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Items: 1 to 20 of 137

1.
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis
C. Bursle, A. Narendra, R. Chuk, J. Cardinal, R. Justo, B. Lewis, D. Coman
JIMD Rep. 2017; 34: 105–109. Published online 2016 Nov 5. doi: 10.1007/8904_2016_13
PMCID:
PMC5509545
ArticlePDF–126K
2.
Cystic echinococcosis in sheep and goats of Lebanon
Gaelle Joanny, Naunain Mehmood, Giorgia Dessì, Claudia Tamponi, Francesca Nonnis, Chadi Hosri, Urmas Saarma, Antonio Varcasia, Antonio Scala
Parasitology. 2021 Jun; 148(7): 871–878. Published online 2021 Mar 24. doi: 10.1017/S0031182021000494
PMCID:
PMC11010058
ArticlePDF–256K
3.
新生儿筛查发现的氨甲酰磷酸合成酶1缺乏症患儿长期随访研究
张 詹明, 童 凡, 陈 迟, 张 婷, 钱 古柃, 杨 昕, 黄 新文, 杨 茹莱, 赵 正言
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 25; 52(6): 721–726. Chinese. Published online 2023 Nov 14. doi: 10.3724/zdxbyxb-2023-0359
PMCID:
PMC10764181
ArticlePDF–643K
4.
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A
Federica Rizzo, Silvia Bono, Marc David Ruepp, Sabrina Salani, Linda Ottoboni, Elena Abati, Valentina Melzi, Chiara Cordiglieri, Serena Pagliarani, Roberta De Gioia, Alessia Anastasia, Michela Taiana, Manuela Garbellini, Simona Lodato, Paolo Kunderfranco, Daniele Cazzato, Daniele Cartelli, Caterina Lonati, Nereo Bresolin, Giacomo Comi, Monica Nizzardo, Stefania Corti
Cell Mol Life Sci. 2023; 80(12): 373. Published online 2023 Nov 25. doi: 10.1007/s00018-023-05018-w
PMCID:
PMC10676309
ArticlePDF–3.9M
5.
A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing
Kristin Richardson, Robert Wessells
PLoS One. 2023; 18(9): e0286380. Published online 2023 Sep 27. doi: 10.1371/journal.pone.0286380
PMCID:
PMC10529581
ArticlePDF–1.2M
6.
Diversity and geographic distribution of haplotypes of Dirofilaria immitis across European endemic countries
Mustafa Alsarraf, Elena Carretón, Lavinia Ciuca, Anastasia Diakou, Dorota Dwużnik-Szarek, Hans-Peter Fuehrer, Marco Genchi, Angela Monica Ionică, Agnieszka Kloch, Laura Helen Kramer, Andrei D. Mihalca, Martina Miterpáková, Rodrigo Morchón, Elias Papadopoulos, Mateusz Pękacz, Laura Rinaldi, Mohammed Alsarraf, Mariia Topolnytska, Alice Vismarra, Anna Zawistowska-Deniziak, Anna Bajer
Parasit Vectors. 2023; 16: 325. Published online 2023 Sep 12. doi: 10.1186/s13071-023-05945-4
PMCID:
PMC10498598
ArticlePDF–1.2M
7.
MiR-494 induces metabolic changes through G6pc targeting and modulates sorafenib response in hepatocellular carcinoma
Christian Bergamini, Ilaria Leoni, Nicola Rizzardi, Mattia Melli, Giuseppe Galvani, Camelia Alexandra Coada, Catia Giovannini, Elisa Monti, Irene Liparulo, Francesca Valenti, Manuela Ferracin, Matteo Ravaioli, Matteo Cescon, Francesco Vasuri, Fabio Piscaglia, Massimo Negrini, Claudio Stefanelli, Romana Fato, Laura Gramantieri, Francesca Fornari
J Exp Clin Cancer Res. 2023; 42: 145. Published online 2023 Jun 10. doi: 10.1186/s13046-023-02718-w
PMCID:
PMC10257313
ArticlePDF–7.5M
8.
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review
Qin Zhang, Qianqian Ouyang, Jingjing Xiang, Hong Li, Haitao Lv, Yu An
Genes (Basel) 2023 Mar; 14(3): 552. Published online 2023 Feb 22. doi: 10.3390/genes14030552
PMCID:
PMC10048406
ArticlePDF–2.1M
9.
Towards Marker-Assisted Breeding for Black Rot Bunch Resistance: Identification of a Major QTL in the Grapevine Cultivar ‘Merzling’
Paola Bettinelli, Daniela Nicolini, Laura Costantini, Marco Stefanini, Ludger Hausmann, Silvia Vezzulli
Int J Mol Sci. 2023 Feb; 24(4): 3568. Published online 2023 Feb 10. doi: 10.3390/ijms24043568
PMCID:
PMC9961920
ArticlePDF–4.6M
10.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew J. Wallis, Ernest G. Butler, Kishore R. Kumar, Kathy HC. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A. Eberle, Leslie J. Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
Am J Hum Genet. 2023 Jan 5; 110(1): 105–119. Published online 2022 Dec 8. doi: 10.1016/j.ajhg.2022.11.015
Correction in:
Am J Hum Genet. 2023 Jun 1; 110(6): 1018.
PMCID:
PMC9892775
ArticlePDF–1.8M
11.
