John W. Day, MD, PhD

Publications

• Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations
  Raphael, A. R., Couthouis, J., Sakamuri, S., Siskind, C., Vogel, H., & Gitler, A. D. (2014). Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. BRAIN RESEARCH, 1575, 66-71.
• Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1
  Wozniak, J. R., Mueller, B. A., Lim, K. O., Hemmy, L. S., & Day, J. W. (2014). Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1. JOURNAL OF THE NEUROLOGICAL SCIENCES, 341(1-2), 73-78.
• One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development
  Connolly, A. M., Florence, J. M., Cradock, M. M., Eagle, M., Flanigan, K. M., & Mendell, J. R. (2014). One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development. PEDIATRIC NEUROLOGY, 50(6), 557-563.
• Outcome reliability in non ambulatory boys/men with duchenne muscular dystrophy. Connolly, A. M., Malkus, E. C., Mendell, J. R., Flanigan, K. M., & Miller, J. P. (2014). Outcome reliability in non ambulatory boys/men with duchenne muscular dystrophy. Muscle & nerve.
  
• Ataluren treatment of patients with nonsense mutation dystrophinopathy. Bushby, K., Finkel, R., Wong, B., Barohn, R., & Campbell, C. (2014). Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle & nerve, 50(4), 477-87.
  
• United Dystrophinopathy Project. LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy JW Day. United Dystrophinopathy Project. LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy, (23440719).
  
• Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy. Mourkioti, F., Kustan, J., Kraft, P., Day, J. W., Zhao, M.-M., & Blau, H. M. (2013). Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy. Nature cell biology, 15(8), 895-904.
  
• Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Connolly, A. M., Florence, J. M., Cradock, M. M., Malkus, E. C., Schierbecker, J. R., & Eagle, M. (2013). Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscular disorders , 23(7), 529-539.
  
• Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1 Wozniak, J. R., Mueller, B. A., Bell, C. J., Muetzel, R. L., Lim, K. O., & Day, J. W. (2013). Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1. JOURNAL OF NEUROLOGY, 260(4), 1122-1131.
  
• Diagnostic odyssey of patients with myotonic dystrophy. Hilbert, J. E., Ashizawa, T., Day, J. W., Luebbe, E. A., Martens, W. B., & Moxley, R. T. (2013). Diagnostic odyssey of patients with myotonic dystrophy. Journal of neurology.
  
• A focal domain of extreme demethylation within D4Z4 in FSHD2 Hartweck, L. M., Anderson, L. J., Lemmers, R. J., Dandapat, A., Toso, E. A., & Kyba, M. (2013). A focal domain of extreme demethylation within D4Z4 in FSHD2. NEUROLOGY, 80(4), 392-399.
  
• Cerebral and muscle MRI abnormalities in myotonic dystrophy Franc, D. T., Muetzel, R. L., Robinson, P. R., Rodriguez, C. P., Dalton, J. C., & Day, J. W. (2012). Cerebral and muscle MRI abnormalities in myotonic dystrophy. NEUROMUSCULAR DISORDERS, 22(6), 483-491.
  
• Clinical and genetic features of spinocerebellar ataxia type 8. Ikeda, Y., Ranum, L. Pw., & Day, J. W. (2012). Clinical and genetic features of spinocerebellar ataxia type 8. Handbook of clinical neurology, 103, 493-505.
  
• Spinocerebellar ataxia type 5. Dick, K. A., Ikeda, Y., Day, J. W., & Ranum, L. Pw. (2012). Spinocerebellar ataxia type 5. Handbook of clinical neurology, 103, 451-459.
  
• LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy. Flanigan, K. M., Ceco, E., Lamar, K. M., Kaminoh, Y., & Dunn, D. M. (2012). LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy. Annals of neurology.
  
• 2010 Marigold therapeutic strategies for myotonic dystrophy. Blonsky, K., Monckton, D., Wieringa, B., Schoser, B., Day, J. W., & Engelen, B. van. (2012). 2010 Marigold therapeutic strategies for myotonic dystrophy. Neuromuscular disorders , 22(1), 87-94.
  
• Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy Escolar, D. M., Hache, L. P., Clemens, P. R., Cnaan, A., McDonald, C. M., & Connolly, A. M. (2011). Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy. NEUROLOGY, 77(5), 444-452.
  
• Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy Rau, F., Freyermuth, F., Fugier, C., Villemin, J.-P., Fischer, M.-C., & Charlet-Berguerand, N. (2011). Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. NATURE STRUCTURAL & MOLECULAR BIOLOGY, 18(7), 840-U120.
  
