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Results: 1 to 20 of 221

1.

Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy's disease).

Paradas C, Solano F, Carrillo F, Fernández C, Bautista J, Pintado E, Lucas M.

J Neurol. 2008 Jun;255(6):853-7. doi: 10.1007/s00415-008-0766-1. Epub 2008 May 2.

PMID:
18446311
[PubMed - indexed for MEDLINE]
2.

Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy.

Ishihara H, Kanda F, Nishio H, Sumino K, Chihara K.

J Neurol. 2001 Oct;248(10):856-60.

PMID:
11697521
[PubMed - indexed for MEDLINE]
3.

Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.

Lose F, Duffy DL, Kay GF, Kedda MA, Spurdle AB; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Australian Ovarian Cancer Study Management Group.

J Natl Cancer Inst. 2008 Nov 5;100(21):1519-29. doi: 10.1093/jnci/djn345. Epub 2008 Oct 28.

PMID:
18957670
[PubMed - indexed for MEDLINE]
Free Article
4.

Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease.

Greenland KJ, Beilin J, Castro J, Varghese PN, Zajac JD.

J Neurol. 2004 Jan;251(1):35-41.

PMID:
14999487
[PubMed - indexed for MEDLINE]
5.

Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.

Grogan PM, Tanner SM, Ørstavik KH, Knudsen GP, Saperstein DS, Vogel H, Barohn RJ, Herbelin LL, McVey AL, Katz JS.

Neurology. 2005 May 10;64(9):1638-40.

PMID:
15883335
[PubMed - indexed for MEDLINE]
6.

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

Sorarù G, D'Ascenzo C, Polo A, Palmieri A, Baggio L, Vergani L, Gellera C, Moretto G, Pegoraro E, Angelini C.

J Neurol Sci. 2008 Jan 15;264(1-2):100-5. Epub 2007 Sep 12.

PMID:
17854832
[PubMed - indexed for MEDLINE]
7.

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.

Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR.

Neurology. 1993 Apr;43(4):791-4.

PMID:
8469342
[PubMed - indexed for MEDLINE]
8.

[The DNA diagnosis of a familial case of Kennedy's spinal and bulbar amyotrophy].

Petrukhin AS, Zavadenko NN, Petrukhin AA, Evgrafov OV.

Zh Nevrol Psikhiatr Im S S Korsakova. 1997;97(3):45-8. Russian.

PMID:
9157759
[PubMed - indexed for MEDLINE]
9.

["Jaw drop" as an atypical manifestation of Kennedy's disease].

Larsen K, Smith TA.

Ugeskr Laeger. 2005 Aug 29;167(35):3310-1. Danish.

PMID:
16138977
[PubMed - indexed for MEDLINE]
10.

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.

Echaniz-Laguna A, Rousso E, Anheim M, Cossée M, Tranchant C.

Neurology. 2005 Apr 26;64(8):1458-60.

PMID:
15851746
[PubMed - indexed for MEDLINE]
11.

Kennedy's disease: genetic diagnosis of an inherited form of motor neuron disease.

Choi WT, MacLean HE, Chu S, Warne GL, Zajac JD.

Aust N Z J Med. 1993 Apr;23(2):187-92.

PMID:
8517843
[PubMed - indexed for MEDLINE]
12.

Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations.

Satoh M, Ogikubo S, Yoshizawa-Ogasawara A.

Endocr J. 2008 May;55(2):277-84. Epub 2008 Mar 7.

PMID:
18323675
[PubMed - indexed for MEDLINE]
Free Article
13.

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A.

BMC Med Genet. 2012 Aug 16;13:73.

PMID:
22894145
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[X-linked recessive bulbospinal muscular atrophy (Kennedy's disease). A family study].

Kaimen-Maciel DR, Medeiros M, Clímaco V, Kelian GR, da Silva LS, de Souza MM, Raskin S.

Arq Neuropsiquiatr. 1998 Sep;56(3B):639-45. Portuguese.

PMID:
9850762
[PubMed - indexed for MEDLINE]
15.

CHIP overexpression reduces mutant androgen receptor protein and ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model.

Adachi H, Waza M, Tokui K, Katsuno M, Minamiyama M, Tanaka F, Doyu M, Sobue G.

J Neurosci. 2007 May 9;27(19):5115-26.

PMID:
17494697
[PubMed - indexed for MEDLINE]
Free Article
16.

Kennedy's disease: clinical and molecular study of two Italian families.

Pareyson D, Castellotti B, Botti S, Defanti CA, Gellera C, Taroni F, Sghirlanzoni A.

Ital J Neurol Sci. 1995 Oct;16(7):467-71.

PMID:
8749704
[PubMed - indexed for MEDLINE]
17.

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers.

Sumita DR, Vainzof M, Campiotto S, Cerqueira AM, Cánovas M, Otto PA, Passos-Bueno MR, Zatz M.

Am J Med Genet. 1998 Dec 4;80(4):356-61.

PMID:
9856563
[PubMed - indexed for MEDLINE]
18.

[DNA-diagnosis of bulbospinal muscular atrophy (Kennedy's disease)].

Malygina NA, Kazakov AE, Dubchak LV.

Zh Nevrol Psikhiatr Im S S Korsakova. 1997;97(12):35-8. Russian.

PMID:
9591063
[PubMed - indexed for MEDLINE]
19.

Symptomatic dysferlin gene mutation carriers: characterization of two cases.

Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E.

Neurology. 2007 Apr 17;68(16):1284-9. Epub 2007 Feb 7.

PMID:
17287450
[PubMed - indexed for MEDLINE]
20.

Elevated creatine kinase and transaminases in asymptomatic SBMA.

Sorenson EJ, Klein CJ.

Amyotroph Lateral Scler. 2007 Feb;8(1):62-4.

PMID:
17364438
[PubMed - indexed for MEDLINE]

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