PMC Links for Books (Select 1465300) - PMC

Select item 80283921.

Alexander disease: an astrocytopathy that produces a leukodystrophy

Alexander Sosunov, Markel Olabarria, James E. Goldman

Brain Pathol. 2018 May; 28(3): 388–398. Published online 2018 May 8. doi: 10.1111/bpa.12601

PMCID:: PMC8028392

Select item 79768312.

Alexander Disease: Diagnosis with MR Imaging

Marjo S. van der Knaap, Sakkubai Naidu, Steven N. Breiter, Susan Blaser, Hans Stroink, Stephan Springer, Jacobus C. Begeer, Rudy van Coster, Peter G. Barth, Neil H. Thomas, Jacob Valk, James M. Powers

AJNR Am J Neuroradiol. 2001 Mar; 22(3): 541–552.

PMCID:: PMC7976831

Abstract Article PDF–476K

Select item 74917033.

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.

Guy Helman, Asako Takanohashi, Tracy L. Hagemann, Ming D. Perng, Marzena Walkiewicz, Sarah Woidill, Sunetra Sase, Zachary Cross, Yangzhu Du, Ling Zhao, Amy Waldman, Bret C. Haake, Ali Fatemi, Michael Brenner, Omar Sherbini, Albee Messing, Adeline Vanderver, Cas Simons

Hum Mutat. Author manuscript; available in PMC 2021 Jun 1.

Published in final edited form as: Hum Mutat. 2020 Jun; 41(6): 1131–1137. Published online 2020 Mar 11. doi: 10.1002/humu.24008

Correction in:: Hum Mutat. 2022 Sep; 43(9): 1344.

PMCID:: PMC7491703

Abstract Article PDF–841K

Select item 58761004.

Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease

Tracy L. Hagemann, Berit Powers, Curt Mazur, Aneeza Kim, Steven Wheeler, Gene Hung, Eric Swayze, Albee Messing

Ann Neurol. Author manuscript; available in PMC 2019 Jan 14.

Published in final edited form as: Ann Neurol. 2018 Jan; 83(1): 27–39. Published online 2018 Jan 14. doi: 10.1002/ana.25118

PMCID:: PMC5876100

Abstract Article PDF–1.7M

Select item 54052355.

Clinical and genetic characterization of leukoencephalopathies in adults

David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lucia Inês Macedo-Souza, Rahul Lakshmanan, Justin A. Kinsella, Aine Merwick, Alexander M. Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J. Morrison, Deborah Hughes, Alan Pittman, Matilde Laurà, Mary M Reilly, Jason D Warren, Catherine J Mummery, Jonathan M. Schott, Matthew Adams, Nick C. Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden

Brain. 2017 May; 140(5): 1204–1211. Published online 2017 Mar 2. doi: 10.1093/brain/awx045

PMCID:: PMC5405235

Abstract Article PDF–604K

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 36749657.

Splice Site, Frameshift and Chimeric GFAP Mutations in Alexander Disease

Daniel Flint, Rong Li, Lital S. Webster, Sakkubai Naidu, Edwin Kolodny, Alan Percy, Marjo van der Knaap, James M. Powers, John F. Mantovani, Josef Ekstein, James E. Goldman, Albee Messing, Michael Brenner

Hum Mutat. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Hum Mutat. 2012 Jul; 33(7): 1141–1148. Published online 2012 Apr 30. doi: 10.1002/humu.22094

PMCID:: PMC3674965

Abstract Article PDF–1021K

Select item 36549538.

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi, Massimo Zeviani

Orphanet J Rare Dis. 2013; 8: 66. Published online 2013 May 1. doi: 10.1186/1750-1172-8-66

PMCID:: PMC3654953

Abstract Article PDF–1.2M

Select item 35745759.

Archetypal and New Families with Alexander Disease and Novel Mutations in GFAP

Albee Messing, Rong Li, Sakkubai Naidu, J. Paul Taylor, Lital Silverman, Daniel Flint, Marjo S. van der Knaap, Michael Brenner

Arch Neurol. Author manuscript; available in PMC 2013 Feb 16.

Published in final edited form as: Arch Neurol. 2012 Feb; 69(2): 208–214. Published online 2011 Oct 10. doi: 10.1001/archneurol.2011.1181

Correction in:: volume 69 on page 643

PMCID:: PMC3574575

Abstract Article PDF–2.8M

Select item 350684010.

A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy

Michito Namekawa, Yoshihisa Takiyama, Junko Honda, Kumi Sakoe, Tametou Naoi, Haruo Shimazaki, Takanori Yamagata, Mariko Y. Momoi, Imaharu Nakano

Neurol Sci. 2012; 33(6): 1389–1392. Published online 2011 Dec 24. doi: 10.1007/s10072-011-0902-z

PMCID:: PMC3506840

Abstract Article PDF–318K

Select item 317964911.

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

M. Prust, J. Wang, H. Morizono, A. Messing, M. Brenner, E. Gordon, T. Hartka, A. Sokohl, R. Schiffmann, H. Gordish-Dressman, R. Albin, H. Amartino, K. Brockman, A. Dinopoulos, M.T. Dotti, D. Fain, R. Fernandez, J. Ferreira, J. Fleming, D. Gill, M. Griebel, H. Heilstedt, P. Kaplan, D. Lewis, M. Nakagawa, R. Pedersen, A. Reddy, Y. Sawaishi, M. Schneider, E. Sherr, Y. Takiyama, K. Wakabayashi, J.R. Gorospe, A. Vanderver

Neurology. 2011 Sep 27; 77(13): 1287–1294. doi: 10.1212/WNL.0b013e3182309f72

PMCID:: PMC3179649

Abstract Article PDF–372K

Select item 155948112.

The Alexander Disease–Causing Glial Fibrillary Acidic Protein Mutant, R416W, Accumulates into Rosenthal Fibers by a Pathway That Involves Filament Aggregation and the Association of αB-Crystallin and HSP27

Ming Der Perng, Mu Su, Shu Fang Wen, Rong Li, Terry Gibbon, Alan R. Prescott, Michael Brenner, Roy A. Quinlan

Am J Hum Genet. 2006 Aug; 79(2): 197–213. Published online 2006 Jun 12. doi: 10.1086/504411

PMCID:: PMC1559481

Abstract Article PDF–4.2M

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