PMC Articles for MedGen (Select 1667792) - PMC

Select item 92178271.

Developmental delay and late onset HBSL pathology in hypomorphic Dars1^M256L mice

Matthias Klugmann, Elizabeth Kalotay, Fabien Delerue, Lars M. Ittner, Andre Bongers, Josephine Yu, Margaret J. Morris, Gary D. Housley, Dominik Fröhlich

Neurochem Res. 2022; 47(7): 1972–1984. Published online 2022 Mar 31. doi: 10.1007/s11064-022-03582-4

Correction in:: Neurochem Res. 2022; 47(7): 1985–1990.

PMCID:: PMC9217827

Abstract Article PDF–4.0M

Select item 78704762.

The Leukodystrophies HBSL and LBSL—Correlates and Distinctions

Annapoorani Muthiah, Gary D. Housley, Matthias Klugmann, Dominik Fröhlich

Front Cell Neurosci. 2020; 14: 626610. Published online 2021 Jan 26. doi: 10.3389/fncel.2020.626610

PMCID:: PMC7870476

Abstract Article PDF–1.1M

Select item 78557233.

A Hypomorphic Dars1^D367Y Model Recapitulates Key Aspects of the Leukodystrophy HBSL

Dominik Fröhlich, Marisa I. Mendes, Andrew J. Kueh, Andre Bongers, Marco J. Herold, Gajja S. Salomons, Gary D. Housley, Matthias Klugmann

Front Cell Neurosci. 2020; 14: 625879. Published online 2021 Jan 20. doi: 10.3389/fncel.2020.625879

PMCID:: PMC7855723

Abstract Article PDF–4.4M

Select item 43359954.

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

Nicole I. Wolf, Camilo Toro, Ilya Kister, Kartikasalwah Abd Latif, Richard Leventer, Amy Pizzino, Cas Simons, Truus E.M. Abbink, Ryan J. Taft, Marjo S. van der Knaap, Adeline Vanderver

Neurology. 2015 Jan 20; 84(3): 226–230. doi: 10.1212/WNL.0000000000001157

PMCID:: PMC4335995

Abstract Article PDF–881K

Select item 36446245.

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J. Taft, Adeline Vanderver, Richard J. Leventer, Stephen A. Damiani, Cas Simons, Sean M. Grimmond, David Miller, Johanna Schmidt, Paul J. Lockhart, Kate Pope, Kelin Ru, Joanna Crawford, Tena Rosser, Irenaeus F.M. de Coo, Monica Juneja, Ishwar C. Verma, Prab Prabhakar, Susan Blaser, Julian Raiman, Petra J.W. Pouwels, Marianna R. Bevova, Truus E.M. Abbink, Marjo S. van der Knaap, Nicole I. Wolf

Am J Hum Genet. 2013 May 2; 92(5): 774–780. doi: 10.1016/j.ajhg.2013.04.006

PMCID:: PMC3644624

Abstract Article PDF–644K

Select item 34024216.

Removing N-Terminal Sequences in Pre-S1 Domain Enhanced Antibody and B-Cell Responses by an HBV Large Surface Antigen DNA Vaccine

Guohong Ge, Shixia Wang, Yaping Han, Chunhua Zhang, Shan Lu, Zuhu Huang

PLoS One. 2012; 7(7): e41573. Published online 2012 Jul 23. doi: 10.1371/journal.pone.0041573

PMCID:: PMC3402421

Abstract Article PDF–1.0M

Select item 114371587.

Temporal dynamics of uncertainty and prediction error in musical improvisation across different periods

Tatsuya Daikoku

Sci Rep. 2024; 14: 22297. Published online 2024 Sep 27. doi: 10.1038/s41598-024-73689-x

PMCID:: PMC11437158

Abstract Article PDF–2.4M

Select item 107313728.

Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation

Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, Richard Chang, Shaya S. Eftekharian, Alexander Stover, Philip H. Schwartz, Alexandra Latini, Jose E. Abdenur

Mol Genet Metab Rep. 2024 Mar; 38: 101025. Published online 2023 Dec 2. doi: 10.1016/j.ymgmr.2023.101025

PMCID:: PMC10731372

Abstract Article PDF–5.2M

Select item 105938409.

Temporal dynamics of statistical learning in children’s song contributes to phase entrainment and production of novel information in multiple cultures

Tatsuya Daikoku

Sci Rep. 2023; 13: 18041. Published online 2023 Oct 23. doi: 10.1038/s41598-023-45493-6

PMCID:: PMC10593840

Abstract Article PDF–1.2M

Select item 1050220210.

Exploring cognitive individuality and the underlying creativity in statistical learning and phase entrainment

Tatsuya Daikoku, Kevin Kamermans, Maiko Minatoya

EXCLI J. 2023; 22: 828–846. Published online 2023 Aug 4. doi: 10.17179/excli2023-6135

PMCID:: PMC10502202

Abstract Article PDF–946K

Select item 987882311.

Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations

Jingyi Zhu, Xiaomin Guo, Ningjing Ran, Jingtao Liang, Fuyou Liu, Junyan Liu, Rongyu Wang, Lianyan Jiang, Dongdong Yang, Meijun Liu

Front Genet. 2022; 13: 1009230. Published online 2023 Jan 12. doi: 10.3389/fgene.2022.1009230

PMCID:: PMC9878823

Abstract Article PDF–609K

Select item 972421112.

Lithium occurrence in drinking water sources of the United States

Naushita Sharma, Paul Westerhoff, Chao Zeng

Chemosphere. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Chemosphere. 2022 Oct; 305: 135458. Published online 2022 Jun 23. doi: 10.1016/j.chemosphere.2022.135458

PMCID:: PMC9724211

Abstract Article PDF–1.1M

Select item 909436313.

Case Report: DARS Mutations Responsible for Hypomyelination With Brain Stem and Spinal Cord Involvement and Leg Spasticity

Meijun Liu, Wen Xiao, Fang Yang, Xueqing Wang, Chao Chen, Shuoguo Jin, Ningjing Ran, Weiyin Chen, Dongdong Yang

Front Genet. 2022; 13: 845967. Published online 2022 Apr 26. doi: 10.3389/fgene.2022.845967

PMCID:: PMC9094363

Abstract Article PDF–1.5M

Select item 586920014.

Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain

Dominik Fröhlich, Alexandra K. Suchowerska, Carola Voss, Ruojie He, Ernst Wolvetang, Georg von Jonquieres, Cas Simons, Thomas Fath, Gary D. Housley, Matthias Klugmann

Front Mol Neurosci. 2018; 11: 81. Published online 2018 Mar 20. doi: 10.3389/fnmol.2018.00081

PMCID:: PMC5869200

Abstract Article PDF–7.8M

Select item 301092915.

Leadership Development for Program Directors

Robert Bing-You, Whitney Wiltshire, Jenny Skolfield

J Grad Med Educ. 2010 Dec; 2(4): 502–504. doi: 10.4300/JGME-D-10-00115.1

PMCID:: PMC3010929

Abstract Article PDF–100K

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