James Y. Garbern: search on Z-Library

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1

Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders

Hobson, Grace, Garbern, James

Journal:

Seminars in Neurology

Year:

2012

Language:

english

File:

PDF, 113 KB

english, 2012

2

Proteolipid protein mRNA stability is regulated by axonal contact in the rodent peripheral nervous system

Huiyuan Jiang, Cynthia S. Duchala, Raj Awatramani, Susan Shumas, Leon Carlock, John Kamholz, James Garbern, Steven S. Scherer, Michael E. Shy, Wendy B. Macklin

Journal:

Developmental Neurobiology

Year:

2000

Language:

english

File:

PDF, 331 KB

english, 2000

3

Gtx, an oligodendrocyte-specific homeodomain protein, has repressor activity

Raj Awatramani, Jacqueline Beesley, Huibin Yang, Huiyuan Jiang, Franca Cambi, Judith Grinspan, James Garbern, John Kamholz

Journal:

Journal of Neuroscience Research

Year:

2000

Language:

english

File:

PDF, 227 KB

english, 2000

4

Oligodendroglial Modulation of Fast Axonal Transport in a Mouse Model of Hereditary Spastic Paraplegia

Julia M. Edgar, Mark McLaughlin, Donald Yool, Su-Chun Zhang, Jill H. Fowler, Paul Montague, Jennifer A. Barrie, Mailis C. McCulloch, Ian D. Duncan, James Garbern, Klaus A. Nave and Ian R. Griffiths

Journal:

The Journal of Cell Biology

Year:

2004

Language:

english

File:

PDF, 3.87 MB

english, 2004

5

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease

Henry L. Paulson, James Y. Garbern, Timothy F. Hoban, Karen M. Krajewski, Richard A. Lewis, Kenneth H. Fischbeck, Robert I. Grossman, Robert Lenkinski, John A. Kamholz, Michael E. Shy

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 670 KB

english, 2002

6

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

Bingham, Peter M., Scott, Marion O., Wang, Suping, McPhaul, Michael J., Wilson, Elizabeth M., Garbern, James Y., Merry, Diane E., Fischbeck, Kenneth H.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 607 KB

1995

7

Corrigendum to “Nk6, a novel Drosophila homeobox gene regulated by vnd”: [Mech. Dev. 116 (2002) 105–116]

Jay Uhler, James Garbern, Li Yang, John Kamholz, Dervla M Mellerick

Journal:

Mechanisms of Development

Year:

2002

Language:

english

File:

PDF, 283 KB

english, 2002

8

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

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

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 670 KB

english, 2013

9

Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease

Gruenenfelder, Fredrik I, McLaughlin, Mark, Griffiths, Ian R, Garbern, James, Thomson, Gemma, Kuzman, Peter, Barrie, Jennifer A, McCulloch, Maj-lis, Penderis, Jacques, Stassart, Ruth, Nave, Klaus-Armi

Journal:

Year:

2020

File:

PDF, 1.36 MB

2020

10

R131: Auditory Testing Profiles of Pelizaeus-Merzbacher Disease

Giancarlo F. Zuliani, Diane Roeder, James Garbern, Alexander Gow, James M. Coticchia

Journal:

Otolaryngology - Head and Neck Surgery

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

11

Correlation between Weakness and Axonal Loss in Patients with CMT1A

KAREN KRAJEWSKI, CHERYL TURANSKY, RICHARD LEWIS, JAMES GARBERN, STEVEN HINDERER, JOHN KAMHOLZ, MICHAEL E. SHY

Journal:

Annals of the New York Academy of Sciences

Year:

1999

File:

PDF, 188 KB

1999

12

[Blue Books of Neurology] Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias Volume 31 || Chapter 17 X-Linked Spastic Paraplegia

Year:

2007

Language:

english

File:

PDF, 573 KB

english, 2007

13

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, William J. Kupsky, Galen M. Schauer, Thomas D. Bird, Robert P. Skoff, James Y. Garbern

Journal:

Acta Neuropathologica

Year:

2009

Language:

english

File:

PDF, 406 KB

english, 2009

14

Differential Expression of the Homeobox Gene Hox-1.3 in F9 Embryonal Carcinoma Cells

Shawn P. Murphy, James Garbern, Ward F. Odenwald, Robert A. Lazzarini and Elwood Linney

Journal:

Proceedings of the National Academy of Sciences

Year:

1988

Language:

english

File:

PDF, 1.17 MB

english, 1988

15

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, Peter Bannerman, James Y. Garbern, David Pleasure, Tullia Lindsten

Journal:

European Journal of Neuroscience

Year:

2009

Language:

english

File:

