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Items: 1 to 20 of 77

1.

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP.

Neurology. 2002 Feb 26;58(4):593-602.

PMID:
11865138
2.

[Collagen VI-related muscle disorders].

Higuchi I.

Brain Nerve. 2011 Nov;63(11):1169-78. Review. Japanese.

PMID:
22068469
3.

Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.

Bönnemann CG, Finkel RS.

Semin Pediatr Neurol. 2002 Jun;9(2):81-99. Review.

PMID:
12139001
4.

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
5.

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.

Bertini E, Pepe G.

Eur J Paediatr Neurol. 2002;6(4):193-8. Review. No abstract available.

PMID:
12374585
6.

The 10 autosomal recessive limb-girdle muscular dystrophies.

Zatz M, de Paula F, Starling A, Vainzof M.

Neuromuscul Disord. 2003 Sep;13(7-8):532-44. Review.

PMID:
12921790
7.

Collagen VI related muscle disorders.

Lampe AK, Bushby KM.

J Med Genet. 2005 Sep;42(9):673-85. Review.

8.

Glycosylation defects in inherited muscle disease.

Hewitt JE, Grewal PK.

Cell Mol Life Sci. 2003 Feb;60(2):251-8. Review.

PMID:
12678490
9.

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
10.

Limb-girdle muscular dystrophies--from genetics to molecular pathology.

Laval SH, Bushby KM.

Neuropathol Appl Neurobiol. 2004 Apr;30(2):91-105. Review.

PMID:
15043707
11.

[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
12.

Collagen Type VI-Related Disorders.

Lampe AK, Flanigan KM, Bushby KM, Hicks D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Jun 25 [updated 2012 Aug 9].

13.

Caveolae and caveolin-3 in muscular dystrophy.

Galbiati F, Razani B, Lisanti MP.

Trends Mol Med. 2001 Oct;7(10):435-41. Review.

PMID:
11597517
14.

The collagen VI-related myopathies: muscle meets its matrix.

Bönnemann CG.

Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81. Review.

15.

Limb girdle muscular dystrophy: reappraisal of a rejected entity.

van der Kooi AJ, de Visser M, Barth PG.

Clin Neurol Neurosurg. 1994 Aug;96(3):209-18. Review.

PMID:
7988088
16.

Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).

Yonekawa T, Nishino I.

J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):280-7. doi: 10.1136/jnnp-2013-307052. Epub 2014 Jun 17. Review.

PMID:
24938411
17.

The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.

Bönnemann CG.

Handb Clin Neurol. 2011;101:81-96. doi: 10.1016/B978-0-08-045031-5.00005-0. Review.

18.

Distal myopathies.

Illa I.

J Neurol. 2000 Mar;247(3):169-74. Review.

PMID:
10787109
19.

Muscular dystrophies and other genetic myopathies.

Shieh PB.

Neurol Clin. 2013 Nov;31(4):1009-29. doi: 10.1016/j.ncl.2013.04.004. Review.

PMID:
24176421
20.

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.

Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN.

J Med Genet. 2001 Oct;38(10):649-57. Review.

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