Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis von Garbern, J Y

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Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation von GARBERN, James Y, YOOL, Donald A, SHY, Michael E, KAMHOLZ, John A, GRIFFITHS, Ian R, MOORE, Gregory J, WILDS, Ian B, FAULK, Michael W, KLUGMANN, Matthias, NAVE, Klaus-Amin, SISTERMANS, Erik A, VAN DER KNAAP, Marjo S, BIRD, Thomas D

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

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Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation von GORMAN, M. P, GOLOMB, M. R, WALSH, L. E, HOBSON, G. M, GARBERN, J. Y, KINKEL, R. P, DARRAS, B. T, URION, D. K, EKSIOGLU, Y. Z

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Cerebellar leukoencephalopathy : Most likely histiocytosis-related von VAN DER KNAAP, M. S, ARTS, W. F. M, GOMEZ, C, PATTERSON, M. C, GRATTAN-SMITH, P, TIMMONS, M, VAN DER VALK, P, GARBERN, J. Y, HEDLUND, G, WINKLER, F, BARBOSA, C, KING, M. D, BJØRNSTAD, A, HUSSAIN, N, BEYER, M. K

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17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome von Girirajan, S, Williams, SR, Garbern, JY, Nowak, N, Hatchwell, E, Elsea, SH

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Phenotypic clustering in MPZ mutations von Shy, Michael E., Jáni, Agnes, Krajewski, Karen, Grandis, Marina, Lewis, Richard A., Li, Jun, Shy, Rosemary R., Balsamo, Janne, Lilien, Jack, Garbern, James Y., Kamholz, John

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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease von Wolf, Nicole I., Sistermans, Erik A., Cundall, Maria, Hobson, Grace M., Davis-Williams, Angelique P., Palmer, Rodger, Stubbs, Paula, Davies, Sally, Endziniene, Milda, Wu, Yvonne, Chong, Wui K., Malcolm, Sue, Surtees, Robert, Garbern, James Y., Woodward, Karen J.

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Prion disease (PrP-A117V) presenting with ataxia instead of dementia von MASTRIANNI, J. A, CURTIS, M. T, OBERHOLTZER, J. C, DA COSTA, M. M, DEARMOND, S, PRUSINER, S. B, GARBERN, J. Y

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α-Amino-3-hydroxy-5-methylisoxazole-4-propionic acid-mediated excitotoxic axonal damage is attenuated in the absence of myelin proteolipid protein von Fowler, J.H., Edgar, J.M., Pringle, A., McLaughlin, M., McCulloch, J., Griffiths, I.R., Garbern, J.Y., Nave, K.A., Dewar, D.

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Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin von Garbern, James Y, Cambi, Franca, Tang, Xue-Ming, Sima, Anders A.F, Vallat, Jean Michel, Bosch, E.Peter, Lewis, Richard, Shy, Michael, Sohi, Jasloveleen, Kraft, George, Chen, Ke Lian, Joshi, Indira, Leonard, Debra G.B, Johnson, William, Raskind, Wendy, Dlouhy, Stephen R, Pratt, Victoria, Hodes, M.Edward, Bird, Thomas, Kamholz, John

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A prospective, open-label treatment trial to compare the effect of IFN beta -1a (Avonex super( registered )), IFN beta -1b (Betaseron super( registered )), and glatiramer acetate (... von Khan, O A, Tselis, A C, Kamholz, JA, Garbern, J Y, Lewis, R A, Lisak, R P

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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 von Varga, Rita-Eva, Schüle, Rebecca, Fadel, Hicham, Valenzuela, Irene, Speziani, Fiorella, Gonzalez, Michael, Rudenskaia, Galina, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Alvarez, Victoria, Gamez, Josep, Garbern, James Y., Nürnberg, Peter, Zuchner, Stephan, Beetz, Christian

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Effect of monthly intravenous cyclophosphamide in rapidly deteriorating multiple sclerosis patients resistant to conventional therapy von Khan, Omar A, Zvartau-Hind, Marina, Caon, Christina, Din, Moeen U, Cochran, Mickey, Lisak, Deena, Tselis, Alexandros C, Kamholz, John A, Garbern, James Y, Lisak, Robert P

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Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice von Bingham, Peter M., Scott, Marion O., Wang, Suping, McPhaul, Michael J., Wilson, Elizabeth M., Garbern, James Y., Merry, Diane E., Fischbeck, Kenneth H.

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Facioscapulohumeral muscular dystrophy defect identified von Fischbeck, K. H., Garbern, J. Y.

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Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease von Paulson, Henry L., Garbern, James Y., Hoban, Timothy F., Krajewski, Karen M., Lewis, Richard A., Fischbeck, Kenneth H., Grossman, Robert I., Lenkinski, Robert, Kamholz, John A., Shy, Michael E.

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

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Hereditary motor and sensory neuropathies: a biological perspective von Shy, Michael E, Garbern, James Y, Kamholz, John

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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 – re... von Khan, O.A., Tselis, A.C., Kamholz, J.A., Garbern, J.Y., Lewis, R.A., Lisak, R.P.

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