PDF, 1.34 MB

english, 2009

16

Purification and Characterization of Clathrin from Bovine Brain

James Y. Garbern, Jang-Yen Wu

Journal:

Journal of Neurochemistry

Year:

1981

Language:

english

File:

PDF, 1.95 MB

english, 1981

17

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

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,

Journal:

Year:

2015

Language:

english

File:

PDF, 1.47 MB

english, 2015

18

Feasibility and Accuracy of a Wearable Biosensor Device for Vital Sign Monitoring in Septic Emergency Department Patients in Rwanda

Garbern, Stephanie, Mbanjumucyo, Gabin, Umuhoza, Christian, Sharma, Vinay, Mackey, James, Martin, Kyle, Twagirumukiza, Francois, Rosman, Samantha, McCall, Natalie, Wegerich, Stephan, Levine, Adam

Journal:

Prehospital and Disaster Medicine

Year:

2019

File:

PDF, 97 KB

2019

19

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

JAMES Y. GARBERN, FRANCA CAMBI, RICHARD LEWIS, MICHAEL SHY, ANDERS SIMA, GEORGE KRAFT, J. M. VALLAT, E. P. BOSCH, M. E. HODES, STEPHEN DLOUHY, WENDY RASKIND, THOMAS BIRD, WENDY MACKLIN, JOHN KAMHOLZ

Journal:

Annals of the New York Academy of Sciences

Year:

1999

File:

PDF, 8.37 MB

1999

20

Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease

Hurst, Stephanie, Garbern, James, Trepanier, Angela, Gow, Alexander

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 317 KB

english, 2006

21

Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell line

George Q. Perrin, Lauren Fishbein, Susanne A. Thomson, Stacey L. Thomas, Karen Stephens, James Y. Garbern, George H. DeVries, Anthony T. Yachnis, Margaret R. Wallace, David Muir

Journal:

Journal of Neuroscience Research

Year:

2007

Language:

english

File:

PDF, 440 KB

english, 2007

22

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

Karen J. Woodward, Maria Cundall, Karen Sperle, Erik A. Sistermans, Mark Ross, Gareth Howell, Susan M. Gribble, Deborah C. Burford, Nigel P. Carter, Donald L. Hobson, James Y. Garbern, John Kamholz, H

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 2.85 MB

english, 2005

23

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, Carly E. Siskind, Gerry E. Conti

Journal:

Journal of the Neurological Sciences

Year:

2010

Language:

english

File:

PDF, 196 KB

english, 2010

24

Case definition and classification of leukodystrophies and leukoencephalopathies

Vanderver, Adeline, Prust, Morgan, Tonduti, Davide, Mochel, Fanny, Hussey, Heather M., Helman, Guy, Garbern, James, Eichler, Florian, Labauge, Pierre, Aubourg, Patrick, Rodriguez, Diana, Patterson, Ma

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 279 KB

english, 2015

25

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes

Grace M. Hobson, Zhong Huang, Karen Sperle, Erik Sistermans, Peter K. Rogan, James Y. Garbern, Edwin Kolodny, Sakkubai Naidu, Franca Cambi

Journal:

Year:

2006

Language:

english

File:

PDF, 236 KB

english, 2006

26

Characterizing iron deposition in multiple sclerosis lesions using susceptibility weighted imaging

E. Mark Haacke, Malek Makki, Yulin Ge, Megha Maheshwari, Vivek Sehgal, Jiani Hu, Madeswaran Selvan, Zhen Wu, Zahid Latif, Yang Xuan, Omar Khan, James Garbern, Robert I. Grossman

Journal:

Journal of Magnetic Resonance Imaging

Year:

2009

Language:

english

File:

PDF, 607 KB

english, 2009

27

Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations

Laukka, Jeremy J., Makki, Malek I., Lafleur, Tori, Stanley, Jeffrey, Kamholz, John, Garbern, James Y.

Journal:

Journal of Neuroscience Research

Year:

2014

Language:

english

File:

PDF, 386 KB

english, 2014

28

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene

Eun Sil Lee, Han Ku Moon, Yong Hoon Park, James Garbern, Grace M. Hobson

Journal:

Journal of the Neurological Sciences

Year:

2004

Language:

english

File:

PDF, 177 KB

english, 2004

29

Glia-Specific Activation of All Pathways of the Unfolded Protein Response in Vanishing White Matter Disease

van Kollenburg, Barbara, van Dijk, Jantine, Garbern, James, Thomas, Adri A. M., Scheper, Gert C., Powers, James M., van der Knaap, Marjo S.

