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Items: 1 to 20 of 25

1.
Ca(H2PO4)2 and MgSO4 activated nitrogen-related bacteria and genes in thermophilic stage of compost
Lihong Jiang, Jiapeng Dai, Lutong Wang, Liang Chen, Guangxi Zeng, Erlun Liu, Xiangdan Zhou, Hao Yao, Yunhua Xiao, Jun Fang
Appl Microbiol Biotechnol. 2024; 108(1): 331. Published online 2024 May 11. doi: 10.1007/s00253-024-13167-6
PMCID:
PMC11088556
ArticlePDF–7.3M
2.
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
Katarina Pelin, Lydia Sagath, Johanna Lehtonen, Kirsi Kiiski, Olli Tynninen, Anders Paetau, Mridul Johari, Marco Savarese, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari
J Neuromuscul Dis. 2023; 10(5): 977–984. Prepublished online 2023 Jun 27. Published online 2023 Sep 8. doi: 10.3233/JND-230026
PMCID:
PMC10578209
ArticlePDF–431K
3.
Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome
Dorra Najjar, Asma Chikhaoui, Sinda Zarrouk, Saifeddine Azouz, Wafa Kamoun, Nabil Nassib, Sami Bouchoucha, Houda Yacoub-Youssef
Genes (Basel) 2022 Oct; 13(10): 1748. Published online 2022 Sep 27. doi: 10.3390/genes13101748
PMCID:
PMC9601381
ArticlePDF–2.5M
4.
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof
Int J Mol Sci. 2022 Oct; 23(19): 11995. Published online 2022 Oct 9. doi: 10.3390/ijms231911995
PMCID:
PMC9569467
ArticlePDF–1.7M
5.
A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation
Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, Masako Kawada‐Nagashima, Tatsuya Anzai, Mitsuru Seki, Kazuhisa Watanabe, Kazuhiro Muramatsu, Hitoshi Osaka, Sadahiko Iwamoto, Ichizo Nishino, Takanori Yamagata
Mol Genet Genomic Med. 2022 Sep; 10(9): e2008. Published online 2022 Jun 27. doi: 10.1002/mgg3.2008
PMCID:
PMC9482392
ArticlePDF–5.8M
6.
A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis
Jennifer McAdow, Shuo Yang, Tiffany Ou, Gary Huang, Matthew B. Dobbs, Christina A. Gurnett, Michael J. Greenberg, Aaron N. Johnson
JCI Insight. 2022 Jun 22; 7(12): e152466. Published online 2022 Jun 22. doi: 10.1172/jci.insight.152466
PMCID:
PMC9309062
ArticlePDF–31M
7.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Pascale Marcorelle, Christine Ioos, Norma Beatriz Romero, Eloise Baudou, Julie Brocard, Anne-Cécile Coville, Julien Fauré, Michel Koenig, Raul Juntas Morales, Emmanuelle Lacène, Angéline Madelaine, Isabelle Marty, Henri Pegeot, Corinne Theze, Aurore Siegfried, Mireille Cossee, Claude Cances
J Med Genet. 2021 Sep; 58(9): 602–608. Published online 2020 Sep 29. doi: 10.1136/jmedgenet-2019-106714
PMCID:
PMC8394741
ArticlePDF–991K
8.
A Cross-Sectional Study of Nemaline Myopathy
Kimberly Amburgey, Meryl Acker, Samia Saeed, Reshma Amin, Alan H. Beggs, Carsten G. Bönnemann, Michael Brudno, Andrei Constantinescu, Jahannaz Dastgir, Mamadou Diallo, Casie A. Genetti, Michael Glueck, Stacy Hewson, Courtney Hum, Minal S. Jain, Michael W. Lawlor, Oscar H. Meyer, Leslie Nelson, Nicole Sultanum, Faiza Syed, Tuyen Tran, Ching H. Wang, James J. Dowling
Neurology. 2021 Mar 9; 96(10): e1425–e1436. doi: 10.1212/WNL.0000000000011458
PMCID:
PMC8055318
ArticlePDF–1.0M
9.
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
David Pellerin, Asli Aykanat, Benjamin Ellezam, Emily C. Troiano, Jason Karamchandani, Marie-Josée Dicaire, Marc Petitclerc, Rebecca Robertson, Xavier Allard-Chamard, Denis Brunet, Chamindra G. Konersman, Jean Mathieu, Jodi Warman Chardon, Vandana A. Gupta, Alan H. Beggs, Bernard Brais, Nicolas Chrestian
Ann Neurol. Author manuscript; available in PMC 2021 Apr 1.
Published in final edited form as: Ann Neurol. 2020 Apr; 87(4): 568–583. Published online 2020 Feb 8. doi: 10.1002/ana.25685
PMCID:
PMC7078025
ArticlePDF–2.9M
10.
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing
Minttu Marttila, Wathone Win, Fouad Al-Ghamdi, Hoda Z. Abdel-Hamid, David Lacomis, Alan H. Beggs
Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004184. doi: 10.1101/mcs.a004184
PMCID:
PMC6672024
ArticlePDF–3.4M
11.
