PMC Articles for MedGen (Select 338823) - PMC

Giovanni Defazio, Angelo Fabio Gigante, Roberto Erro, Daniele Belvisi, Marcello Esposito, Assunta Trinchillo, Gabriella De Joanna, Roberto Ceravolo, Sonia Mazzucchi, Elisa Unti, Paolo Barone, Sara Scannapieco, Maria Sofia Cotelli, Marinella Turla, Marta Bianchi, Laura Bertolasi, Antonio Pisani, Francesca Valentino, Maria Concetta Altavista, Vincenzo Moschella, Paolo Girlanda, Carmen Terranova, Francesco Bono, Giorgio Spano, Giovanni Fabbrini, Gina Ferrazzano, Alberto Albanese, Anna Castagna, Daniela Cassano, Mario Coletti Moja, Roberta Pellicciari, Anna Rita Bentivoglio, Roberto Eleopra, Giovanni Cossu, Tommaso Ercoli, Marcello Mario Mascia, Francesca Di Biasio, Salvatore Misceo, Luca Magistrelli, Marcello Romano, Cesa Lorella Maria Scaglione, Michele Tinazzi, Luca Maderna, Maurizio Zibetti, Alfredo Berardelli

Mov Disord Clin Pract. 2023 Jul; 10(7): 1107–1113. Published online 2023 Jun 7. doi: 10.1002/mdc3.13801

PMCID:: PMC10354612

Abstract Article PDF–719K

Select item 102755284.

Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review

Funmilola T. Taiwo, Philip B. Adebayo

Brain Behav. 2023 Jun; 13(6): e3023. Published online 2023 May 11. doi: 10.1002/brb3.3023

PMCID:: PMC10275528

Abstract Article PDF–702K

Select item 102510365.

Anesthesia management of deep brain stimulation insertion in a patient with generalized idiopathic dystonia: a case report

Junghee Choi, Jinsol Lee, Youngduck Shin, Soontaek Jeong, Jeongeun Moon, Sanghi Park

Am J Transl Res. 2023; 15(5): 3657–3661. Published online 2023 May 15.

PMCID:: PMC10251036

Abstract Article PDF–305K

Select item 98263176.

Longitudinal analysis of the relationship between motor and psychiatric symptoms in idiopathic dystonia

Grace A. Bailey, Anna Rawlings, Fatemeh Torabi, William Owen Pickrell, Kathryn J. Peall

Eur J Neurol. 2022 Dec; 29(12): 3513–3527. Published online 2022 Sep 11. doi: 10.1111/ene.15530

PMCID:: PMC9826317

Abstract Article PDF–7.7M

Select item 96292107.

Electrophysiological characterization of the striatal cholinergic interneurons in Dyt1 ΔGAG knock-in mice

Hong Xing, Fumiaki Yokoi, Ariel Luz Walker, Rosemarie Torres-Medina, Yuning Liu, Yuqing Li

Dystonia. Author manuscript; available in PMC 2022 Nov 2.

Published in final edited form as: Dystonia. 2022 Jul; 1: 10557. Published online 2022 Jul 21. doi: 10.3389/dyst.2022.10557

PMCID:: PMC9629210

Abstract Article PDF–831K

Select item 95471478.

Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children

Divyani Garg, Sangeetha Yoganathan, Uzma Shamim, Kshitij Mankad, Parveen Gulati, Vincenzo Bonifati, Abhijeet Botre, Umesh Kalane, Arushi Gahlot Saini, Naveen Sankhyan, Kavita Srivastava, Vykuntaraju K. Gowda, Monica Juneja, Mahesh Kamate, Hansashree Padmanabha, Debasis Panigrahi, Shaila Pachapure, Vrajesh Udani, Atin Kumar, Sanjay Pandey, Maya Thomas, Sumita Danda, Shaikh Atif Iqbalahmed, Annadurai Subramanian, Harish Pemde, Varinder Singh, Mohammed Faruq, Suvasini Sharma

Mov Disord Clin Pract. 2022 Oct; 9(7): 886–899. Published online 2022 Aug 12. doi: 10.1002/mdc3.13516

PMCID:: PMC9547147

Abstract Article PDF–656K

Select item 95345669.

Two Cases of Monozygotic Twins with Early-onset Isolated (DYT1) Dystonia Effectively Treated with Bilateral Globus Pallidus Internus Stimulation

Yosuke OKAZAKI, Tatsuya SASAKI, Kouji KAWAI, Kakeru HOSOMOTO, Susumu SASADA, Takao YASUHARA, Tomoyuki AKIYAMA, Yoshiyuki HANAOKA, Isao DATE

NMC Case Rep J. 2022; 9: 307–312. Published online 2022 Sep 15. doi: 10.2176/jns-nmc.2022-0084

PMCID:: PMC9534566

Abstract Article PDF–653K

Select item 937701210.

Adult‐onset idiopathic dystonia: A national data‐linkage study to determine epidemiological, social deprivation, and mortality characteristics

Grace A. Bailey, Anna Rawlings, Fatemeh Torabi, Owen Pickrell, Kathryn J. Peall

Eur J Neurol. 2022 Jan; 29(1): 91–104. Published online 2021 Oct 15. doi: 10.1111/ene.15114

PMCID:: PMC9377012

Abstract Article PDF–1.0M

Select item 936676611.

Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene

Masuma Akter, Haochen Cui, Yi-Hsien Chen, Baojin Ding

Stem Cell Res. Author manuscript; available in PMC 2022 Aug 11.

