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Items: 1 to 20 of 144

1.

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.

Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB.

Mol Genet Genomic Med. 2017 Nov;5(6):678-691. doi: 10.1002/mgg3.325. Epub 2017 Aug 21.

2.

Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.

Marra JD, Engelstad KE, Ankala A, Tanji K, Dastgir J, De Vivo DC, Coffee B, Chiriboga CA.

Muscle Nerve. 2015 May;51(5):767-72. doi: 10.1002/mus.24528. Epub 2015 Feb 17.

PMID:
25430424
3.

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

Abdulhaq UN, Daana M, Dor T, Fellig Y, Eylon S, Schuelke M, Shaag A, Elpeleg O, Edvardson S.

Muscle Nerve. 2016 Apr;53(4):564-9. doi: 10.1002/mus.24885. Epub 2015 Sep 3.

PMID:
26296490
4.

TNNT1 nemaline myopathy: natural history and therapeutic frontier.

Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA.

Hum Mol Genet. 2018 Sep 15;27(18):3272-3282. doi: 10.1093/hmg/ddy233.

5.

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG.

Am J Hum Genet. 2000 Oct;67(4):814-21. Epub 2000 Aug 21.

6.

Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies.

Amarasinghe C, Hossain MM, Jin JP.

Biochemistry. 2016 Aug 16;55(32):4560-7. doi: 10.1021/acs.biochem.6b00577. Epub 2016 Aug 2.

PMID:
27429059
7.

Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.

Wang X, Huang QQ, Breckenridge MT, Chen A, Crawford TO, Morton DH, Jin JP.

J Biol Chem. 2005 Apr 8;280(14):13241-9. Epub 2005 Jan 23.

8.

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2002 Feb;12(2):151-8.

PMID:
11738357
9.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.

Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6.

10.

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

Seferian AM, Malfatti E, Bosson C, Pelletier L, Taytard J, Forin V, Gidaro T, Gargaun E, Carlier P, Fauré J, Romero NB, Rendu J, Servais L.

Neuromuscul Disord. 2016 Oct;26(10):712-716. doi: 10.1016/j.nmd.2016.07.011. Epub 2016 Jul 29.

PMID:
27528495
11.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN.

Am J Hum Genet. 2001 Jun;68(6):1333-43. Epub 2001 Apr 27.

12.

Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation.

Kiphuth IC, Krause S, Huttner HB, Dekomien G, Struffert T, Schröder R.

J Neurol. 2010 Apr;257(4):658-60. doi: 10.1007/s00415-009-5413-y. Epub 2009 Dec 10.

PMID:
20012312
13.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10.

14.

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H.

Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.

PMID:
29498452
15.

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.

Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, Wallgren-Pettersson C, Laing NG.

Neuromuscul Disord. 1999 Dec;9(8):573-9.

PMID:
10619715
16.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
17.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N.

Am J Hum Genet. 2017 Jan 5;100(1):169-178. doi: 10.1016/j.ajhg.2016.11.017. Epub 2016 Dec 22.

18.

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

Gommans IM, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, van Duijnhoven G, ter Laak HJ, Reis A, Vogels OJ, Laing N, van Engelen BG, Kremer H.

Brain. 2003 Jul;126(Pt 7):1545-51. Epub 2003 Jun 4. Erratum in: Brain. 2003 Sep;126(Pt 9):2115.

PMID:
12805120
19.

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.

Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K.

Am J Med Genet A. 2012 Apr;158A(4):772-8. doi: 10.1002/ajmg.a.35243. Epub 2012 Mar 9.

PMID:
22407809
20.

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C.

Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2.

PMID:
21724397

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