PMC Links for Books (Select 1475652) - PMC

Select item 61752381.

Natural History of Vanishing White Matter

Eline M. C. Hamilton, Hannemieke D. W. van der Lei, Gerre Vermeulen, Jan A. M. Gerver, Charles M. Lourenço, Sakkubai Naidu, Hanna Mierzewska, Reinoud J. B. J. Gemke, Henrica C. W. de Vet, Bernard M. J. Uitdehaag, Birgit I. Lissenberg‐Witte, VWM Research Group, Marjo S. van der Knaap

Ann Neurol. 2018 Aug; 84(2): 274–288. Published online 2018 Sep 6. doi: 10.1002/ana.25287

PMCID:: PMC6175238

Abstract Article PDF–1.0M

Select item 60573092.

A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter

D. Hettiaracchchi, N. Neththikumara, B. A. P. S. Pathirana, A. Padeniya, V. H. W. Dissanayake

Case Rep Pediatr. 2018; 2018: 2731039. Published online 2018 Jul 5. doi: 10.1155/2018/2731039

PMCID:: PMC6057309

Article PDF–1.4M

Select item 58387853.

Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter

Prisca S. Leferink, Nicole Breeuwsma, Marianna Bugiani, Marjo S. van der Knaap, Vivi M. Heine

Glia. 2018 Apr; 66(4): 862–873. Published online 2017 Dec 29. doi: 10.1002/glia.23289

PMCID:: PMC5838785

Abstract Article PDF–2.2M

Select item 55886534.

Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene

Vykuntaraju K. Gowda, Varun M. Srinivasan, Maya Bhat, Asha Benakappa

J Pediatr Neurosci. 2017 Apr-Jun; 12(2): 196–198. doi: 10.4103/jpn.JPN_183_16

PMCID:: PMC5588653

Abstract Article

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 49744126.

Diabetic ketoacidosis in vanishing white matter

Hannadi Alamri, Fuad Al Mutairi, Johara Alothman, Ali Alothaim, Majid Alfadhel, Ahmed Alfares

Clin Case Rep. 2016 Aug; 4(8): 717–720. Published online 2016 Jun 17. doi: 10.1002/ccr3.597

PMCID:: PMC4974412

Abstract Article PDF–790K

Select item 43565457.

Fifteen Novel EIF2B1-5 Mutations Identified in Chinese Children with Leukoencephalopathy with Vanishing White Matter and a Long Term Follow-Up

Haihua Zhang, Lifang Dai, Na Chen, Lili Zang, Xuerong Leng, Li Du, Jingmin Wang, Yuwu Jiang, Feng Zhang, Xiru Wu, Ye Wu

PLoS One. 2015; 10(3): e0118001. Published online 2015 Mar 11. doi: 10.1371/journal.pone.0118001

PMCID:: PMC4356545

Abstract Article PDF–2.9M

Select item 41354378.

Defective Glial Maturation in Vanishing White Matter Disease

Marianna Bugiani, Ilja Boor, Barbara van Kollenburg, Nienke Postma, Emiel Polder, Carola van Berkel, Ronald E. van Kesteren, Martha S. Windrem, Elly M. Hol, Gert C. Scheper, Steven A. Goldman, Marjo S. van der Knaap

J Neuropathol Exp Neurol. Author manuscript; available in PMC 2014 Aug 18.

Published in final edited form as: J Neuropathol Exp Neurol. 2011 Jan; 70(1): 69–82. doi: 10.1097/NEN.0b013e318203ae74

PMCID:: PMC4135437

Abstract Article PDF–3.0M

Select item 27894069.

Eukaryotic Initiation Factor 2B (eIF2B) GEF Activity as a Diagnostic Tool for EIF2B-Related Disorders

Laetitia Horzinski, Aurélia Huyghe, Marie-Céleste Cardoso, Céline Gonthier, Lemlih Ouchchane, Raphael Schiffmann, Pierre Blanc, Odile Boespflug-Tanguy, Anne Fogli

PLoS One. 2009; 4(12): e8318. Published online 2009 Dec 15. doi: 10.1371/journal.pone.0008318

PMCID:: PMC2789406

Abstract Article PDF–225K

Select item 118049910.

Marjo S. van der Knaap, Carola G. M. van Berkel, Jochen Herms, Rudy van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A. A. P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christopher G. Proud, Gert C. Scheper, Jan C. Pronk

Am J Hum Genet. 2003 Nov; 73(5): 1199–1207. Published online 2003 Oct 17. doi: 10.1086/379524

PMCID:: PMC1180499

Abstract Article PDF–411K

Select item 118031411.

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

Anne Fogli, Diana Rodriguez, Eléonore Eymard-Pierre, Françoise Bouhour, Pierre Labauge, Brandon F. Meaney, Susan Zeesman, Christine R. Kaneski, Raphael Schiffmann, Odile Boespflug-Tanguy

Am J Hum Genet. 2003 Jun; 72(6): 1544–1550. Published online 2003 Apr 21. doi: 10.1086/375404

PMCID:: PMC1180314

Abstract Article PDF–209K

Select item 38166412.

Mutations Linked to Leukoencephalopathy with Vanishing White Matter Impair the Function of the Eukaryotic Initiation Factor 2B Complex in Diverse Ways

Wei Li, Xuemin Wang, Marjo S. van der Knaap, Christopher G. Proud

Mol Cell Biol. 2004 Apr; 24(8): 3295–3306. doi: 10.1128/MCB.24.8.3295-3306.2004

PMCID:: PMC381664

Abstract Article PDF–473K

Select item 35585613.

Mutations Causing Childhood Ataxia with Central Nervous System Hypomyelination Reduce Eukaryotic Initiation Factor 2B Complex Formation and Activity

Jonathan P. Richardson, Sarah S. Mohammad, Graham D. Pavitt

Mol Cell Biol. 2004 Mar; 24(6): 2352–2363. doi: 10.1128/MCB.24.6.2352-2363.2004

PMCID:: PMC355856

Abstract Article PDF–558K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 13

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity