au.\*:("GARBERN, James Y")
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Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system : The science of myelinGARBERN, James Y.Journal of the neurological sciences. 2005, Vol 228, Num 2, pp 201-203, issn 0022-510X, 3 p.Conference Paper
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegiaSOLOWSKA, Joanna M; GARBERN, James Y; BAAS, Peter W et al.Human molecular genetics (Print). 2010, Vol 19, Num 14, pp 2767-2779, issn 0964-6906, 13 p.Article
Persistent CNS dysfunction in a boy with CMT1XSISKIND, Carly; FEELY, Shawna M. E; BERNES, Saunder et al.Journal of the neurological sciences. 2009, Vol 279, Num 1-2, pp 109-113, issn 0022-510X, 5 p.Article
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutationsSVENSON, Ingrid K; KLOOS, Mark T; GASKELL, P. Craig et al.Neurogenetics (Oxford. Print). 2004, Vol 5, Num 3, pp 157-164, issn 1364-6745, 8 p.Article
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entitySUNDAL, Christina; LASH, Jennifer; BRODERICK, Daniel et al.Journal of the neurological sciences. 2012, Vol 314, Num 1-2, pp 130-137, issn 0022-510X, 8 p.Article
Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor NeuropathyKENNERSON, Marina L; NICHOLSON, Garth A; BAETS, Jonathan et al.American journal of human genetics. 2010, Vol 86, Num 3, pp 343-352, issn 0002-9297, 10 p.Article
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammationGARBERN, James Y; YOOL, Donald A; SHY, Michael E et al.Brain. 2002, Vol 125, pp 551-561, issn 0006-8950, 3Article
A prospective, open-label treatment trial to compare the effect of IFNβ-1a (Avonex®), IFNβ-1b (Betaseron®), and glatiramer acetate (Copaxone®) on the relapse rate in relapsing- remitting multiple sclerosis: results after 18 months of therapyKHAN, Omar A; TSELIS, Alexandros C; KAMHOLZ, John A et al.Multiple sclerosis. 2001, Vol 7, Num 6, pp 349-353, issn 1352-4585Article
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathyLING YI; DONSANTE, Anthony; KENNERSON, Marina L et al.Human molecular genetics (Print). 2012, Vol 21, Num 8, pp 1794-1807, issn 0964-6906, 14 p.Article
Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington diseaseGOLDBERG, Allon; SCHEPENS, Stacey L; FEELY, Shawna M. E et al.Journal of the neurological sciences. 2010, Vol 298, Num 1-2, pp 91-95, issn 0022-510X, 5 p.Article
Heterogeneous duplications in patients with pelizaeus-merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombinationWOODWARD, Karen J; CUNDALL, Maria; GARBERN, James Y et al.American journal of human genetics. 2005, Vol 77, Num 6, pp 966-987, issn 0002-9297, 22 p.Article
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth diseasePAULSON, Henry L; GARBERN, James Y; HOBAN, Timothy F et al.Annals of neurology. 2002, Vol 52, Num 4, pp 429-434, issn 0364-5134Article
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher diseaseWOLF, Nicole I; SISTERMANS, Erik A; CHONG, Wui K et al.Brain. 2005, Vol 128, pp 743-751, issn 0006-8950, 9 p., 4Article
Phenotypic clustering in MPZ mutationsSHY, Michael E; JANI, Agnes; KANIHOLZ, John et al.Brain. 2004, Vol 127, pp 371-384, issn 0006-8950, 14 p., 2Article
Effect of monthly intravenous cyclophosphamide in rapidly deteriorating multiple sclerosis patients resistant to conventional therapyKHAN, Omar A; ZVARTAU-HIND, Marina; CAON, Christina et al.Multiple sclerosis. 2001, Vol 7, Num 3, pp 185-188, issn 1352-4585Article