CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

J. Böhm; X. Lornage; F. Chevessier; C. Birck; S. Zanotti; P. Cudia; M. Bulla; F. Granger; M.T. Bui; M. Sartori; C. Schneider-Gold; E. Malfatti; N.B. Romero; M. Mora; J. Laporte

doi:10.1007/s00401-017-1775-x

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

J. Böhm, X. Lornage, F. Chevessier, C. Birck, S. Zanotti, P. Cudia, M. Bulla, F. Granger, M.T. Bui, M. Sartori, C. Schneider-Gold, E. Malfatti, N.B. Romero, M. Mora, J. Laporte

Istituto di Neuroriabilitazione Motoria San Camillo

Research output: Contribution to journal › Article › peer-review

Original language	Italian
Pages (from-to)	149-151
Number of pages	3
Journal	Acta Neuropathologica
Volume	135
Issue number	1
DOIs	https://doi.org/10.1007/s00401-017-1775-x
Publication status	Published - 2018

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10.1007/s00401-017-1775-x

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85031919542&doi=10.1007%2fs00401-017-1775-x&partnerID=40&md5=852183b7f181b3381094771d900a768e

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Böhm, J., Lornage, X., Chevessier, F., Birck, C., Zanotti, S., Cudia, P., Bulla, M., Granger, F., Bui, M. T., Sartori, M., Schneider-Gold, C., Malfatti, E., Romero, N. B., Mora, M., & Laporte, J. (2018). CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. Acta Neuropathologica, 135(1), 149-151. https://doi.org/10.1007/s00401-017-1775-x

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author = "J. B{\"o}hm and X. Lornage and F. Chevessier and C. Birck and S. Zanotti and P. Cudia and M. Bulla and F. Granger and M.T. Bui and M. Sartori and C. Schneider-Gold and E. Malfatti and N.B. Romero and M. Mora and J. Laporte",

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T1 - CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

AU - Böhm, J.

AU - Lornage, X.

AU - Chevessier, F.

AU - Birck, C.

AU - Zanotti, S.

AU - Cudia, P.

AU - Bulla, M.

AU - Granger, F.

AU - Bui, M.T.

AU - Sartori, M.

AU - Schneider-Gold, C.

AU - Malfatti, E.

AU - Romero, N.B.

AU - Mora, M.

AU - Laporte, J.

N1 - Export Date: 6 March 2018

PY - 2018

Y1 - 2018

U2 - 10.1007/s00401-017-1775-x

DO - 10.1007/s00401-017-1775-x

M3 - Articolo

SN - 0001-6322

VL - 135

SP - 149

EP - 151

JO - Acta Neuropathologica

JF - Acta Neuropathologica

IS - 1

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