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Items: 1 to 20 of 221

1.

A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness.

Kimura S, Ito K, Ueno H, Ikezawa M, Takeshima Y, Yoshioka K, Ozasa S, Nakamura K, Nomura K, Matsukura M, Mitsui K, Matsuo M, Miike T.

Brain Dev. 2009 Feb;31(2):169-72. doi: 10.1016/j.braindev.2008.03.004. Epub 2008 Apr 21.

PMID:
18430534
2.

Delivery of AAV2/9-microdystrophin genes incorporating helix 1 of the coiled-coil motif in the C-terminal domain of dystrophin improves muscle pathology and restores the level of α1-syntrophin and α-dystrobrevin in skeletal muscles of mdx mice.

Koo T, Malerba A, Athanasopoulos T, Trollet C, Boldrin L, Ferry A, Popplewell L, Foster H, Foster K, Dickson G.

Hum Gene Ther. 2011 Nov;22(11):1379-88. doi: 10.1089/hum.2011.020. Epub 2011 May 25.

3.

Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy.

Hattori N, Kaido M, Nishigaki T, Inui K, Fujimura H, Nishimura T, Naka T, Hazama T.

Neuromuscul Disord. 1999 Jun;9(4):220-6.

PMID:
10399748
4.
5.

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.

Au CG, Butler TL, Egan JR, Cooper ST, Lo HP, Compton AG, North KN, Winlaw DS.

Acta Neuropathol. 2008 Sep;116(3):235-46. doi: 10.1007/s00401-008-0369-z. Epub 2008 Apr 8.

PMID:
18392839
6.

Immunostaining of dystrophin and utrophin in skeletal muscle of dystrophinopathies.

Sahashi K, Ibi T, Suoh H, Nakao N, Tashiro M, Marui K, Arahata K, Sugita H.

Intern Med. 1994 May;33(5):277-83.

7.
8.

The expression of dystrophin and alpha1-syntrophin during skeletal muscle regeneration.

Hoshino S, Ohkoshi N, Ishii A, Kameya S, Takeda S, Shoji S.

J Muscle Res Cell Motil. 2001;22(2):185-91.

PMID:
11519741
9.

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.

Torelli S, Brown SC, Jimenez-Mallebrera C, Feng L, Muntoni F, Sewry CA.

Neuropathol Appl Neurobiol. 2004 Oct;30(5):540-5.

PMID:
15488030
10.

Independent localization of dystrophin N- and C-terminal regions to the sarcolemma of mdx mouse myofibres in vivo.

Dunckley MG, Wells KE, Piper TA, Wells DJ, Dickson G.

J Cell Sci. 1994 Jun;107 ( Pt 6):1469-75.

11.

Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene.

Bittner RE, Shorny S, Ferlings R, Sperl W, Kress W, Müller CR, Cremer M, Léger JJ, Voit T.

Neuromuscul Disord. 1995 Mar;5(2):81-92.

PMID:
7767097
12.
13.

A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation.

Patria SY, Alimsardjono H, Nishio H, Takeshima Y, Nakamura H, Matsuo M.

Proc Assoc Am Physicians. 1996 Jul;108(4):308-14.

PMID:
8863344
14.

Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex.

Newey SE, Benson MA, Ponting CP, Davies KE, Blake DJ.

Curr Biol. 2000 Oct 19;10(20):1295-8.

15.

Regulation of capacitative calcium entries by alpha1-syntrophin: association of TRPC1 with dystrophin complex and the PDZ domain of alpha1-syntrophin.

Vandebrouck A, Sabourin J, Rivet J, Balghi H, Sebille S, Kitzis A, Raymond G, Cognard C, Bourmeyster N, Constantin B.

FASEB J. 2007 Feb;21(2):608-17. Epub 2007 Jan 3.

PMID:
17202249
16.
17.

Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin.

Yang B, Jung D, Rafael JA, Chamberlain JS, Campbell KP.

J Biol Chem. 1995 Mar 10;270(10):4975-8.

18.

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.

Baskin B, Banwell B, Khater RA, Hawkins C, Ray PN.

Neuromuscul Disord. 2009 Mar;19(3):189-92. doi: 10.1016/j.nmd.2008.11.003. Epub 2009 Feb 18.

PMID:
19230662
20.

Different dystrophin-like complexes are expressed in neurons and glia.

Blake DJ, Hawkes R, Benson MA, Beesley PW.

J Cell Biol. 1999 Nov 1;147(3):645-58.

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