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Items: 18

1.

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.

Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi S.

Neuromuscul Disord. 2015 Jul;25(7):567-76. doi: 10.1016/j.nmd.2015.04.007. Epub 2015 Apr 27.

PMID:
25958340
2.

Severe congenital actin related myopathy with myofibrillar myopathy features.

Selcen D.

Neuromuscul Disord. 2015 Jun;25(6):488-92. doi: 10.1016/j.nmd.2015.04.002. Epub 2015 Apr 9.

PMID:
25913210
3.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

4.

Congenital fiber type disproportion myopathy caused by LMNA mutations.

Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK.

J Neurol Sci. 2014 May 15;340(1-2):94-8. doi: 10.1016/j.jns.2014.02.036. Epub 2014 Mar 5.

PMID:
24642510
5.

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

Citirak G, Witting N, Duno M, Werlauff U, Petri H, Vissing J.

Neuromuscul Disord. 2014 Apr;24(4):325-30. doi: 10.1016/j.nmd.2013.12.008. Epub 2014 Jan 3.

PMID:
24507666
6.

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN; Centers for Mendelian Genomics, Gibbs RA, Lupski JR.

Eur J Hum Genet. 2014 Sep;22(9):1145-8. doi: 10.1038/ejhg.2013.291. Epub 2014 Jan 15.

7.

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Malfatti E, Schaeffer U, Chapon F, Yang Y, Eymard B, Xu R, Laporte J, Romero NB.

Neuromuscul Disord. 2013 Dec;23(12):992-7. doi: 10.1016/j.nmd.2013.07.003. Epub 2013 Oct 2.

PMID:
24095155
8.

Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?

Fidzianska A, Madej-Pilarczyk A, Hausmanowa-Petrusewicz I.

Clin Neuropathol. 2014 Jan-Feb;33(1):61-4. doi: 10.5414/NP300657.

PMID:
23924754
9.

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.

Esposito T, Sampaolo S, Limongelli G, Varone A, Formicola D, Diodato D, Farina O, Napolitano F, Pacileo G, Gianfrancesco F, Di Iorio G.

Orphanet J Rare Dis. 2013 Jun 21;8:91. doi: 10.1186/1750-1172-8-91.

10.

Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome.

Bing Q, Hu J, Li N, Shen HR, Zhao Z.

Clin Neuropathol. 2013 Nov-Dec;32(6):471-9. doi: 10.5414/NP300598.

PMID:
23743156
11.

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ.

Neuromuscul Disord. 2013 May;23(5):432-6. doi: 10.1016/j.nmd.2013.02.009. Epub 2013 Mar 9.

12.

Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy.

Nakamura K, Kato M, Sasaki A, Shiihara T, Hayasaka K.

Pediatr Int. 2012 Oct;54(5):709-11. doi: 10.1111/j.1442-200X.2012.03594.x.

PMID:
23005904
13.

Congenital myopathies: clinical and immunohistochemical study.

Thaha F, Gayathri N, Nalini A.

Neurol India. 2011 Nov-Dec;59(6):879-83. doi: 10.4103/0028-3886.91369.

PMID:
22234203
14.

Congenital fiber-type disproportion.

Clarke NF.

Semin Pediatr Neurol. 2011 Dec;18(4):264-71. doi: 10.1016/j.spen.2011.10.008. Review.

PMID:
22172422
15.

Orthognathic surgery in primary myopathies: severe case of congenital fiber type disproportion with long-term follow-up and review of the literature.

Lehman H, Harari D, Tarazi E, Stheyer A, Casap N.

J Oral Maxillofac Surg. 2012 Jul;70(7):1636-42. doi: 10.1016/j.joms.2011.06.214. Epub 2011 Aug 24. Review. No abstract available.

PMID:
21864970
16.

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.

Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ.

Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1.

PMID:
21288719
17.

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F.

Neuromuscul Disord. 2010 Dec;20(12):796-800. doi: 10.1016/j.nmd.2010.07.274. Epub 2010 Oct 14.

PMID:
20951040
18.

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP.

J Neurol Sci. 2011 Jan 15;300(1-2):107-13. doi: 10.1016/j.jns.2010.09.011.

PMID:
20937510
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