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Items: 1 to 20 of 100

1.

Approach to the diagnosis of congenital myopathies.

North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies.

Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18.

2.

RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.

Illingworth MA, Main M, Pitt M, Feng L, Sewry CA, Gunny R, Vorstman E, Beeson D, Manzur A, Muntoni F, Robb SA.

Neuromuscul Disord. 2014 Aug;24(8):707-12. doi: 10.1016/j.nmd.2014.05.003. Epub 2014 May 23.

PMID:
24951453
3.

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
4.

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.

Dai Y, Wei X, Zhao Y, Ren H, Lan Z, Yang Y, Chen L, Cui L.

Neuromuscul Disord. 2015 Aug;25(8):617-24. doi: 10.1016/j.nmd.2015.03.002. Epub 2015 Mar 17.

PMID:
25987458
5.

Familial granulovacuolar lobular myopathy with electrical myotonia.

Juguilon A, Chad D, Bradley WG, Adelman L, Kelemen J, Bosch P, Munsat TL.

J Neurol Sci. 1982 Nov;56(2-3):133-40.

PMID:
6294254
6.

Diagnostic approach to the congenital muscular dystrophies.

Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies.

Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9.

7.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F.

Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.

8.

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T.

Clin Genet. 2016 Sep;90(3):199-210. doi: 10.1111/cge.12801. Epub 2016 Jun 2. Review.

PMID:
27197572
9.

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

Ravenscroft G, Laing NG, Bönnemann CG.

Brain. 2015 Feb;138(Pt 2):246-68. doi: 10.1093/brain/awu368. Epub 2014 Dec 31. Review.

10.

[Familial case of myotonia with muscular hypertrophy, weakness corrected by effort and atrophy of type II fibers].

Pépin B, Haguenau M, Mikol J.

Rev Neurol (Paris). 1975 Apr;131(4):285-92. French.

PMID:
1224112
11.

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB.

Yale J Biol Med. 2013 Mar;86(1):101-6. Epub 2013 Mar 12.

12.

Familial mixed congenital myopathy with rigid spine phenotype.

Reichmann H, Goebel HH, Schneider C, Toyka KV.

Muscle Nerve. 1997 Apr;20(4):411-7.

PMID:
9121497
13.

[Clinical forms of non-dystrophic congenital myotonia].

Penders CA, Delwaide PJ.

Acta Neurol Belg. 1972 Sep-Oct;72(5):366-72. French. No abstract available.

PMID:
4653791
14.

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.

Witting N, Werlauff U, Duno M, Vissing J.

Muscle Nerve. 2016 Mar;53(3):388-93. doi: 10.1002/mus.24765. Epub 2015 Aug 13.

PMID:
26172852
15.
16.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.

JAMA Neurol. 2015 Dec;72(12):1424-32. doi: 10.1001/jamaneurol.2015.2274.

PMID:
26436962
17.

[Congenital myopathies].

Vallat JM, Vital C, Le Blanc M.

Bord Med. 1972 Nov;5(18):2439-51. French. No abstract available.

PMID:
4661890
18.

Phenotypic variability in myotonia congenita.

Colding-Jørgensen E.

Muscle Nerve. 2005 Jul;32(1):19-34. Review.

PMID:
15786415
19.

Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature.

Hageman AT, Gabreëls FJ, Liem KD, Renkawek K, Boon JM.

J Neurol Sci. 1993 Mar;115(1):95-101. Review.

PMID:
8166775
20.

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S.

Hum Mol Genet. 2015 Aug 15;24(16):4636-47. doi: 10.1093/hmg/ddv195. Epub 2015 May 27.

PMID:
26019235

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