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Results: 8

1.

Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare.

Uruha A, Nishino I.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):248. doi: 10.1136/jnnp-2013-305394. Epub 2013 May 21. No abstract available.

PMID:
23695499
[PubMed - indexed for MEDLINE]
2.

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19.

PMID:
23606733
[PubMed - indexed for MEDLINE]
3.

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

Toro C, Olivé M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG.

BMC Neurol. 2013 Mar 20;13:29. doi: 10.1186/1471-2377-13-29.

PMID:
23514108
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13.

PMID:
23486992
[PubMed - indexed for MEDLINE]
5.

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y.

J Hum Genet. 2013 May;58(5):259-66. doi: 10.1038/jhg.2013.9. Epub 2013 Feb 28.

PMID:
23446887
[PubMed - indexed for MEDLINE]
6.

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

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

Neuromuscul Disord. 2010 Nov;20(11):730-4. doi: 10.1016/j.nmd.2010.07.269. Epub 2010 Aug 13.

PMID:
20708934
[PubMed - indexed for MEDLINE]
7.

A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21.

Xiang F, Nicolao P, Chapon F, Edström L, Anvret M, Zhang Z.

Neuromuscul Disord. 1999 Jul;9(5):308-12.

PMID:
10407851
[PubMed - indexed for MEDLINE]
8.

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.

Nicolao P, Xiang F, Gunnarsson LG, Giometto B, Edström L, Anvret M, Zhang Z.

Am J Hum Genet. 1999 Mar;64(3):788-92.

PMID:
10053013
[PubMed - indexed for MEDLINE]
Free PMC Article

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