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Select item 67702891.

Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain, Ainara Vallejo-Illarramendi

Int J Mol Sci. 2019 Sep; 20(18): 4548. Published online 2019 Sep 13. doi: 10.3390/ijms20184548

PMCID:: PMC6770289

Abstract Article PDF–2.6M

Select item 67426462.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 59156243.

AUTOSOMAL DOMINANT CALPAINOPATHY DUE TO HETEROZYGOUS CAPN3 C.643_663DEL21

JENNIFER M. MARTINEZ-THOMPSON, ZHIYV NIU, JENNIFER A. TRACY, STEVEN A. MOORE, ANDREA SWENSON, ERIC D. WIEBEN, MARGHERITA MILONE

Muscle Nerve. Author manuscript; available in PMC 2018 Apr 24.

Published in final edited form as: Muscle Nerve. 2018 Apr; 57(4): 679–683. Published online 2017 Sep 30. doi: 10.1002/mus.25970

PMCID:: PMC5915624

Abstract Article PDF–341K

Select item 69586754.

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Jr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo

Orphanet J Rare Dis. 2020; 15: 11. Published online 2020 Jan 13. doi: 10.1186/s13023-019-1291-2

PMCID:: PMC6958675

Abstract Article PDF–739K

Select item 68594135.

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia

STOJAN PERIC, JELENA STEVANOVIC, KATHERINE JOHNSON, ANA KOSAC, MARINA PERIC, MARIJA BRANKOVIC, ANA MARJANOVIC, MILENA JANKOVIC, BOJAN BANKO, SANJA MILENKOVIC, MILICA DURDIC, IVO BOZOVIC, JELENA NIKODINOVIC GLUMAC, DRAGANA LAVRNIC, RUZICA MAKSIMOVIC, VEDRANA MILIC-RASIC, VIDOSAVA RAKOCEVIC-STOJANOVIC

Acta Myol. 2019 Sep; 38(3): 163–171. Published online 2019 Sep 1.

PMCID:: PMC6859413

Abstract Article PDF–291K

Select item 67565006.

Characterization of the Goose CAPN3 Gene and its Expression Pattern in Muscle Tissues of Sichuan White Geese at Different Growth Stages

Hengyong Xu, Yahui Zhang, Quan Zou, Liang Li, Chunchun Han, Hehe Liu, Jiwei Hu, Tao Zhong, Yan Wang

J Poult Sci. 2018; 55(3): 172–181. Published online 2018 Feb 25. doi: 10.2141/jpsa.0170150

PMCID:: PMC6756500

Abstract Article PDF–2.6M

Select item 60928607.

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang

Orphanet J Rare Dis. 2018; 13: 133. Published online 2018 Aug 14. doi: 10.1186/s13023-018-0859-6

PMCID:: PMC6092860

Abstract Article PDF–3.7M

Select item 54701708.

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing

Clara Gómez-González, Maria Isabel Esteban-Rodríguez, Yolanda Ruano, Elena Vallespín, Pablo Lapunzina, Paloma Martínez, Samuel I. Pascual, Jesús Molano, Carmen Prior

Ann Indian Acad Neurol. 2017 Apr-Jun; 20(2): 164–165. doi: 10.4103/aian.AIAN_432_16

PMCID:: PMC5470170

Article PDF–458K

Select item 50378909.

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Dorota Monies, Hindi N. Alhindi, Mohamed A. Almuhaizea, Mohamed Abouelhoda, Anas M. Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M. Wakil, Nada A. Altassan, Brian F. Meyer, Saeed Bohlega

Hum Genomics. 2016; 10: 32. Published online 2016 Sep 27. doi: 10.1186/s40246-016-0089-8

PMCID:: PMC5037890

Abstract Article PDF–349K

Select item 469695010.

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

Hyung Jun Park, Hoon Jang, Jung Hwan Lee, Ha Young Shin, Sung-Rae Cho, Kee Duk Park, Duhee Bang, Min Goo Lee, Seung Min Kim, Ji Hyun Lee, Young-Chul Choi

Yonsei Med J. 2016 Jan 1; 57(1): 173–179. Published online 2015 Nov 30. doi: 10.3349/ymj.2016.57.1.173

PMCID:: PMC4696950

Abstract Article PDF–2.2M

Select item 411747211.

Redox State and Mitochondrial Respiratory Chain Function in Skeletal Muscle of LGMD2A Patients

Mats I. Nilsson, Lauren G. Macneil, Yu Kitaoka, Fatimah Alqarni, Rahul Suri, Mahmood Akhtar, Maria E. Haikalis, Pavneet Dhaliwal, Munim Saeed, Mark A. Tarnopolsky

PLoS One. 2014; 9(7): e102549. Published online 2014 Jul 31. doi: 10.1371/journal.pone.0102549

PMCID:: PMC4117472

Abstract Article PDF–1.0M

Select item 327666812.

