Loesch DZ - Search Results

1

Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene.

Fisher PR, Allan CY, Sanislav O, Atkinson A, Ngoei KRW, Kemp BE, Storey E, Loesch DZ, Annesley SJ. Fisher PR, et al. Among authors: loesch dz. Int J Mol Sci. 2021 Sep 27;22(19):10393. doi: 10.3390/ijms221910393. Int J Mol Sci. 2021. PMID: 34638732 Free PMC article. Clinical Trial.

2

Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.

Loesch DZ, Huggins R, Petrovic V, Slater H. Loesch DZ, et al. Am J Hum Genet. 1995 Dec;57(6):1408-13. Am J Hum Genet. 1995. PMID: 8533771 Free PMC article.

3

Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome.

Loesch DZ, Huggins RM, Taylor AK. Loesch DZ, et al. Am J Med Genet. 2002 Jan 15;107(2):136-42. doi: 10.1002/ajmg.10129. Am J Med Genet. 2002. PMID: 11807888

4

Magnetic resonance imaging study in older fragile X premutation male carriers.

Loesch DZ, Litewka L, Brotchie P, Huggins RM, Tassone F, Cook M. Loesch DZ, et al. Ann Neurol. 2005 Aug;58(2):326-30. doi: 10.1002/ana.20542. Ann Neurol. 2005. PMID: 16049924

5

Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats.

Loesch DZ, Litewka L, Churchyard A, Gould E, Tassone F, Cook M. Loesch DZ, et al. J Clin Neurosci. 2007 Mar;14(3):245-8. doi: 10.1016/j.jocn.2006.01.015. Epub 2006 Dec 27. J Clin Neurosci. 2007. PMID: 17194594

6

A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes.

Loesch DZ, Cook M, Litewka L, Gould E, Churchyard A, Tassone F, Slater HR, Storey E. Loesch DZ, et al. J Med Genet. 2008 Mar;45(3):179-81. doi: 10.1136/jmg.2007.054171. Epub 2007 Dec 5. J Med Genet. 2008. PMID: 18057083

7

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.

Loesch DZ, Khaniani MS, Slater HR, Rubio JP, Bui QM, Kotschet K, D'Souza W, Venn A, Kalitsis P, Choo AK, Burgess T, Johnson L, Evans A, Horne M. Loesch DZ, et al. Clin Genet. 2009 Nov;76(5):471-6. doi: 10.1111/j.1399-0004.2009.01275.x. Epub 2009 Sep 30. Clin Genet. 2009. PMID: 19796183 Free PMC article.

8

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Godler DE, Tassone F, Loesch DZ, Taylor AK, Gehling F, Hagerman RJ, Burgess T, Ganesamoorthy D, Hennerich D, Gordon L, Evans A, Choo KH, Slater HR. Godler DE, et al. Among authors: loesch dz. Hum Mol Genet. 2010 Apr 15;19(8):1618-32. doi: 10.1093/hmg/ddq037. Epub 2010 Jan 29. Hum Mol Genet. 2010. PMID: 20118148 Free PMC article.

9

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.

Loesch DZ, Godler DE, Evans A, Bui QM, Gehling F, Kotschet KE, Trost N, Storey E, Stimpson P, Kinsella G, Francis D, Thorburn DR, Venn A, Slater HR, Horne M. Loesch DZ, et al. Genet Med. 2011 May;13(5):392-9. doi: 10.1097/GIM.0b013e3182064362. Genet Med. 2011. PMID: 21270637 Free PMC article.

10

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism.

Loesch DZ, Kotschet K, Trost N, Greco CM, Kinsella G, Slater HR, Venn A, Horne M. Loesch DZ, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):502-6. doi: 10.1002/ajmg.b.31189. Epub 2011 Mar 28. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21445959 Free PMC article.

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