Publications by authors named "James Garbern"

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Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease.
Fredrik I Gruenenfelder, Mark McLaughlin, Ian R Griffiths, James Garbern, Gemma Thomson

Brain· May 2020

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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Long Guo, Débora Romeo Bertola, Asako Takanohashi, Asuka Saito, Yuko Segawa, James Y Garbern

Am J Hum Genet· May 2019

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Case definition and classification of leukodystrophies and leukoencephalopathies.
Adeline Vanderver, Morgan Prust, Davide Tonduti, Fanny Mochel, Heather M Hussey, James Garbern

Mol Genet Metab· April 2015

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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, James Y Garbern

PLoS Genet· March 2015

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Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.
Jeremy J Laukka, Malek I Makki, Tori Lafleur, Jeffrey Stanley, John Kamholz, James Y Garbern

J Neurosci Res· December 2014

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PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
Jennifer R Taube, Karen Sperle, Linda Banser, Pavel Seeman, Barbra Charina V Cavan, James Y Garbern

Hum Mol Genet· October 2014

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Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease.
Jeremy J Laukka, Jeffrey A Stanley, James Y Garbern, Angela Trepanier, Grace Hobson

J Neurol Sci· December 2013

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Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.
Christina Sundal, Shinsuke Fujioka, Jay A Van Gerpen, Christian Wider, Alexandra M Nicholson, James Garbern

Parkinsonism Relat Disord· October 2013

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Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Rita-Eva Varga, Rebecca Schüle, Hicham Fadel, Irene Valenzuela, Fiorella Speziani, James Y Garbern

Hum Mutat· June 2013

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MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
Christina Sundal, Jay A Van Gerpen, Alexandra M Nicholson, Christian Wider, Elizabeth A Shuster, James Garbern

Neurology· August 2012

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Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
Ling Yi, Anthony Donsante, Marina L Kennerson, Julian F B Mercer, James Y Garbern

Hum Mol Genet· April 2012

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Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.
Christina Sundal, Jennifer Lash, Jan Aasly, Sarka Øygarden, Sigrun Roeber, James Y Garbern

J Neurol Sci· March 2012

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Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
Grace M Hobson, James Y Garbern

Semin Neurol· February 2012

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Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
Rosa Rademakers, Matt Baker, Alexandra M Nicholson, Nicola J Rutherford, NiCole Finch, James Garbern

Nat Genet· December 2011

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Extensive aspartoacylase expression in the rat central nervous system.
John R Moffett, Peethambaran Arun, Prasanth S Ariyannur, James Y Garbern, David M Jacobowitz

Glia· October 2011

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Auditory testing profiles of Pelizaeus-Merzbacher disease.
James M Coticchia, M A Diane Roeder, Giancarlo F Zuliani, Alexander Gow, James Y Garbern

Int J Pediatr Otorhinolaryngol Extra· January 2011

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Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease.
Allon Goldberg, Stacey L Schepens, Shawna M E Feely, James Y Garbern, Lindsey J Miller

J Neurol Sci· November 2010

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Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
Joanna M Solowska, James Y Garbern, Peter W Baas

Hum Mol Genet· July 2010

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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
James Y Garbern, Manuela Neumann, John Q Trojanowski, Virginia M-Y Lee, Gerald Feldman

Brain· May 2010

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Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Marina L Kennerson, Garth A Nicholson, Stephen G Kaler, Bartosz Kowalski, Julian F B Mercer, James Y Garbern

Am J Hum Genet· March 2010

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Maintenance of the relative proportion of oligodendrocytes to axons even in the absence of BAX and BAK.
Kumi Kawai, Takayuki Itoh, Aki Itoh, Makoto Horiuchi, Kouji Wakayama, James Y Garbern

Eur J Neurosci· December 2009

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Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
Anders A F Sima, Christopher R Pierson, Randall L Woltjer, Grace M Hobson, Jeffrey A Golden, James Y Garbern

Acta Neuropathol· October 2009

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Neuro-ophthalmologic features of spinocerebellar ataxia type 7.
Randee C Miller, Aash Tewari, Joel A Miller, James Garbern, Gregory P Van Stavern

J Neuroophthalmol· September 2009

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Characterizing iron deposition in multiple sclerosis lesions using susceptibility weighted imaging.
E Mark Haacke, Malek Makki, Yulin Ge, Megha Maheshwari, Vivek Sehgal, James Garbern

J Magn Reson Imaging· March 2009

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An intergenerational contraction of a fully penetrant Huntington disease allele to a reduced penetrance allele: interpretation of results and significance for risk assessment and genetic counseling.
Fatimah Nahhas, James Garbern, Shawna Feely, Gerald L Feldman

Am J Med Genet A· February 2009

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