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

Christel Depienne, Delphine Bouteiller, Aurélie Méneret, Ségolène Billot, Sergiu Groppa, Stephan Klebe, Fanny Charbonnier-Beaupel, Jean-Christophe Corvol, Jean-Paul Saraiva, Norbert Brueggemann, Kailash Bhatia, Massimo Cincotta, Vanessa Brochard, Constance Flamand-Roze, Wassila Carpentier, Sabine Meunier, Yannick Marie, Marion Gaussen, Giovanni Stevanin, Rosine Wehrle, Marie Vidailhet, Christine Klein, Isabelle Dusart, Alexis Brice, Emmanuel Roze

Am J Hum Genet. 2012 Feb 10; 90(2): 301–307. doi: 10.1016/j.ajhg.2011.12.002

PMCID:: PMC3276668

Abstract Article PDF–1.0M

Select item 322683913.

Global Comparative Gene Expression Analysis of Melanoma Patient Samples, Derived Cell Lines and Corresponding Tumor Xenografts

YAGUANG XI, ADAM RIKER, LALITA SHEVDE-SAMANT, RAJEEV SAMANT, CHRISTOPHER MORRIS, ELAINE GAVIN, OYSTEIN FODSTAD, JINGFANG JU

Cancer Genomics Proteomics. Author manuscript; available in PMC 2011 Nov 30.

Published in final edited form as: Cancer Genomics Proteomics. 2008 Jan-Feb; 5(1): 1–35.

PMCID:: PMC3226839

Abstract Article PDF–2.0M

Select item 308582114.

SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

Lea Papić, Dirk Fischer, Slave Trajanoski, Romana Höftberger, Carina Fischer, Thomas Ströbel, Wolfgang M. Schmidt, Reginald E. Bittner, Maria Schabhüttl, Karin Gruber, Thomas R. Pieber, Andreas R. Janecke, Michaela Auer-Grumbach

Eur J Med Genet. 2011 May; 54(3): 214–219. doi: 10.1016/j.ejmg.2010.12.003

PMCID:: PMC3085821

Abstract Article

Select item 296686515.

Transcriptional and Translational Effects of Intronic CAPN3 Gene Mutations

Anna Chiara Nascimbeni, Marina Fanin, Elisabetta Tasca, Corrado Angelini

Hum Mutat. 2010 Jul 15; 31(9): e1658–e1669. doi: 10.1002/humu.21320

PMCID:: PMC2966865

Abstract Article PDF–334K

Select item 295458416.

Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies

G Piluso, S Aurino, M Cacciottolo, F Del Vecchio Blanco, A Lancioni, IL Rotundo, A Torella, V Nigro

Acta Myol. 2010 Jul; 29(1): 1–20.

PMCID:: PMC2954584

Abstract Article PDF–699K

Select item 262849417.

Expression of Atrophy mRNA Relates to Tendon Tear Size in Supraspinatus Muscle

Silvia Schmutz, Thomas Fuchs, Felix Regenfelder, Patrick Steinmann, M. Zumstein, Bruno Fuchs

Clin Orthop Relat Res. 2009 Feb; 467(2): 457–464. Published online 2008 Oct 22. doi: 10.1007/s11999-008-0565-0

PMCID:: PMC2628494

Abstract Article PDF–312K

Select item 261482418.

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

Jacques S Beckmann, Melissa Spencer

Neuromuscul Disord. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2008 Dec; 18(12): 913–921. Published online 2008 Oct 29. doi: 10.1016/j.nmd.2008.08.005

PMCID:: PMC2614824

Abstract Article PDF–798K

Select item 257111219.

Genomics and proteomics of immune modulatory effects of a butanol fraction of echinacea purpurea in human dendritic cells

Chien-Yu Wang, Vanisree Staniforth, Ming-Tsang Chiao, Chia-Chung Hou, Han-Ming Wu, Kuo-Chen Yeh, Chun-Houh Chen, Pei-Ing Hwang, Tuan-Nan Wen, Lie-Fen Shyur, Ning-Sun Yang

BMC Genomics. 2008; 9: 479. Published online 2008 Oct 13. doi: 10.1186/1471-2164-9-479

PMCID:: PMC2571112

Abstract Article PDF–1.3M

Select item 229046720.

Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle

L Féasson, D Stockholm, D Freyssenet, I Richard, S Duguez, J S Beckmann, C Denis

J Physiol. 2002 Aug 15; 543(Pt 1): 297–306. doi: 10.1113/jphysiol.2002.018689

PMCID:: PMC2290467

Abstract Article PDF–970K

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