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Results: 1 to 20 of 104

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.

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]
4.

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]
5.

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Pfeffer G, Sambuughin N, Olivé M, Tyndel F, Toro C, Goldfarb LG, Chinnery PF.

Neuromuscul Disord. 2014 Mar;24(3):241-4. doi: 10.1016/j.nmd.2013.12.001. Epub 2013 Dec 11.

PMID:
24444549
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
7.

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]
8.

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Hedberg C, Melberg A, Dahlbom K, Oldfors A.

Brain. 2014 Apr;137(Pt 4):e270. doi: 10.1093/brain/awt305. Epub 2013 Nov 14. No abstract available.

PMID:
24231549
[PubMed - indexed for MEDLINE]
9.

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Pfeffer G, Griffin H, Pyle A, Horvath R, Chinnery PF.

Brain. 2014 Apr;137(Pt 4):e271. doi: 10.1093/brain/awt306. Epub 2013 Nov 21. No abstract available.

PMID:
24271327
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Pfeffer G, Chinnery PF.

Brain. 2014 Jun;137(Pt 6):e280. doi: 10.1093/brain/awu034. Epub 2014 Feb 27. No abstract available.

PMID:
24578547
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Lange S, Edström L, Udd B, Gautel M.

Brain. 2014 Jun;137(Pt 6):e279. doi: 10.1093/brain/awu033. Epub 2014 Feb 24. No abstract available.

PMID:
24569025
[PubMed - indexed for MEDLINE]
12.

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A.

Brain. 2012 Jun;135(Pt 6):1682-94. doi: 10.1093/brain/aws103. Epub 2012 May 9.

PMID:
22577218
[PubMed - indexed for MEDLINE]
Free Article
13.

[Finnish disease heritage].

Kestilä M, Ikonen E, Lehesjoki AE.

Duodecim. 2010;126(19):2311-20. Review. Finnish.

PMID:
21086689
[PubMed - indexed for MEDLINE]
14.

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
15.

A study of a myopathy presenting as idiopathic scoliosis. Multicore disease or mitochondrial myopathy?

Fitzsimons RB, Tyer HD.

J Neurol Sci. 1980 Apr;46(1):33-48.

PMID:
7373343
[PubMed - indexed for MEDLINE]
16.

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.

Tajsharghi H, Oldfors A, Macleod DP, Swash M.

Neurology. 2007 Mar 20;68(12):962. No abstract available.

PMID:
17372140
[PubMed - indexed for MEDLINE]
17.

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, Foskett P, Harriman DG.

J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8.

PMID:
12700307
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Trusting new age weapons to tackle titin.

Nowak KJ.

Brain. 2012 Jun;135(Pt 6):1665-7. doi: 10.1093/brain/aws123. Epub 2012 May 9. No abstract available.

PMID:
22577220
[PubMed - indexed for MEDLINE]
Free Article
19.

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P.

Muscle Nerve. 2003 Jun;27(6):669-75.

PMID:
12766977
[PubMed - indexed for MEDLINE]
20.

Microvillous inclusion disease in Japan.

Kaneko K, Shimizu T, Fujiwara S, Igarashi J, Ohtomo Y, Yamashiro Y.

J Pediatr. 1999 Sep;135(3):400. No abstract available.

PMID:
10484813
[PubMed - indexed for MEDLINE]

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