• Nonsense Mutation-Associated Becker Muscular Dystrophy: Interplay Between Exon Definition and Splicing Regulatory Elements within the DMD Gene Flanigan, K. M., Dunn, D. M., von Niederhausern, A., Soltanzadeh, P., Howard, M. T., & Weiss, R. B. (2011). Nonsense Mutation-Associated Becker Muscular Dystrophy: Interplay Between Exon Definition and Splicing Regulatory Elements within the DMD Gene. HUMAN MUTATION, 32(3), 299-308.
  
• White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: A diffusion tensor imaging study Wozniak, J. R., Mueller, B. A., Ward, E. E., Lim, K. O., & Day, J. W. (2011). White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: A diffusion tensor imaging study. NEUROMUSCULAR DISORDERS, 21(2), 89-96.
  
• TRAUMA, TDP-43, AND AMYOTROPHIC LATERAL SCLEROSIS Appel, S. H., Cwik, V. A., & Day, J. W. (2010). TRAUMA, TDP-43, AND AMYOTROPHIC LATERAL SCLEROSIS. MUSCLE & NERVE, 42(6), 851-852.
  
• Targeting parents for the treatment of pediatric obesity in boys with Duchenne muscular dystrophy: A case series Arikian, A., Boutelle, K., Peterson, C. B., Dalton, J., Day, J. W., & Crow, S. J. (2010). Targeting parents for the treatment of pediatric obesity in boys with Duchenne muscular dystrophy: A case series. EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY, 15(3), E161-E165.
  
• Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort Flanigan, K. M., Dunn, D. M., von Niederhausern, A., Soltanzadeh, P., Gappmaier, E., & Weiss, R. B. (2009). Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort. HUMAN MUTATION, 30(12), 1657-1666.
  
• SNP Haplotype Mapping in a Small ALS Family Krueger, K. Ad., Tsuji, S., Fukuda, Y., Takahashi, Y., Goto, J., & Ranum, L. Pw. (2009). SNP Haplotype Mapping in a Small ALS Family. PLOS ONE, 4(5).
  
• Congenital muscular dystrophy in a new age Day, J. W. (2008). Congenital muscular dystrophy in a new age. NEUROLOGY, 71(5), 308-309.
  
• Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families Saito, T., Amakusa, Y., Kimura, T., Yahara, O., Aizawa, H., & Matsuura, T. (2008). Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. NEUROGENETICS, 9(1), 61-63.
  
• DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression Margolis, J. M., Schoser, B. G., Moseley, M. L., Day, J. W., & Ranum, L. Pw. (2006). DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. HUMAN MOLECULAR GENETICS, 15(11), 1808-1815.
  
• Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation Trudeau, M. M., DALTON, J. C., Day, J. W., Ranum, L. Pw., & Meisler, M. H. (2006). Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. JOURNAL OF MEDICAL GENETICS, 43(6), 527-530.
  
• Spectrin mutations cause spinocerebellar ataxia type 5 Ikeda, Y., Dick, K. A., Weatherspoon, M. R., Gincel, D., Armbrust, K. R., & Ranum, L. Pw. (2006). Spectrin mutations cause spinocerebellar ataxia type 5. NATURE GENETICS, 38(2), 184-190.
  
• Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520. Meisler, M. H., Trudeau, M. M., DALTON, J. C., Day, J. W., & Ranum, L. Pw. (2006). Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520. Human genetics, 118(6), 776-?.
  
• Dominant non-coding repeat expansions in human disease. Dick, K. A., Margolis, J. M., Day, J. W., & Ranum, L. Pw. (2006). Dominant non-coding repeat expansions in human disease. Genome dynamics, 1, 67-83.
  
• Genetics and molecular pathogenesis of the myotonic dystrophies. Day, J. W., & Ranum, L. Pw. (2005). Genetics and molecular pathogenesis of the myotonic dystrophies. Current neurology and neuroscience reports, 5(1), 55-59.
  
• RNA pathogenesis of the myotonic dystrophies Day, J. W., & Ranum, L. Pw. (2005). RNA pathogenesis of the myotonic dystrophies. NEUROMUSCULAR DISORDERS, 15(1), 5-16.
  
• Sudden cardiac death in myotonic dystrophy type 2 Schoser, B. Gh., Ricker, K., Schneider-Gold, C., Hengstenberg, C., Durre, J., & Ranum, L. Pw. (2004). Sudden cardiac death in myotonic dystrophy type 2. NEUROLOGY, 63(12), 2402-2404.
  
• Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia Ikeda, Y., DALTON, J. C., Moseley, M. L., Gardner, K. L., Bird, T. D., & Ranum, L. Pw. (2004). Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia. AMERICAN JOURNAL OF HUMAN GENETICS, 75(1), 3-16.
  