Published in final edited form as: Stem Cell Res. 2022 Jul; 62: 102807. Published online 2022 May 5. doi: 10.1016/j.scr.2022.102807

PMCID:: PMC9366766

Abstract Article PDF–1.3M

Select item 929183512.

Vesicular Acetylcholine Transporter Alters Cholinergic Tone and Synaptic Plasticity in DYT1 Dystonia

Annalisa Tassone, Giuseppina Martella, Maria Meringolo, Valentina Vanni, Giuseppe Sciamanna, Giulia Ponterio, Paola Imbriani, Paola Bonsi, Antonio Pisani

Mov Disord. 2021 Dec; 36(12): 2768–2779. Published online 2021 Jun 26. doi: 10.1002/mds.28698

PMCID:: PMC9291835

Abstract Article PDF–1.8M

Select item 908783413.

Imaging Insights of Isolated Idiopathic Dystonia: Voxel-Based Morphometry and Activation Likelihood Estimation Studies

Yunhao Wu, Chao Zhang, Yufei Li, Jie Feng, Ming Zhang, Hongxia Li, Tao Wang, Yingying Zhang, Zhijia Jin, Chencheng Zhang, Yuyao Zhang, Dianyou Li, Yiwen Wu, Hongjiang Wei, Bomin Sun

Front Neurol. 2022; 13: 823882. Published online 2022 Apr 26. doi: 10.3389/fneur.2022.823882

PMCID:: PMC9087834

Abstract Article PDF–828K

Select item 882717514.

The HIV protease inhibitor, ritonavir, corrects diverse brain phenotypes across development in mouse model of DYT-TOR1A dystonia

Zachary F. Caffall, Bradley J. Wilkes, Ricardo Hernández-Martinez, Joseph E. Rittiner, Jennifer T. Fox, Kanny K. Wan, Miranda K. Shipman, Steven A. Titus, Ya-Qin Zhang, Samarjit Patnaik, Matthew D. Hall, Matthew B. Boxer, Min Shen, Zhuyin Li, David E. Vaillancourt, Nicole Calakos

Sci Transl Med. Author manuscript; available in PMC 2022 Feb 9.

Published in final edited form as: Sci Transl Med. 2021 Aug 18; 13(607): eabd3904. doi: 10.1126/scitranslmed.abd3904

PMCID:: PMC8827175

Abstract Article PDF–1.8M

Select item 864023315.

Dataset on the mass spectrometry-based proteomic profiling of mouse embryonic fibroblasts from a wild type and DYT-TOR1A mouse model of dystonia, basally and during stress

Kunal Shroff, Zachary F. Caffall, Erik J. Soderblom, Greg Waitt, Tricia Ho, Nicole Calakos

Data Brief. 2021 Dec; 39: 107609. Published online 2021 Nov 20. doi: 10.1016/j.dib.2021.107609

PMCID:: PMC8640233

Abstract Article PDF–490K

Select item 852292416.

The Mutation Responsible for Torsion Dystonia Type 1 Shows the Ability To Stimulate Intracellular Aggregation of Mutant Huntingtin

Marta Jurek, Ewa Obersztyn, Michał Milewski

Dev Period Med. 2018 Mar; 22(1): 33–38. Published online 2018 Apr 12. doi: 10.34763/devperiodmed.20182201.3338

PMCID:: PMC8522924

Abstract Article PDF–454K

Select item 832432517.

Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits

B.J. Wilkes, J.C. DeSimone, Y. Liu, W.T. Chu, S.A. Coombes, Y. Li, D. E. Vaillancourt

Exp Neurol. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Exp Neurol. 2021 Sep; 343: 113783. Published online 2021 Jun 10. doi: 10.1016/j.expneurol.2021.113783

PMCID:: PMC8324325

Abstract Article PDF–1.3M

Select item 828367218.

Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family

Feng Zhu, Fengxiao Zhang, Lizhi Hu, Haowen Liu, Yahua Li

Front Genet. 2021; 12: 672906. Published online 2021 Jul 2. doi: 10.3389/fgene.2021.672906

PMCID:: PMC8283672

Abstract Article PDF–3.0M

Select item 821521319.

Reversal of motor-skill transfer impairment by trihexyphenidyl and reduction of dorsolateral striatal cholinergic interneurons in Dyt1 ΔGAG knock-in mice

Fumiaki Yokoi, Mai Tu Dang, Lin Zhang, Kelly M. Dexter, Iakov Efimenko, Shiv Krishnaswamy, Matthew Villanueva, Carly I. Misztal, Malinda Gerard, Patrick Lynch, Yuqing Li

IBRO Neurosci Rep. 2021 Dec; 11: 1–7. Published online 2021 Jun 12. doi: 10.1016/j.ibneur.2021.05.003

PMCID:: PMC8215213

Abstract Article PDF–954K

Select item 811308320.

Alteration of the cholinergic system and motor deficits in cholinergic neuron-specific Dyt1 knockout mice

Yuning Liu, Hong Xing, Wanhui Sheng, Kyle N Singh, Alexandra G. Korkmaz, Caroline Comeau, Maisha Anika, Alexis Ernst, Fumiaki Yokoi, David E. Vaillancourt, Charles J. Frazier, Yuqing Li

Neurobiol Dis. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Neurobiol Dis. 2021 Jul; 154: 105342. Published online 2021 Mar 20. doi: 10.1016/j.nbd.2021.105342

PMCID:: PMC8113083

Abstract Article PDF–1.8M

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