A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia
Balasundaram Kadirvelu, Constantinos Gavriel, Sathiji Nageshwaran, Jackson Ping Kei Chan, Suran Nethisinghe, Stavros Athanasopoulos, Valeria Ricotti, Thomas Voit, Paola Giunti, Richard Festenstein, A. Aldo Faisal
Nat Med. 2023; 29(1): 86–94. Published online 2023 Jan 19. doi: 10.1038/s41591-022-02159-6
PMCID:
PMC9873563
ArticlePDF–5.1M
12.
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati
Cell Death Dis. 2022 Nov; 13(11): 981. Published online 2022 Nov 21. doi: 10.1038/s41419-022-05410-7
PMCID:
PMC9678881
ArticlePDF–8.2M
13.
Morphological and molecular characteristics of Sarcocystis bertrami from horses and donkeys in China
Weilin Zeng, Ling Sun, Zheng Xiang, Na Li, Jie Zhang, Yongshu He, Qing Li, Fang Yang, Jingling Song, James Morris, Benjamin M. Rosenthal, Le Sun, Huaie Liu, Zhaoqing Yang
Vet Parasitol. Author manuscript; available in PMC 2022 Nov 11.
Published in final edited form as: Vet Parasitol. 2018 Mar 15; 252: 89–94. Published online 2018 Feb 2. doi: 10.1016/j.vetpar.2018.01.024
PMCID:
PMC9650612
ArticlePDF–1.3M
14.
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
Marco Percetti, Giulia Franco, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Ilaria Palmieri, Donatella Ottaviani, Maria Vizziello, Dario Ronchi, Federica Di Berardino, Antoniangela Cocco, Bertil Macao, Maria Falkenberg, Giacomo Pietro Comi, Alberto Albanese, Bruno Giometto, Enza Maria Valente, Valerio Carelli, Alessio Di Fonzo
Mov Disord. 2022 Sep; 37(9): 1938–1943. Published online 2022 Jul 6. doi: 10.1002/mds.29139
PMCID:
PMC9544864
ArticlePDF–379K
15.
Identification of MMP9 as a Novel Biomarker to Mitochondrial Metabolism Disorder and Oxidative Stress in Calcific Aortic Valve Stenosis
Cong Liu, Ruixue Liu, Zhezhe Cao, Qiao Guo, He Huang, Liangming Liu, Yingbin Xiao, Chenyang Duan, Ruiyan Ma
Oxid Med Cell Longev. 2022; 2022: 3858871. Published online 2022 Sep 24. doi: 10.1155/2022/3858871
Retraction in:
Oxid Med Cell Longev. 2023; 2023: 9831674.
PMCID:
PMC9527114
Article
16.
Diagnostic yield of genetic testing in 324 infants with hypotonia
Sonal Sharma, Elena Repnikova, Janelle R. Noel‐MacDonnell, Jean‐Baptiste LePichon
Clin Genet. 2021 Dec; 100(6): 752–757. Published online 2021 Sep 16. doi: 10.1111/cge.14057
PMCID:
PMC9291145
ArticlePDF–1.2M
17.
Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder
John P Bourke, Yi Shiau Ng, Margaret Tynan, Matthew G D Bates, Saidi Mohiddin, Doug Turnbull, Grainne S Gorman
Open Heart. 2022; 9(1): e001819. Published online 2022 Apr 6. doi: 10.1136/openhrt-2021-001819
PMCID:
PMC8991061
ArticlePDF–1.1M
18.
Complementary Transcriptomic and Proteomic Analysis in the Substantia Nigra of Parkinson's Disease
Bao-hua Dong, Zhao-qing Niu, Jing-tao Zhang, Yi-jing Zhou, Fan-mei Meng, Ai-qin Dong
Dis Markers. 2021; 2021: 2148820. Published online 2021 Oct 7. doi: 10.1155/2021/2148820
PMCID:
PMC8517625
ArticlePDF–1.6M
19.
Mitochondrial DNA Copy Number Variations and Serum Pepsinogen Levels for Risk Assessment in Gastric Cancer
Mehdi Alikhani, Samaneh Saberi, Maryam Esmaeili, Valérie Michel, Mohammad Tashakoripour, Afshin Abdirad, Arezoo Aghakhani, Sana Eybpoosh, Massoud Vosough, Mohammad Ali Mohagheghi, Mahmoud Eshagh Hosseini, Eliette Touati, Marjan Mohammadi
Iran Biomed J. 2021 Sep; 25(5): 323–333. Published online 2021 Aug 22. doi: 10.52547/ibj.25.5.323
PMCID:
PMC8487685
ArticlePDF–838K
20.
Combined Transcriptome and Proteome Leukocyte’s Profiling Reveals Up-Regulated Module of Genes/Proteins Related to Low Density Neutrophils and Impaired Transcription and Translation Processes in Clinical Sepsis
Giuseppe Gianini Figueirêdo Leite, Bianca Lima Ferreira, Alexandre Keiji Tashima, Erika Sayuri Nishiduka, Edecio Cunha-Neto, Milena Karina Colo Brunialti, Murillo Assuncao, Luciano Cesar Pontes Azevedo, Flávio Freitas, Tom van der Poll, Brendon P. Scicluna, Reinaldo Salomão
Front Immunol. 2021; 12: 744799. Published online 2021 Sep 10. doi: 10.3389/fimmu.2021.744799
PMCID:
PMC8477441
ArticlePDF–6.4M

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