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro
Skelet Muscle. 2019; 9: 14. Published online 2019 May 27. doi: 10.1186/s13395-019-0199-9
PMCID:
PMC6535860
ArticlePDF–2.0M
12.
The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies
Yurii S. Borovikov, Olga E. Karpicheva, Armen O. Simonyan, Stanislava V. Avrova, Elena A. Rogozovets, Vladimir V. Sirenko, Charles S. Redwood
Int J Mol Sci. 2018 Dec; 19(12): 3975. Published online 2018 Dec 10. doi: 10.3390/ijms19123975
PMCID:
PMC6321504
ArticlePDF–4.0M
13.
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice
Jennifer A Tinklenberg, Emily M Siebers, Margaret J Beatka, Hui Meng, Lin Yang, Zizhao Zhang, Jacob A Ross, Julien Ochala, Carl Morris, Jane M Owens, Nigel G Laing, Kristen J Nowak, Michael W Lawlor
Hum Mol Genet. 2018 Feb 15; 27(4): 638–648. Published online 2017 Dec 23. doi: 10.1093/hmg/ddx431
PMCID:
PMC5886278
ArticlePDF–857K
14.
Molecular mechanisms of dysfunction of muscle fibres associated with Glu139 deletion in TPM2 gene
Yurii S. Borovikov, Nikita A. Rysev, Olga E. Karpicheva, Vladimir V. Sirenko, Stanislava V. Avrova, Adam Piers, Charles S. Redwood
Sci Rep. 2017; 7: 16797. Published online 2017 Dec 1. doi: 10.1038/s41598-017-17076-9
PMCID:
PMC5711931
ArticlePDF–4.9M
15.
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features
Magdalena Mroczek, Dagmara Kabzińska, Krystyna H. Chrzanowska, Maciej Pronicki, Andrzej Kochański
J Appl Genet. 2017; 58(2): 199–203. Published online 2016 Oct 10. doi: 10.1007/s13353-016-0368-z
PMCID:
PMC5391399
ArticlePDF–664K
16.
KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase
Nyamkhishig Sambuughin, Wieslaw Swietnicki, Stephen Techtmann, Vera Matrosova, Tarina Wallace, Lev Goldfarb, Ernest Maynard
Biochem Biophys Res Commun. Author manuscript; available in PMC 2016 Dec 9.
Published in final edited form as: Biochem Biophys Res Commun. 2012 May 18; 421(4): 743–749. Published online 2012 Apr 20. doi: 10.1016/j.bbrc.2012.04.074
PMCID:
PMC5148137
ArticlePDF–510K
17.
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family
Kristen Zukosky, Katherine Meilleur, Bryan J. Traynor, Jahannaz Dastgir, Livija Medne, Marcella Devoto, James Collins, Jachinta Rooney, Yaqun Zou, Michele L. Yang, J. Raphael Gibbs, Markus Meier, Joerg Stetefeld, Richard S. Finkel, Joachim Schessl, Lauren Elman, Kevin Felice, Toby A. Ferguson, Ozge Ceyhan-Birsoy, Alan H. Beggs, Gihan Tennekoon, Janel O. Johnson, Carsten G. Bönnemann
JAMA Neurol. Author manuscript; available in PMC 2016 Jun 1.
Published in final edited form as: JAMA Neurol. 2015 Jun 1; 72(6): 689–698. doi: 10.1001/jamaneurol.2015.37
Correction in:
JAMA Neurol. 2015 Aug; 72(8): 950.
PMCID:
PMC4461456
ArticlePDF–1.7M
18.
Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration
Sarah U. Morton, Mugdha Joshi, Talia Savic, Alan H. Beggs, Pankaj B. Agrawal
PLoS One. 2015; 10(4): e0123829. Published online 2015 Apr 13. doi: 10.1371/journal.pone.0123829
PMCID:
PMC4395318
ArticlePDF–1.4M
19.
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
Edoardo Malfatti, Vilma-Lotta Lehtokari, Johann Böhm, Josine M De Winter, Ursula Schäffer, Brigitte Estournet, Susana Quijano-Roy, Soledad Monges, Fabiana Lubieniecki, Remi Bellance, Mai Thao Viou, Angéline Madelaine, Bin Wu, Ana Lía Taratuto, Bruno Eymard, Katarina Pelin, Michel Fardeau, Coen AC Ottenheijm, Carina Wallgren-Pettersson, Jocelyn Laporte, Norma B Romero
Acta Neuropathol Commun. 2014; 2: 44. Published online 2014 Apr 12. doi: 10.1186/2051-5960-2-44
PMCID:
PMC4234932
ArticlePDF–2.0M
20.
Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, OÖzge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S. Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hans Lochmüller, Laurent Magy, Véronique Manel, Michèle Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, Willie Stewart, Ana Lia Taratuto, Marianne de Visser, Ekkehard Wilichowski, John Winer, Kristen Nowak, Nigel G. Laing, Tom L. Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm, Carina Wallgren-Pettersson
Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.
Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 779–790. Published online 2014 May 1. doi: 10.1002/humu.22554
PMCID:
PMC4200603
ArticlePDF–2.5M

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