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Items: 1 to 20 of 175

1.

X-linked myotubular myopathy: clinical observations in ten additional cases.

Joseph M, Pai GS, Holden KR, Herman G.

Am J Med Genet. 1995 Nov 6;59(2):168-73.

PMID:
8588581
2.

Genetic linkage heterogeneity in myotubular myopathy.

Samson F, Mesnard L, Heimburger M, Hanauer A, Chevallay M, Mercadier JJ, Pelissier JF, Feingold N, Junien C, Mandel JL, et al.

Am J Hum Genet. 1995 Jul;57(1):120-6.

3.

Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder.

Bucher HU, Boltshauser E, Briner J, Gnehm HE, Janzer RC.

Helv Paediatr Acta. 1986 Oct;41(4):291-300.

PMID:
3793508
4.
5.
6.

X-linked myotubular myopathy: refinement of the critical gene region.

Smolenicka Z, Laporte J, Hu L, Dahl N, Fitzpatrick J, Kress W, Liechti-Gallati S.

Neuromuscul Disord. 1996 Aug;6(4):275-81. Review.

PMID:
8887957
7.

Germline mosaicism in X-linked myotubular myopathy.

Häne BG, Rogers RC, Schwartz CE.

Clin Genet. 1999 Jul;56(1):77-81.

PMID:
10466421
8.

The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.

Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P, et al.

Genet Couns. 1994;5(1):1-10.

PMID:
8031529
9.
10.

X-linked myotubular myopathy: clinical and pathological findings in a family.

Oldfors A, Kyllerman M, Wahlström J, Darnfors C, Henriksson KG.

Clin Genet. 1989 Jul;36(1):5-14. Review.

PMID:
2670345
11.

Medical complications in long-term survivors with X-linked myotubular myopathy.

Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A.

J Pediatr. 1999 Feb;134(2):206-14.

PMID:
9931531
12.

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.

Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, Liechti-Gallati S.

Hum Genet. 1999 Mar;104(3):249-53.

PMID:
10323249
13.

[Myotubular myopathy linked to chromosome X. Pathological and clinical case study].

García-Bragado F, Hernández M, de Miguel C, López Unzu A, Martínez B.

Arch Neurobiol (Madr). 1990 May-Jun;53(3):134-7. Spanish.

PMID:
2241471
14.

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

Thomas NS, Williams H, Cole G, Roberts K, Clarke A, Liechti-Gallati S, Braga S, Gerber A, Meier C, Moser H, et al.

J Med Genet. 1990 May;27(5):284-7.

15.

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.

Schrander-Stumpel C, Höweler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, Fryns JP.

Am J Med Genet. 1995 May 22;57(1):107-16.

PMID:
7645588
16.

X-linked myotubular myopathy: a linkage study.

Darnfors C, Larsson HE, Oldfors A, Kyllerman M, Gustavson KH, Bjursell G, Wahlström J.

Clin Genet. 1990 May;37(5):335-40.

PMID:
1972354
17.

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.

PMID:
9305655
18.

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG.

J Med Genet. 1995 Sep;32(9):673-9. Review.

19.

Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers.

Hu LJ, Laporte J, Kress W, Dahl N.

Prenat Diagn. 1996 Mar;16(3):231-7.

PMID:
8710776
20.

Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

Strain L, Gosden CM, Brock DJ, Bonthron DT.

Am J Hum Genet. 1994 Feb;54(2):236-43.

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