PMC Articles for MedGen (Select 422446) - PMC

Gökçen Öz Tunçer, Aslıhan Sanri, Seren Aydin, Özlem M. Hergüner, Nezir Özgün, Mustafa Kömür, Dilara F. İçağasioğlu, Rabia Tütüncü Toker, Sanem Yilmaz, Elif Acar Arslan, Mesut Güngör, Gültekin Kutluk, İlknur Erol, Gülen Gül Mert, Burçin Gönüllü Polat, Ayşe Aksoy

J Neuromuscul Dis. 2023; 10(5): 915–924. Prepublished online 2023 Jun 16. Published online 2023 Sep 8. doi: 10.3233/JND-230046

PMCID:: PMC10578252

Article PDF–202K

Select item 105746465.

Mechanical and Optical Properties of Cr₂O₃ Thin Films Grown by Atomic Layer Deposition Method Using Cr(thd)₃ and Ozone

Mahtab Salari Mehr, Lauri Aarik, Taivo Jõgiaas, Aarne Kasikov, Elyad Damerchi, Hugo Mändar

Nanomaterials (Basel) 2023 Oct; 13(19): 2702. Published online 2023 Oct 4. doi: 10.3390/nano13192702

PMCID:: PMC10574646

Article PDF–1.7M

Select item 103634076.

A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita

Zainab Gilitwala, Shalmali Satpute, Sumant Patil

Cureus. 2023 Jun; 15(6): e40869. Published online 2023 Jun 23. doi: 10.7759/cureus.40869

PMCID:: PMC10363407

Article PDF–322K

Select item 102208197.

A Comparative Study of Smart THD-Based Fault Protection Techniques for Distribution Networks

Wael Al Hanaineh, Jose Matas, Josep M. Guerrero

Sensors (Basel) 2023 May; 23(10): 4874. Published online 2023 May 18. doi: 10.3390/s23104874

PMCID:: PMC10220819

Article PDF–8.2M

Select item 99944758.

iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio

EMBO Mol Med. 2023 Mar; 15(3): e15847. Published online 2023 Feb 6. doi: 10.15252/emmm.202215847

PMCID:: PMC9994475

Article PDF–18M

Select item 98610279.

A THD-Based Fault Protection Method Using MSOGI-FLL Grid Voltage Estimator

Wael Al Hanaineh, Jose Matas, Jorge El Mariachet, Peilin Xie, Mostafa Bakkar, Josep. M. Guerrero

Sensors (Basel) 2023 Jan; 23(2): 980. Published online 2023 Jan 14. doi: 10.3390/s23020980

PMCID:: PMC9861027

Article PDF–6.3M

Select item 984266210.

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family

Nurul Huda Musa, Karuppiah Thilakavathy, Nur Afiqah Mohamad, Marina L. Kennerson, Liyana Najwa Inche Mat, Wei Chao Loh, Anna Misyail Abdul Rashid, Janudin Baharin, Azliza Ibrahim, Wan Aliaa Wan Sulaiman, Fan Kee Hoo, Hamidon Basri, Abdul Hanif Khan Yusof Khan

Front Genet. 2022; 13: 972007. Published online 2023 Jan 3. doi: 10.3389/fgene.2022.972007

PMCID:: PMC9842662

Article PDF–1.2M

Select item 981100111.

Transanal hemorrhoidal dearterialization (THD) for hemorrhoidal disease: An Italian single-institution 5-year experience analysis and updated literature review

Luigi Verre, Gaetano Gallo, Giulia Grassi, Edoardo Bussolin, Ludovico Carbone, Gianmario Edoardo Poto, Osvaldo Carpineto Samorani, Luigi Marano, Daniele Marrelli, Franco Roviello

Front Surg. 2022; 9: 1088546. Published online 2022 Dec 21. doi: 10.3389/fsurg.2022.1088546

PMCID:: PMC9811001

Article PDF–206K

Select item 953782012.

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

Ann Cordenier, Anja Flamez, Thomy de Ravel, Alexander Gheldof, Luigi Pannone, Carlo De Asmundis, Gudrun Pappaert, Véronique Bissay

Front Neurol. 2022; 13: 1011956. Published online 2022 Sep 23. doi: 10.3389/fneur.2022.1011956

PMCID:: PMC9537820

Article PDF–363K

Select item 940383613.

Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita

Concetta Altamura, Elena Conte, Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Giulia Maria Camerino, Paola Imbrici, Jean-François Desaphy

Front Pharmacol. 2022; 13: 958196. Published online 2022 Aug 11. doi: 10.3389/fphar.2022.958196

PMCID:: PMC9403836

Article PDF–1.3M

Select item 930843414.

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment

Christian Woelfel, Kathryn Meurs, Steven Friedenberg, Nicole DeBruyne, Natasha J. Olby

J Vet Intern Med. 2022 Jul; 36(4): 1454–1459. Published online 2022 Jul 11. doi: 10.1111/jvim.16471

PMCID:: PMC9308434

Article PDF–1.7M

Select item 885585615.

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review

Yifan Li, Mao Li, Zhenfu Wang, Fei Yang, Hongfen Wang, Xiujuan Bai, Bo Sun, Siyu Chen, Xusheng Huang

Channels (Austin) 2022; 16(1): 35–46. Published online 2022 Feb 16. doi: 10.1080/19336950.2022.2041292

PMCID:: PMC8855856

Article PDF–1.0M

Select item 868767616.

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

Jorge Andres Olave-Rodriguez, Francisco Javier Bonilla-Escobar, Estephania Candelo, Lisa Ximena Rodriguez-Rojas

Appl Clin Genet. 2021; 14: 473–479. Published online 2021 Dec 16. doi: 10.2147/TACG.S323559

PMCID:: PMC8687676

Article PDF–2.2M

Select item 859122417.

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Xihua Li

Front Pediatr. 2021; 9: 759505. Published online 2021 Nov 1. doi: 10.3389/fped.2021.759505

PMCID:: PMC8591224

Article PDF–1.1M

Select item 849306318.

Transanal Hemorrhoidal Dearterialization (THD) Anolift-Prospective Assessment of Safety and Efficacy

Pasquale Giordano, Elena Schembari

Front Surg. 2021; 8: 704164. Published online 2021 Sep 22. doi: 10.3389/fsurg.2021.704164

PMCID:: PMC8493063

Article PDF–859K

Select item 807707119.

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin

Mol Genet Genomic Med. 2021 Feb; 9(2): e1588. Published online 2021 Jan 28. doi: 10.1002/mgg3.1588

PMCID:: PMC8077071

Article PDF–700K

Select item 757978620.

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov

BMC Med Genet. 2020; 21(Suppl 1): 197. Published online 2020 Oct 22. doi: 10.1186/s12881-020-01128-5

PMCID:: PMC7579786

Article PDF–922K

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