PMC Articles for MedGen (Select 1681210) - PMC

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Next >Last >>

Select item 89131831.

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature

Purvi Majethia, Shivani Mishra, Lakshmi Priya Rao, Raghavendra Rao, Anju Shukla

Eur J Med Genet. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Eur J Med Genet. 2021 Sep; 64(9): 104266. Published online 2021 Jun 20. doi: 10.1016/j.ejmg.2021.104266

PMCID:: PMC8913183

Abstract Article PDF–651K

Select item 57088492.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Florian Eichler, Christine Duncan, Patricia L. Musolino, Paul J. Orchard, Satiro De Oliveira, Adrian J. Thrasher, Myriam Armant, Colleen Dansereau, Troy C. Lund, Weston P. Miller, Gerald V. Raymond, Raman Sankar, Ami J. Shah, Caroline Sevin, H. Bobby Gaspar, Paul Gissen, Hernan Amartino, Drago Bratkovic, Nicholas J.C. Smith, Asif M. Paker, Esther Shamir, Tara O’Meara, David Davidson, Patrick Aubourg, David A. Williams

N Engl J Med. Author manuscript; available in PMC 2018 Apr 26.

Published in final edited form as: N Engl J Med. 2017 Oct 26; 377(17): 1630–1638. Published online 2017 Oct 4. doi: 10.1056/NEJMoa1700554

PMCID:: PMC5708849

Abstract Article PDF–763K

Select item 53746713.

The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease

Alexander A. Sosunov, Guy M. McKhann, II, James E. Goldman

Acta Neuropathol Commun. 2017; 5: 27. Published online 2017 Mar 31. doi: 10.1186/s40478-017-0425-9

PMCID:: PMC5374671

Abstract Article PDF–8.7M

Select item 54052354.

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 54211735.

Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Xiao-Jing Fang, Meng Yu, Yuan Wu, Zi-Hao Zhang, Wei-Wei Wang, Zhao-Xia Wang, Yun Yuan

Chin Med J (Engl) 2017 May 5; 130(9): 1042–1048. doi: 10.4103/0366-6999.204935

PMCID:: PMC5421173

Abstract Article PDF–945K

Select item 54217866.

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong

PLoS One. 2017; 12(5): e0177296. Published online 2017 May 8. doi: 10.1371/journal.pone.0177296

PMCID:: PMC5421786

Abstract Article PDF–6.3M

Select item 54737157.

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

Viorica Chelban, Nisha Patel, Jana Vandrovcova, M. Natalia Zanetti, David S. Lynch, Mina Ryten, Juan A. Botía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou, Indran Davagnanam, SYNAPSE Study Group, Fahad A. Bashiri, Nicholas W. Wood, James E. Rothman, Fowzan S. Alkuraya, Henry Houlden

Am J Hum Genet. 2017 Jun 1; 100(6): 969–977. Published online 2017 Jun 1. doi: 10.1016/j.ajhg.2017.05.009

PMCID:: PMC5473715

Abstract Article PDF–1.9M

Select item 54773678.

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB

Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon

Eur J Hum Genet. 2017 Jun; 25(6): 775–778. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.39

PMCID:: PMC5477367

Abstract Article PDF–2.1M

Select item 54815709.

A split-luciferase complementation, real-time reporting assay enables monitoring of the disease-associated transmembrane protein TREM2 in live cells

Megan M. Varnum, Kevin A. Clayton, Asuka Yoshii-Kitahara, Grant Yonemoto, Lacin Koro, Seiko Ikezu, Tsuneya Ikezu

J Biol Chem. 2017 Jun 23; 292(25): 10651–10663. Published online 2017 May 10. doi: 10.1074/jbc.M116.759159

PMCID:: PMC5481570

Abstract Article PDF–2.5M

Select item 548788410.

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

E. Jurkiewicz, D. Dunin-Wąsowicz, D. Gieruszczak-Białek, K. Malczyk, K. Guerrero, M. Gutierrez, L. Tran, G. Bernard

Clin Neuroradiol. 2017; 27(2): 213–220. Published online 2015 Oct 19. doi: 10.1007/s00062-015-0472-1

PMCID:: PMC5487884

Abstract Article PDF–785K

Select item 555818211.

Yunis-Varón syndrome caused by biallelic VAC14 mutations

Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Care4Rare Consortium, Philippe M Campeau, Kym M Boycott, Jean Michaud, André BP van Kuilenburg, Sacha Ferdinandusse, David A Dyment

Eur J Hum Genet. 2017 Sep; 25(9): 1049–1054. Published online 2017 Jun 21. doi: 10.1038/ejhg.2017.99

PMCID:: PMC5558182

Abstract Article PDF–1.6M

Select item 556433212.

