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Items: 11

1.

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
2.

Core myopathies.

Jungbluth H, Sewry CA, Muntoni F.

Semin Pediatr Neurol. 2011 Dec;18(4):239-49. doi: 10.1016/j.spen.2011.10.005. Review.

PMID:
22172419
3.

Congenital myopathies and congenital muscular dystrophies.

Tubridy N, Fontaine B, Eymard B.

Curr Opin Neurol. 2001 Oct;14(5):575-82. Review.

PMID:
11562568
4.

Congenital myopathies and muscular dystrophies.

Gilbreath HR, Castro D, Iannaccone ST.

Neurol Clin. 2014 Aug;32(3):689-703, viii. doi: 10.1016/j.ncl.2014.04.006. Review.

PMID:
25037085
5.

[A family of autosomal dominant facio-limb-girdle muscular dystrophy].

Takao S, Kira J, Kohtake N, Yoshimura T, Goto I.

Fukuoka Igaku Zasshi. 1996 Dec;87(12):278-82. Review. Japanese.

PMID:
9011111
6.

Collagen type VI myopathies.

Bushby KM, Collins J, Hicks D.

Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12. Review.

PMID:
24443028
7.

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P, Romero NB.

Neuromuscul Disord. 2011 Jun;21(6):433-8. doi: 10.1016/j.nmd.2011.03.005. Epub 2011 May 6. Review.

PMID:
21530252
8.

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG.

Neuromuscul Disord. 2014 Feb;24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Review.

PMID:
24239060
9.

Distal myopathies.

Nonaka I.

Curr Opin Neurol. 1999 Oct;12(5):493-9. Review.

PMID:
10590885
10.

Functional effects of mutations identified in patients with multiminicore disease.

Zorzato F, Jungbluth H, Zhou H, Muntoni F, Treves S.

IUBMB Life. 2007 Jan;59(1):14-20. Review.

11.

Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.

Leung DG.

J Neurol. 2017 Jul;264(7):1320-1333. doi: 10.1007/s00415-016-8350-6. Epub 2016 Nov 25. Review.

PMID:
27888415

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