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Results: 1 to 20 of 137

Similar articles for PubMed (Select 21161685)

1.

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.

Cottinet SL, Bergemer-Fouquet AM, Toutain A, Sabourdy F, Maakaroun-Vermesse Z, Levade T, Chantepie A, Labarthe F.

J Inherit Metab Dis. 2011 Apr;34(2):515-22. doi: 10.1007/s10545-010-9251-y. Epub 2010 Dec 16.

PMID:
21161685
2.

Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of lamp-2-deficient mice.

Furuta A, Kikuchi H, Fujita H, Yamada D, Fujiwara Y, Kabuta T, Nishino I, Wada K, Uchiyama Y.

Am J Pathol. 2015 Jun;185(6):1713-23. doi: 10.1016/j.ajpath.2015.02.015.

PMID:
25998250
3.

Early onset cardiomyopathy in females with Danon disease.

Hedberg Oldfors C, Máthé G, Thomson K, Tulinius M, Karason K, Östman-Smith I, Oldfors A.

Neuromuscul Disord. 2015 Jun;25(6):493-501. doi: 10.1016/j.nmd.2015.03.005. Epub 2015 Mar 16.

PMID:
25900304
4.

No cardiomyopathy in X-linked myopathy with excessive autophagy.

Saraste A, Koskenvuo JW, Airaksinen J, Ramachandran N, Munteanu I, Udd B, Huovinen S, Kalimo H, Minassian BA.

Neuromuscul Disord. 2015 Jun;25(6):485-7. doi: 10.1016/j.nmd.2015.03.003. Epub 2015 Mar 17.

PMID:
25845477
5.

Brief Report: Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure.

Hashem SI, Perry CN, Bauer M, Han S, Clegg SD, Ouyang K, Deacon DC, Spinharney M, Panopoulos AD, Izpisua Belmonte JC, Frazer KA, Chen J, Gong Q, Zhou Z, Chi NC, Adler ED.

Stem Cells. 2015 Jul;33(7):2343-50. doi: 10.1002/stem.2015. Epub 2015 May 13.

PMID:
25826782
6.

LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease.

Rothaug M, Stroobants S, Schweizer M, Peters J, Zunke F, Allerding M, D'Hooge R, Saftig P, Blanz J.

Acta Neuropathol Commun. 2015 Jan 31;3:6. doi: 10.1186/s40478-014-0182-y.

7.

LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers.

Sikora J, Majer F, Kalina T.

J Cardiol. 2015 Jul;66(1):88-9. doi: 10.1016/j.jjcc.2014.12.014. Epub 2015 Jan 27. No abstract available.

PMID:
25636828
8.

Danon disease: a phenotypic expression of LAMP-2 deficiency.

Endo Y, Furuta A, Nishino I.

Acta Neuropathol. 2015 Mar;129(3):391-8. doi: 10.1007/s00401-015-1385-4. Epub 2015 Jan 15.

PMID:
25589223
9.

Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes.

Hashida Y, Wada T, Saito T, Ohta K, Kasahara Y, Yachie A.

J Cardiol. 2015 Aug;66(2):168-74. doi: 10.1016/j.jjcc.2014.09.011. Epub 2014 Nov 15.

PMID:
25458169
10.

Danon disease: clinical features, evaluation, and management.

D'souza RS, Levandowski C, Slavov D, Graw SL, Allen LA, Adler E, Mestroni L, Taylor MR.

Circ Heart Fail. 2014 Sep;7(5):843-9. doi: 10.1161/CIRCHEARTFAILURE.114.001105. Review. No abstract available.

PMID:
25228319
11.

Asymptomatic young man with Danon disease.

Kim J, Parikh P, Mahboob M, Arrighi JA, Atalay MK, Rowin EJ, Maron MS.

Tex Heart Inst J. 2014 Jun 1;41(3):332-4. doi: 10.14503/THIJ-13-3279. eCollection 2014 Jun.

12.

Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity.

Luo SS, Xi JY, Cai S, Zhao CB, Lu JH, Zhu WH, Lin J, Qiao K, Wang Y, Ye ZR.

Clin Neuropathol. 2014 Jul-Aug;33(4):284-91. doi: 10.5414/NP300668.

PMID:
24691104
13.

[Clinical characterization of patients with Danon disease].

He JQ, Wang Y, Meng Y, Chen L, Jiang TY.

Zhonghua Xin Xue Guan Bing Za Zhi. 2013 Jul;41(7):594-7. Chinese.

PMID:
24284189
14.

Danon Disease Due to a Novel LAMP2 Microduplication.

Lines MA, Hewson S, Halliday W, Sabatini PJ, Stockley T, Dipchand AI, Bowdin S, Siriwardena K.

JIMD Rep. 2014;14:11-6. doi: 10.1007/8904_2013_277. Epub 2013 Nov 13.

15.

Danon disease. A novel mutation in the LAMP-2 gene and ophthalmic abnormality.

He J, Wang Y, Jiang T.

Herz. 2014 Nov;39(7):877-9. doi: 10.1007/s00059-013-3900-5. Epub 2013 Aug 18. No abstract available.

PMID:
23955649
16.

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J.

J Inherit Metab Dis. 2014 Jan;37(1):117-24. doi: 10.1007/s10545-013-9617-z. Epub 2013 May 29.

PMID:
23716275
17.

Reply: To PMID 23168931.

van der Starre PJ.

Muscle Nerve. 2013 Jul;48(1):153. doi: 10.1002/mus.23799. Epub 2013 May 22. No abstract available.

PMID:
23695897
18.

Consider Danon disease in dilated cardiomyopathy with noncompaction.

Stöllberger C, Finsterer J.

Muscle Nerve. 2013 Jul;48(1):152-3. doi: 10.1002/mus.23790. Epub 2013 May 8. No abstract available.

PMID:
23653338
19.

Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene.

Fidzianska A, Madej-Pilarczyk A, Walczak E, Kuch M.

Neuropediatrics. 2013 Oct;44(5):276-80. doi: 10.1055/s-0033-1336017. Epub 2013 Mar 16.

PMID:
23504560
20.

Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease.

Furuta A, Wakabayashi K, Haratake J, Kikuchi H, Kabuta T, Mori F, Tokonami F, Katsumi Y, Tanioka F, Uchiyama Y, Nishino I, Wada K.

Acta Neuropathol. 2013 Mar;125(3):459-61. doi: 10.1007/s00401-012-1075-4. Epub 2012 Dec 23. No abstract available.

PMID:
23262972
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