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Items: 15

1.

Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.

Schessl J, Kress W, Schoser B.

Muscle Nerve. 2012 May;45(5):740-2. doi: 10.1002/mus.23281.

PMID:
22499103
2.

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
3.

Other limb-girdle muscular dystrophies.

Amato AA.

Handb Clin Neurol. 2011;101:119-24. doi: 10.1016/B978-0-08-045031-5.00008-6. Review.

PMID:
21496628
4.

[Autosomal recessive limb-girdle muscular dystrophy].

Hernández-Caballero ME, Miranda-Duarte A, Escobar-Cedillo RE, Villegas-Castrejon H.

Rev Neurol. 2010 Oct 16;51(8):489-96. Review. Spanish.

5.
6.

Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.

Liewluck T, Tracy JA, Sorenson EJ, Engel AG.

Neuromuscul Disord. 2013 Feb;23(2):133-8. doi: 10.1016/j.nmd.2012.09.010. Epub 2012 Nov 9. Review.

PMID:
23142638
7.

Caveolinopathies: from the biology of caveolin-3 to human diseases.

Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C.

Eur J Hum Genet. 2010 Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103. Epub 2009 Jul 8. Review. Erratum in: Eur J Hum Genet. 2009 Dec;17(12):1692.

8.

[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].

Kawai H.

Brain Nerve. 2011 Feb;63(2):147-56. Review. Japanese.

PMID:
21301039
9.

ANO5-Related Muscle Diseases.

Penttilä S, Palmio J, Udd B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Nov 29.

10.

Diagnostic strategy for limb-girdle muscular dystrophies.

Eymard B, Lévy N.

Rev Neurol (Paris). 2012 Dec;168(12):919-26. doi: 10.1016/j.neurol.2012.03.003. Epub 2012 Jun 6. Review.

PMID:
22677325
11.

Limb-girdle muscular dystrophy 2H and the role of TRIM32.

Shieh PB, Kudryashova E, Spencer MJ.

Handb Clin Neurol. 2011;101:125-33. doi: 10.1016/B978-0-08-045031-5.00009-8. Review.

PMID:
21496629
12.

Distal myopathies.

Pénisson-Besnier I.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):534-45. doi: 10.1016/j.neurol.2012.09.021. Epub 2013 Sep 3. Review.

PMID:
24008050
13.

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

Udd B.

Biochim Biophys Acta. 2007 Feb;1772(2):145-58. Epub 2006 Aug 18. Review.

14.

Distal myopathies.

Udd B.

Curr Neurol Neurosci Rep. 2014 Mar;14(3):434. doi: 10.1007/s11910-013-0434-4. Review.

PMID:
24477389
15.

Distal myopathies in Finnish patients.

Palmio J, Jokela M, Sandell S, Suominen T, Penttilä S, Udd B.

Duodecim. 2016;132(18):1635-44. Review.

PMID:
29188941

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