publicado em 2010