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2006

Language:

english

File:

PDF, 482 KB

english, 2006

30

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

Ingrid K. Svenson, Mark T. Kloos, P. Craig Gaskell, Martha A. Nance, James Y. Garbern, Shin-ichi Hisanaga, Margaret A. Pericak-Vance, Allison E. Ashley-Koch, Douglas A. Marchuk

Journal:

Year:

2004

Language:

english

File:

PDF, 222 KB

english, 2004

31

Auditory testing profiles of Pelizaeus-Merzbacher disease

James M. Coticchia, M.A. Diane Roeder, Giancarlo F. Zuliani, Alexander Gow, James Y. Garbern

Journal:

International Journal of Pediatric Otorhinolaryngology Extra

Year:

2011

Language:

english

File:

PDF, 330 KB

english, 2011

32

The Molecular Pathogenesis of Pelizaeus-Merzbacher Disease

Garbern, James, Cambi, Franca, Shy, Michael, Kamholz, John

Journal:

Archives of Neurology

Year:

1999

Language:

english

File:

PDF, 188 KB

english, 1999

33

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

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 190 KB

english, 2009

34

Extensive aspartoacylase expression in the rat central nervous system

John R. Moffett, Peethambaran Arun, Prasanth S. Ariyannur, James Y. Garbern, David M. Jacobowitz, Aryan M. A. Namboodiri

Journal:

Year:

2011

Language:

english

File:

PDF, 2.99 MB

english, 2011

35

Hereditary motor and sensory neuropathies: a biological perspective

Michael E Shy, James Y Garbern, John Kamholz

Journal:

The Lancet Neurology

Year:

2002

Language:

english

File:

PDF, 595 KB

english, 2002

36

Nk6, a novel Drosophila homeobox gene regulated by vnd

Jay Uhler, James Garbern, Li Yang, John Kamholz, Dervla M. Mellerick

Journal:

Mechanisms of Development

Year:

2002

Language:

english

File:

PDF, 1.07 MB

english, 2002

37

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy

Michael E. Shy, Grace Hobson, Manisha Jain, Odile Boespflug-Tanguy, James Garbern, Karen Sperle, Wen Li, Alex Gow, Diana Rodriguez, Enrico Bertini, Pedro Mancias, Karen Krajewski, Richard Lewis, John

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 1.25 MB

english, 2003

38

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

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

Journal:

Journal of the Neurological Sciences

Year:

2012

Language:

english

File:

PDF, 947 KB

english, 2012

39

Neuro-Ophthalmologic Features of Spinocerebellar Ataxia Type 7

Miller, Randee C, Tewari, Aash, Miller, Joel A, Garbern, James, Van Stavern, Gregory P

Journal:

Journal of Neuro-Ophthalmology

Year:

2009

Language:

english

File:

PDF, 306 KB

english, 2009

40

Pelizaeus–Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system

James Y. Garbern

Journal:

Journal of the Neurological Sciences

Year:

2005

Language:

english

File:

PDF, 261 KB

english, 2005

41

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration

Jun Li, Yunhong Bai, Emilia Ianakova, Marina Grandis, Fred Uchwat, Anna Trostinskaia, Karen M. Krajewski, James Garbern, William J. Kupsky, Michael E. Shy

Journal:

The Journal of Comparative Neurology

Year:

2006

Language:

english

File:

PDF, 1.46 MB

english, 2006

42

The Unfolded Protein Response Modulates Disease Severity in Pelizaeus-Merzbacher Disease

Cherie M Southwood, James Garbern, Wei Jiang, Alexander Gow

Journal:

Year:

2002

Language:

english

File:

PDF, 647 KB

english, 2002

43

Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin

James Y Garbern, Franca Cambi, Xue-Ming Tang, Anders A.F Sima, Jean Michel Vallat, E.Peter Bosch, Richard Lewis, Michael Shy, Jasloveleen Sohi, George Kraft, Ke Lian Chen, Indira Joshi, Debra G.B Leon

Journal:

Year:

1997

Language:

english

File:

PDF, 713 KB

english, 1997

44

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect

Jennifer A. Lee, Ricardo E. Madrid, Karen Sperle, Carolyn M. Ritterson, Grace M. Hobson, James Garbern, James R. Lupski, Ken Inoue

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 638 KB

english, 2006

45

Prenatal diagnosis of Pelizaeus-Merzbacher disease

James Garbern, Grace Hobson

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

46

Persistent CNS dysfunction in a boy with CMT1X

Carly Siskind, Shawna M.E. Feely, Saunder Bernes, Michael E. Shy, James Y. Garbern

Journal:

Journal of the Neurological Sciences

Year:

2009

Language:

english

File:

PDF, 469 KB

english, 2009

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