Selected Publications
Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia K, Gregory A, Rooney WD, Hogarth P, Hayflick SJ. Neuroimaging features of Neurodegeneration with Brain Iron Accumulation (NBIA). Review. AJNR, 2011 Sep 15. [Epub ahead of print].
Kruer M, Gregory A, Hayflick SJ. Fatty Acid Hydroxylase-Associated Neurodegeneration. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2011 Jun 28.
Kruer MC, Hiken M, Gregory A, Malandrini A, Clark D, Hogarth P, Grafe M, Hayflick SJ, Woltjer RL. Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain. 2011 Apr;134(Pt 4):947-58.
Kruer MC*, Paisan-Ruiz C*, Boddaert N*, Yoon MY, Gregory A, Polster BJ, Malandrini A, Woltjer RL, Munnich A, Gobin S, Palmeri S, Edvardson S, Hardy J, Houlden HH, Hayflick SJ. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol. 2010 Nov;68(5):611-8.
Chung SK, Vanbellinghen JF, Mullins JGL, Robinson A, Hantke J, Hammond C, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodouloul J, Andermannn F, Thomas RH, Harvey RJ, Lynch JW, Rees MI. Pathophysiological basis of dominant and recessive GLRA1 mutations in human hyperekplexia. J Neurosci. 2010 Jul 14;30(28):9612-20.
Yatsenko SA*, Kruer MC*, Bader PI, Corzo D, Li J, Pasztor L, Nowakowska B, Cai WW, Phieffer D, Gunderson K, Cheung SW. (2009). Distal 10q deletion syndrome: report of 5 cases with novel features and further genotype-phenotype correlation using array CGH. Clin Genet. 2009 Jul;76(1):54-62.
Kruer MC and Steiner RD. (2008). The role of evidence-based medicine and clinical trials in rare genetic disorders. Clin Genet, 74: 1-9.
Craig DW, Itty A, Panganiban C, Szelinger S, Kruer MC, Sekar A, Reiman D, Narayanan V, Stephan DA, Kerrigan JF. (2008). Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 Locus. Am J Hum Genet, 82(2):366-74.
Kerrigan JF, Craig DW, Kruer MC, Corneveaux JJ, Panganiban CB, Itty A, Reiman D, Ng Y, Stephan DA. (2007). Chromosomal abnormality at 6p25.1-25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy. Epilepsy Res, 75(1):70-3.
Corneveaux JJ, Kruer MC, Hu-Lince D, Ramsey KE, Zismann VL,Stephan DA, Craig DW, Huentelman MJ. (2007). SNP-based chromosomal copy number ascertainment following multiple displacement whole genome amplification. Biotechniques, 42(1):77-83.
Craig DW, Huentelman MJ, Hu-Lince D, Kruer MC, Zismann VL, Pearson J, Lee A, Stephan DA. (2005). Identification of disease-causing loci using an array-based genotyping approach on pooled DNA. BMC Genomics, 30(6):138.
Additional Publications
Solomon AJ, Spain RI, Kruer MC, Bourdette D. Inflammatory neurological disease in patients treated with tumor necrosis factor alpha inhibitors. Mult Scler. J 2011 Aug 3. [Epub ahead of print].
Kruer MC, Koch TK, Bourdette DN, Chabas D, Waubant E, Mueller S, Moscarello MA, Dalmau J, Woltjer RL, Adamus G. NMDA receptor encephalitis mimicking seronegative neuromyelitis optica. Neurology. 2010 May 4;74(18):1473-5.
Kruer MC, Kaplan AM, Etzl MM Jr, Carpentieri DF, Dickman PS, Chen K, Mathieson K, Irving A. The value of positron emission tomography and proliferation index in predicting progression in low-grade astrocytomas of childhood. J Neuro-oncol. 2009 Nov;95(2):239-45.
Fawcett J, Tsui BT, Kruer MC, and Duckworth WC. (2004). Reduced action of insulin glargine on protein and lipid metabolism: possible relationship to cellular hormone metabolism. Metabolism, 53(8): 1037-1044.
Bennett RG, Fawcett J, Kruer MC, Duckworth WC, and Hamel FG. (2003). Insulin inhibition of the proteasome is dependent on degradation of insulin by insulin-degrading enzyme. J Endocrinol, 177(3): 399-405.
* authors contributed equally
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