Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies-Reference-Cited by-同舟云学术

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Published:2018-10-25 Issue:12 Volume:77 Page:1101-1114
ISSN:0022-3069
Container-title:Journal of Neuropathology & Experimental Neurology
language:en
Short-container-title:

Author:

Ávila-Polo Rainiero¹²³,Malfatti Edoardo¹⁴,Lornage Xavière⁵,Cheraud Chrystel⁵,Nelson Isabelle⁶,Nectoux Juliette⁷,Böhm Johann⁵,Schneider Raphaël⁵⁸,Hedberg-Oldfors Carola⁹,Eymard Bruno⁴,Monges Soledad¹⁰,Lubieniecki Fabiana⁷¹⁰,Brochier Guy¹⁶,Thao Bui Mai¹,Madelaine Angeline¹,Labasse Clémence,Beuvin Maud¹⁶,Lacène Emmanuelle¹⁴,Boland Anne¹¹,Deleuze Jean-François¹¹,Thompson Julie⁸,Richard Isabelle¹²,Taratuto Ana Lía¹⁰,Udd Bjarne¹³¹⁴,Leturcq France,Bonne Gisèle,Oldfors Anders⁹,Laporte Jocelyn⁵,Romero Norma Beatriz¹⁶⁴

Affiliation:

1. Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France

2. FISEVI-UGC Anatomía Patológica-HU Virgen del Rocío, Sevilla, Spain

3. University of Granada, Granada, Spain

4. AP-HP, GHU Pitié-Salpêtrière, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Paris, France

5. Department of Translational Medicine, IGBMC, INSERM U1258, UMR7104, Strasbourg University, Illkirch, France

6. Sorbonne University, INSERM UMRS974, GHU Pitié-Salpêtrière, Paris, France

7. Assistance Publique-Hôpitaux de Paris (AP-HP), GH Cochin-Broca-Hôtel Dieu, Laboratoire de Biochimie et Génétique Moléculaire, Paris, France

8. Complex Systems and Translational Bioinformatics, ICube, Strasbourg University, CNRS UMR7357, Illkirch, France

9. Department of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden

10. Hospital Nacional de Pediatría J.P. Garrahan and Instituto de Investigaciones Neurológicas FLENI, Buenos Aires, Argentina

11. Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Evry, France

12. Genethon Institute, Evry, France

13. Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland

14. Folkhalsan Institute of Genetics, Helsinki University, Helsinki, Finland

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Neurology,General Medicine,Pathology and Forensic Medicine

Link

http://academic.oup.com/jnen/article-pdf/77/12/1101/26567920/nly095.pdf

Reference49 articles.

1. Molecular size and shape of beta-connectin, an elastic protein of striated muscle;Maruyama;J Biochem,1984

2. Giant polypeptides of skeletal muscle titin: Sedimentation equilibrium in guanidine hydrochloride;Kurzban;Biochem Biophys Res Commun,1988

3. A regular pattern of two types of 100-reside motif in the sequence of titin;Labeit;Nature,1990

4. Order of six loci at 2q24-31 and orientation of the HOXD locus;Rossi;Genomics,1994

5. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system;Bang;Circ Res,2001

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