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Results: 1 to 20 of 101

1.

Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin.

Carboni N, Brancati F, Cocco E, Solla E, D'Apice MR, Mateddu A, McIntyre A, Fadda E, Mura M, Lattanzi G, Piras R, Maioli MA, Marrosu G, Novelli G, Marrosu MG, Hegele RA.

Muscle Nerve. 2014 Jun;49(6):928-30. doi: 10.1002/mus.24157. No abstract available.

PMID:
24375490
[PubMed - indexed for MEDLINE]
2.

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.

van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M.

Neurology. 2002 Aug 27;59(4):620-3.

PMID:
12196663
[PubMed - indexed for MEDLINE]
3.

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

Garg A, Speckman RA, Bowcock AM.

Am J Med. 2002 May;112(7):549-55.

PMID:
12015247
[PubMed - indexed for MEDLINE]
4.

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.

Krimm I, Ostlund C, Gilquin B, Couprie J, Hossenlopp P, Mornon JP, Bonne G, Courvalin JC, Worman HJ, Zinn-Justin S.

Structure. 2002 Jun;10(6):811-23.

PMID:
12057196
[PubMed - indexed for MEDLINE]
Free Article
5.

Distal muscular dystrophy in an English family.

Sumner D, Crawfurd MD, Harriman DG.

Brain. 1971;94(1):51-60. No abstract available.

PMID:
5552164
[PubMed - indexed for MEDLINE]
6.

Detection of preclinical Duchenne muscular dystrophy and its female carriers.

Beckmann R.

Isr J Med Sci. 1977 Feb;13(2):102-6. No abstract available.

PMID:
863671
[PubMed - indexed for MEDLINE]
7.

[Progressive lipodystrophy (Barraquer-Simon syndrome): differential diagnosis and clinical aspects].

Böcker FM, Weitbrecht WU, Neundörfer B.

Fortschr Neurol Psychiatr. 1986 Feb;54(2):59-67. German.

PMID:
3957218
[PubMed - indexed for MEDLINE]
8.

[Genetic epidemiology and prophylaxis of Duchenne type muscular dystrophy].

Kondo K.

Nihon Rinsho. 1982;40(7):1528-33. Review. Japanese. No abstract available.

PMID:
6757480
[PubMed - indexed for MEDLINE]
9.

[Epidemiology of progressive muscular dystrophy].

Stepniak U.

Neurol Neurochir Pol. 1979 May-Jun;13(3):323-9. Review. Polish. No abstract available.

PMID:
381960
[PubMed - indexed for MEDLINE]
10.

Muscular dystrophies, dilated cardiomyopathy, lipodystrophy and neuropathy: the nuclear connection.

Maidment SL, Ellis JA.

Expert Rev Mol Med. 2002 Jul 30;4(17):1-21. Review.

PMID:
14585157
[PubMed - indexed for MEDLINE]
11.

[Peripheral myopathies in Finland--a new kind of muscular dystrophy in the leg].

Udd B, Partanen J, Halonen P, Somer H, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Laulumaa V, et al.

Duodecim. 1992;108(15):1331-8. Review. Finnish. No abstract available.

PMID:
1366093
[PubMed - indexed for MEDLINE]
12.

Oculo-pharyngeal muscular dystrophy in six siblings with paradoxical EMG findings.

Jaloveckas AP, Borges J, Doninguez A, Horande M, Segal H.

Electroencephalogr Clin Neurophysiol. 1968 Oct;25(4):416. No abstract available.

PMID:
4176629
[PubMed - indexed for MEDLINE]
13.

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I.

J Clin Invest. 2009 Sep;119(9):2623-33. doi: 10.1172/JCI38660. Epub 2009 Aug 10.

PMID:
19726876
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Reasons to be cheerful. Genetic diagnosis and therapy are offering hope to people with muscular dystrophy.

Bird C.

Nurs Times. 2001 Aug 2-8;97(31):25. No abstract available.

PMID:
11957528
[PubMed - indexed for MEDLINE]
15.

Pseudohypertrophic muscular dystrophy of childhood: an epidemiological survey in Victoria.

Lawrence EF, Brown B, Hopkins IJ.

Aust N Z J Med. 1973 Apr;3(2):142-51. No abstract available.

PMID:
4515111
[PubMed - indexed for MEDLINE]
16.

[Autosomal recessive distal muscular dystrophy--a new type of distal muscular dystrophy observed characteristically in Japan].

Miyoshi K, Iwasa M, Kawai H, Sasaki N, Kusaka K, Yagita M, Hiasa M, Tada Y.

Nihon Rinsho. 1977 Nov;35(11):3922-8. Japanese. No abstract available.

PMID:
599673
[PubMed - indexed for MEDLINE]
17.

Genetic counselling in neuromuscular diseases in Western Australia.

Hurse PV, Kakulas BA.

Proc Aust Assoc Neurol. 1974;11:145-53. No abstract available.

PMID:
4469625
[PubMed - indexed for MEDLINE]
18.

A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.

Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, Bonne G.

Neuromuscul Disord. 2001 Sep;11(6-7):542-6.

PMID:
11525883
[PubMed - indexed for MEDLINE]
19.

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G.

Muscle Nerve. 2004 Oct;30(4):444-50.

PMID:
15372542
[PubMed - indexed for MEDLINE]
20.

The genetics of muscular dystrophies.

Harper PS.

Prog Med Genet. 1985;6:53-90. Review. No abstract available.

PMID:
3915367
[PubMed - indexed for MEDLINE]

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