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Items: 1 to 20 of 290

1.

Takotsubo as Initial Manifestation of Non-Myopathic Cardiomyopathy Due to the Titin Variant c.1489G > T.

Keller H, Neuhold U, Weidinger F, Gatterer E, Stöllberger C, Huber K, Finsterer J.

Medicines (Basel). 2018 Jul 30;5(3). pii: E80. doi: 10.3390/medicines5030080.

2.

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

Sagath L, Lehtokari VL, Välipakka S, Udd B, Wallgren-Pettersson C, Pelin K, Kiiski K.

J Neuromuscul Dis. 2018;5(3):307-314. doi: 10.3233/JND-170298.

3.

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

Zenagui R, Lacourt D, Pegeot H, Yauy K, Juntas Morales R, Theze C, Rivier F, Cances C, Sole G, Renard D, Walther-Louvier U, Ferrer-Monasterio X, Espil C, Arné-Bes MC, Cintas P, Uro-Coste E, Martin Negrier ML, Rigau V, Bieth E, Goizet C, Claustres M, Koenig M, Cossée M.

J Mol Diagn. 2018 Jul;20(4):533-549. doi: 10.1016/j.jmoldx.2018.04.001. Epub 2018 May 21.

PMID:
29792937
4.

Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi HB, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Apr 25. doi: 10.1002/ana.25241. [Epub ahead of print]

PMID:
29691892
5.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V.

JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899.

PMID:
29435569
6.

Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.

Tasca G, Udd B.

Neuromuscul Disord. 2018 Mar;28(3):268-276. doi: 10.1016/j.nmd.2017.12.002. Epub 2017 Dec 12. Review.

PMID:
29361395
7.

The association between irisin and muscle metabolism in different thyroid disorders.

Zybek-Kocik A, Sawicka-Gutaj N, Szczepanek-Parulska E, Andrusiewicz M, Waligórska-Stachura J, Białas P, Krauze T, Guzik P, Skrobisz J, Ruchała M.

Clin Endocrinol (Oxf). 2018 Mar;88(3):460-467. doi: 10.1111/cen.13527. Epub 2017 Dec 20.

PMID:
29197093
8.

Are mechanically sensitive regulators involved in the function and (patho)physiology of cerebral palsy-related contractures?

Pingel J, Suhr F.

J Muscle Res Cell Motil. 2017 Aug;38(3-4):317-330. doi: 10.1007/s10974-017-9489-1. Epub 2017 Nov 30.

PMID:
29190010
9.

Diagnostic and clinical significance of the titin fragment in urine of Duchenne muscular dystrophy patients.

Awano H, Matsumoto M, Nagai M, Shirakawa T, Maruyama N, Iijima K, Nabeshima YI, Matsuo M.

Clin Chim Acta. 2018 Jan;476:111-116. doi: 10.1016/j.cca.2017.11.024. Epub 2017 Nov 23.

PMID:
29175173
10.

[Titin-related muscle disorders: an expanding spectrum].

Ferreiro A, Andoni Urtizberea J.

Med Sci (Paris). 2017 Nov;33 Hors série n°1:16-26. doi: 10.1051/medsci/201733s104. Epub 2017 Nov 15. Review. French.

PMID:
29139381
11.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V.

PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017.

12.

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.

Unger A, Beckendorf L, Böhme P, Kley R, von Frieling-Salewsky M, Lochmüller H, Schröder R, Fürst DO, Vorgerd M, Linke WA.

Acta Neuropathol Commun. 2017 Sep 15;5(1):72. doi: 10.1186/s40478-017-0474-0.

13.

Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy.

Wu L, Xiang B, Zhang H, He X, Shih C, Chen X, Cai T.

Neuromuscul Disord. 2017 Nov;27(11):1018-1022. doi: 10.1016/j.nmd.2017.06.558. Epub 2017 Jul 6.

PMID:
28818390
14.

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V.

Neuromuscul Disord. 2017 Nov;27(11):1009-1017. doi: 10.1016/j.nmd.2017.06.013. Epub 2017 Jun 22.

PMID:
28716623
15.

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.

Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, Schoser B, Reilich P, Walter MC.

Neuromuscul Disord. 2017 Sep;27(9):856-860. doi: 10.1016/j.nmd.2017.05.017. Epub 2017 Jun 1. Erratum in: Neuromuscul Disord. 2017 Dec;27(12 ):e1.

PMID:
28666572
16.
17.

Dramatic elevation in urinary amino terminal titin fragment excretion quantified by immunoassay in Duchenne muscular dystrophy patients and in dystrophin deficient rodents.

Robertson AS, Majchrzak MJ, Smith CM, Gagnon RC, Devidze N, Banks GB, Little SC, Nabbie F, Bounous DI, DiPiero J, Jacobsen LK, Bristow LJ, Ahlijanian MK, Stimpson SA.

Neuromuscul Disord. 2017 Jul;27(7):635-645. doi: 10.1016/j.nmd.2017.05.009. Epub 2017 May 12.

18.

Dynamic changes in the mouse skeletal muscle proteome during denervation-induced atrophy.

Lang F, Aravamudhan S, Nolte H, Türk C, Hölper S, Müller S, Günther S, Blaauw B, Braun T, Krüger M.

Dis Model Mech. 2017 Jul 1;10(7):881-896. doi: 10.1242/dmm.028910. Epub 2017 May 25.

19.

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Janin A, N'Guyen K, Habib G, Dauphin C, Chanavat V, Bouvagnet P, Eschalier R, Streichenberger N, Chevalier P, Millat G.

Clin Genet. 2017 Dec;92(6):616-623. doi: 10.1111/cge.13043. Epub 2017 May 18.

PMID:
28436997
20.

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

Perić S, Glumac JN, Töpf A, Savić-Pavićević D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkušanin M, Milenković S, Rašić VM, Banko B, Maksimović R, Lochmüller H, Stojanović VR, Straub V.

Eur J Hum Genet. 2017 May;25(5):572-581. doi: 10.1038/ejhg.2017.16. Epub 2017 Mar 15.

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