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Items: 1 to 20 of 25

1.

Titinopathy in a Canadian family sharing the British founder haplotype.

Pfeffer G, Joseph JT, Innes AM, Frizzell JB, Wilson IJ, Brownell AK, Chinnery PF.

Can J Neurol Sci. 2014 Jan;41(1):90-4. No abstract available.

PMID:
24384345
2.

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.

3.

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
4.

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
5.

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.

6.

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
7.

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
8.

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
9.

Titin mutation segregates with hereditary myopathy with early respiratory failure.

Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF.

Brain. 2012 Jun;135(Pt 6):1695-713. doi: 10.1093/brain/aws102. Epub 2012 May 9.

10.

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
11.

Neuromuscular imaging in inherited muscle diseases.

Wattjes MP, Kley RA, Fischer D.

Eur Radiol. 2010 Oct;20(10):2447-60. doi: 10.1007/s00330-010-1799-2. Epub 2010 Apr 27. Review.

12.

ALS with respiratory onset: clinical features and effects of non-invasive ventilation on the prognosis.

Gautier G, Verschueren A, Monnier A, Attarian S, Salort-Campana E, Pouget J.

Amyotroph Lateral Scler. 2010 Aug;11(4):379-82. doi: 10.3109/17482960903426543.

PMID:
20001486
13.

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.

Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V.

Brain. 2009 Nov;132(Pt 11):3175-86. doi: 10.1093/brain/awp236. Epub 2009 Sep 18.

14.

Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG.

Ann Neurol. 2009 Jan;65(1):83-9. doi: 10.1002/ana.21553.

15.

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1485-96. Epub 2007 Apr 17.

PMID:
17439987
16.

The kinase domain of titin controls muscle gene expression and protein turnover.

Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, Kristensen J, Brandmeier B, Franzen G, Hedberg B, Gunnarsson LG, Hughes SM, Marchand S, Sejersen T, Richard I, Edström L, Ehler E, Udd B, Gautel M.

Science. 2005 Jun 10;308(5728):1599-603. Epub 2005 Mar 31.

17.

Respiratory failure as a first presentation of myasthenia gravis.

Qureshi AI, Choundry MA, Mohammad Y, Chua HC, Yahia AM, Ulatowski JA, Krendel DA, Leshner RT.

Med Sci Monit. 2004 Dec;10(12):CR684-9.

PMID:
15567987
18.

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K.

Ann Neurol. 2004 Nov;56(5):738-41.

PMID:
15505776
19.

Severe respiratory muscle weakness related to long-term colchicine therapy.

Tanios MA, El Gamal H, Epstein SK, Hassoun PM.

Respir Care. 2004 Feb;49(2):189-91.

20.

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

Selcen D, Engel AG.

Ann Neurol. 2003 Dec;54(6):804-10.

PMID:
14681890

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