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Items: 1 to 20 of 139

1.

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.

de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE.

Hum Mol Genet. 1997 Sep;6(9):1499-504.

2.

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E.

Hum Mol Genet. 1997 Sep;6(9):1505-11.

3.

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.

Tanner SM, Schneider V, Thomas NS, Clarke A, Lazarou L, Liechti-Gallati S.

Neuromuscul Disord. 1999 Jan;9(1):41-9.

PMID:
10063835
4.
5.

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel JL.

Hum Mutat. 1999;14(4):320-5.

PMID:
10502779
6.

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL.

Hum Genet. 2003 Feb;112(2):135-42. Epub 2002 Nov 28.

PMID:
12522554
7.

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

Vincent MC, Guiraud-Chaumeil C, Laporte J, Manouvrier-Hanu S, Mandel JL.

J Med Genet. 1998 Mar;35(3):241-3.

8.

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.

Nishino I, Minami N, Kobayashi O, Ikezawa M, Goto Y, Arahata K, Nonaka I.

Neuromuscul Disord. 1998 Oct;8(7):453-8.

PMID:
9829274
9.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
10.

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.

Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S.

Hum Mutat. 2002 Feb;19(2):114-21.

PMID:
11793470
11.

[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene].

Watanabe T, Watanabe M, Saito T, Higashitani A, Tanaka S, Nishino I, Nonaka I.

No To Hattatsu. 1998 Nov;30(6):523-7. Review. Japanese.

PMID:
9844418
12.

Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1).

Kioschis P, Wiemann S, Heiss NS, Francis F, Götz C, Poustka A, Taudien S, Platzer M, Wiehe T, Beckmann G, Weber J, Nordsiek G, Rosenthal A.

Genomics. 1998 Dec 1;54(2):256-66.

PMID:
9828128
13.

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N.

Nat Genet. 1996 Jun;13(2):175-82.

PMID:
8640223
14.

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.

Hum Mutat. 2000;15(5):393-409. Review.

PMID:
10790201
15.

A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy.

Hammans SR, Robinson DO, Moutou C, Kennedy CR, Dennis NR, Hughes PJ, Ellison DW.

Neuromuscul Disord. 2000 Feb;10(2):133-7.

PMID:
10714588
16.

A double mutation in a patient with X-linked myotubular myopathy.

Tachi N, Kozuka N, Chiba S, Miyaji M, Watanabe I.

Pediatr Neurol. 2001 Apr;24(4):297-9.

PMID:
11377105
17.

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

Flex E, De Luca A, D'Apice MR, Buccino A, Dallapiccola B, Novelli G.

Neuromuscul Disord. 2002 Jun;12(5):501-5.

PMID:
12031625
18.

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

Laporte J, Kress W, Mandel JL.

Ann Neurol. 2001 Jul;50(1):42-6.

PMID:
11456308
19.

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.

Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I.

Neuromuscul Disord. 2005 Mar;15(3):245-52. Epub 2005 Jan 28.

PMID:
15725586
20.

[Myotubular myopathy].

Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM.

Rev Neurol (Paris). 2000 Nov;156(11):960-4. Review. French.

PMID:
11119047
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