An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation

G Tasca; M Mirabella; A Broccolini; M Monforte; M Sabatelli; GL Biscione; G Piluso; F Gualandi; PA Tonali; B Udd; E Ricci

doi:10.1016/j.nmd.2010.07.269

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation

G Tasca, M Mirabella, A Broccolini, M Monforte, M Sabatelli, GL Biscione, G Piluso, F Gualandi, PA Tonali, B Udd, E Ricci

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

16 Citations (Scopus)

Original language	English
Pages (from-to)	730-734
Journal	NEUROMUSCULAR DISORDERS
Volume	20
Issue number	11
DOIs	https://doi.org/10.1016/j.nmd.2010.07.269
Publication status	Published - 2010
Publication type	A1 Journal article-refereed

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10.1016/j.nmd.2010.07.269

Cite this

Tasca, G., Mirabella, M., Broccolini, A., Monforte, M., Sabatelli, M., Biscione, GL., Piluso, G., Gualandi, F., Tonali, PA., Udd, B., & Ricci, E. (2010). An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation. NEUROMUSCULAR DISORDERS, 20(11), 730-734. https://doi.org/10.1016/j.nmd.2010.07.269

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title = "An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation",

author = "G Tasca and M Mirabella and A Broccolini and M Monforte and M Sabatelli and GL Biscione and G Piluso and F Gualandi and PA Tonali and B Udd and E Ricci",

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Tasca, G, Mirabella, M, Broccolini, A, Monforte, M, Sabatelli, M, Biscione, GL, Piluso, G, Gualandi, F, Tonali, PA, Udd, B & Ricci, E 2010, 'An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation', NEUROMUSCULAR DISORDERS, vol. 20, no. 11, pp. 730-734. https://doi.org/10.1016/j.nmd.2010.07.269

TY - JOUR

T1 - An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation

AU - Tasca, G

AU - Mirabella, M

AU - Broccolini, A

AU - Monforte, M

AU - Sabatelli, M

AU - Biscione, GL

AU - Piluso, G

AU - Gualandi, F

AU - Tonali, PA

AU - Udd, B

AU - Ricci, E

PY - 2010

Y1 - 2010

U2 - 10.1016/j.nmd.2010.07.269

DO - 10.1016/j.nmd.2010.07.269

M3 - Article

SN - 0960-8966

VL - 20

SP - 730

EP - 734

JO - NEUROMUSCULAR DISORDERS

JF - NEUROMUSCULAR DISORDERS

IS - 11

ER -