Automated segmentation reveals silent radiographic progression in adult-onset vanishing white-matter disease

Thomas Huber, Marina Herwerth, Esther Alberts, Jan S Kirschke, Claus Zimmer, Ruediger Ilg

Neuroradiol J. 2017 Feb; 30(1): 5–9. Published online 2016 Nov 19. doi: 10.1177/1971400916678222

PMCID:: PMC5564332

Abstract Article

Select item 560202013.

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease

Michael Nafisinia, Nara Sobreira, Lisa Riley, Wendy Gold, Birgit Uhlenberg, Claudia Weiß, Corinne Boehm, Kristina Prelog, Robert Ouvrier, John Christodoulou

Eur J Hum Genet. 2017 Oct; 25(10): 1134–1141. Published online 2017 Jul 26. doi: 10.1038/ejhg.2017.119

PMCID:: PMC5602020

Abstract Article PDF–1.3M

Select item 566430414.

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Eline M.C. Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Judy Liu, Adeline Vanderver, Julian Curiel, Claudia M. Persoon, Daria Diodato, Lorenzo Pinelli, Nathalie L. van der Meij, Barbara Plecko, Susan Blaser, Nicole I. Wolf, Quinten Waisfisz, Truus E.M. Abbink, Marjo S. van der Knaap, On behalf of the Recessive H-ABC Research Group

Neurology. 2017 Oct 24; 89(17): 1821–1828. doi: 10.1212/WNL.0000000000004578

PMCID:: PMC5664304

Abstract Article PDF–499K

Select item 568582315.

Leukoencephalopathy‐causing CLCN2 mutations are associated with impaired Cl⁻ channel function and trafficking

Héctor Gaitán‐Peñas, Pirjo M Apaja, Tanit Arnedo, Aida Castellanos, Xabier Elorza‐Vidal, David Soto, Xavier Gasull, Gergely L Lukacs, Raúl Estévez

J Physiol. 2017 Nov 15; 595(22): 6993–7008. Published online 2017 Oct 9. doi: 10.1113/JP275087

PMCID:: PMC5685823

Abstract Article PDF–1.5M

Select item 568590116.

Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome-2?

LEAH SVINGEN, MITCHELL GOHEEN, RENA GODFREY, COLLEEN WAHL, EVA H BAKER, WILLIAM A GAHL, MAY CHRISTINE V MALICDAN, CAMILO TORO

Dev Med Child Neurol. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Dev Med Child Neurol. 2017 Dec; 59(12): 1307–1311. Published online 2017 Aug 1. doi: 10.1111/dmcn.13509

PMCID:: PMC5685901

Abstract Article PDF–644K

Select item 532570417.

Narrowing Critical Regions and Determining Penetrance for Selected 18q- Phenotypes

Jannine D. Cody, Patricia L. Heard, AnaLisa C. Crandall, Erika M. Carter, John Li, L. Jean Hardies, Jack Lancaster, Brian Perry, Robert F. Stratton, Courtney Sebold, Rebecca L. Schaub, Bridgette Soileau, Annice Hill, Minire Hasi, Peter T. Fox, Daniel E. Hale

Am J Med Genet A. Author manuscript; available in PMC 2017 Feb 24.

Published in final edited form as: Am J Med Genet A. 2009 Jul; 149A(7): 1421–1430. doi: 10.1002/ajmg.a.32899

PMCID:: PMC5325704

Abstract Article PDF–1.3M

Select item 572897918.

X-linked Charcot–Marie–Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report

Jin Kyu Kim, Seung-A Han, Sun Jun Kim

Medicine (Baltimore) 2017 Dec; 96(49): e9176. Published online 2017 Dec 8. doi: 10.1097/MD.0000000000009176

PMCID:: PMC5728979

Abstract Article PDF–217K

Select item 574146819.

Diagnostic Criteria for Adult-onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia Due to CSF1R mutation

Takuya Konno, Kunihiro Yoshida, Ikuko Mizuta, Toshiki Mizuno, Toshitaka Kawarai, Masayoshi Tada, Hiroaki Nozaki, Shu-ichi Ikeda, Osamu Onodera, Zbigniew K. Wszolek, Takeshi Ikeuchi

Eur J Neurol. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Eur J Neurol. 2018 Jan; 25(1): 142–147. Published online 2017 Oct 19. doi: 10.1111/ene.13464

PMCID:: PMC5741468

Abstract Article PDF–246K

Select item 579390820.

Stroke and Vascular Dementia and Alzheimer’s Disease - Molecular Links

Murali Vijayan, P. Hemachandra Reddy

J Alzheimers Dis. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: J Alzheimers Dis. 2016 Sep 6; 54(2): 427–443. doi: 10.3233/JAD-160527

PMCID:: PMC5793908

Abstract Article PDF–901K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity