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John W. Day, M.D., Ph.D. Professor, Department of Neurology and Institute of Human Genetics E-mail: johnday@umn.edu

Research Interests:

Dr. Day is the Co-Director of the Paul and Sheila Wellstone Muscular Dystrophy Center; Director of the Muscular Dystrophy Clinic and Director of the Neuromuscular Histology Laboratory. His clinical and research activities focus on characterizing the clinical, physiological, histologic and genetic features of skeletal muscle diseases (including the muscular dystrophies, myotonias and myotonic dystrophies), ALS and ataxia. Laboratory methods include muscle biopsy, EMG, single fiber EMG interpretation, and collaborative genetic studies including linkage analysis and tansgenic animal development.

Selected Publications:

(For a comprehensive list of recent publications, refer to PubMed, a service provided by the National Library of Medicine.)

Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LP, Ohno K, Matsuura T. Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. Neurogenetics. 2007 Dec 5; [Epub ahead of print]

Meisler MH, Trudeau MM, Dalton JC, Day JW, Ranum LP. Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520. Hum Genet. 2006 Feb;118(6):776.

Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.Nat Genet. 2006 Jul;38(7):758-69.

Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP. DM2 intronic
expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Hum Mol Genet. 2006 Jun 1;15(11):1808-15.

Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006 Feb;38(2):184-90.

Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet. 2006 Jun;43(6):527-30.

Day JW, Ranum LP. Genetics and molecular pathogenesis of the myotonic dystrophies. Curr Neurol Neurosci Rep. 2005 Feb;5(1):55-9.

Day JW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord. 2005 Jan;15(1):5-16.