• Myotonic dystrophy: RNA pathogenesis comes into focus Ranum, L. Pw., & Day, J. W. (2004). Myotonic dystrophy: RNA pathogenesis comes into focus. AMERICAN JOURNAL OF HUMAN GENETICS, 74(5), 793-804.
  
• Rapid resolution of quadriplegic CIDP by combined plasmapheresis and IVIg Walk, D., Li, L. Yj., Parry, G. J., & Day, J. W. (2004). Rapid resolution of quadriplegic CIDP by combined plasmapheresis and IVIg. NEUROLOGY, 62(1), 155-156.
  
• Myotonic dystrophy type 2: Human founder haplotype and evolutionary conservation of the repeat tract Liquori, C. L., Ikeda, Y., Weatherspoon, M., Ricker, K., Schoser, B. Gh., & Ranum, L. Pw. (2003). Myotonic dystrophy type 2: Human founder haplotype and evolutionary conservation of the repeat tract. AMERICAN JOURNAL OF HUMAN GENETICS, 73(4), 849-862.
  
• Autoimmune rippling muscle Muley, S. A., & Day, J. W. (2003). Autoimmune rippling muscle. NEUROLOGY, 61(6), 869-870.
  
• Myotonic dystrophy type 2 - Molecular, diagnostic and clinical spectrum Day, J. W., Ricker, K., Jacobsen, J. F., Rasmussen, L. J., Dick, K. A., & Ranum, L. Pw. (2003). Myotonic dystrophy type 2 - Molecular, diagnostic and clinical spectrum. NEUROLOGY, 60(4), 657-664.
  
• Molecular genetics of spinocerebellar ataxia type 8 (SCA8) Mosemiller, A. K., DALTON, J. C., Day, J. W., & Ranum, L. Pw. (2003). Molecular genetics of spinocerebellar ataxia type 8 (SCA8). CYTOGENETIC AND GENOME RESEARCH, 100(1-4), 175-183.
  
• Randomized, controlled trial of intravenous immunoglobulin in myasthenia gravis Wolfe, G. I., Barohn, R. J., Foster, B. M., Jackson, C. E., Kissel, J. T., & Mendell, J. R. (2002). Randomized, controlled trial of intravenous immunoglobulin in myasthenia gravis. MUSCLE & NERVE, 26(4), 549-552.
  
• Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Ranum, L. Pw., & Day, J. W. (2002). Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Current neurology and neuroscience reports, 2(5), 465-470.
  
• Force assessment in periodic paralysis after electrical muscle stimulation Day, J. W., Sakamoto, C., Parry, G. J., Lehmann-Horn, F., & Iaizzo, P. A. (2002). Force assessment in periodic paralysis after electrical muscle stimulation. MAYO CLINIC PROCEEDINGS, 77(3), 232-240.
  
• Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9 Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kress, W., & Ranum, L. Pw. (2001). Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. SCIENCE, 293(5531), 864-867.
  
• Clinical illness due to parvovirus B19 infection after infusion of solvent/detergent-treated pooled plasma Koenigbauer, U. F., Eastlund, T., & Day, J. W. (2000). Clinical illness due to parvovirus B19 infection after infusion of solvent/detergent-treated pooled plasma. TRANSFUSION, 40(10), 1203-1206.
  
• Spinocerebellar ataxia type 8 - Clinical features in a large family Day, J. W., Schut, L. J., Moseley, M. L., Durand, A. C., & Ranum, L. Pw. (2000). Spinocerebellar ataxia type 8 - Clinical features in a large family. NEUROLOGY, 55(5), 649-657.
  
• SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance Moseley, M. L., Schut, M. J., Bird, T. D., Koob, M. D., Day, J. W., & Ranum, L. Pw. (2000). SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. HUMAN MOLECULAR GENETICS, 9(14), 2125-2130.
  
• Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2) Day, J. W., Roelofs, R., Leroy, B., Pech, I., Benzow, K., & Ranum, L. Pw. (1999). Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). NEUROMUSCULAR DISORDERS, 9(1), 19-27.
  
• Genetic mapping of a second myotonic dystrophy locus Ranum, L. Pw., Rasmussen, P. F., Benzow, K. A., Koob, M. D., & Day, J. W. (1998). Genetic mapping of a second myotonic dystrophy locus. NATURE GENETICS, 19(2), 196-198.
  
• Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome. GOMEZ, C. M., Maselli, R., Williams, J. M., Bhattacharyya, B. B., Wollmann, R. L., & Day, J. W. (1998). Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome. Annals of the New York Academy of Sciences, 841, 167-180.
  
• Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA Koob, M. D., Benzow, K. A., Bird, T. D., Day, J. W., Moseley, M. L., & Ranum, L. Pw. (1998). Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. NATURE GENETICS, 18(1), 72-75.
  
• Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents Bhattacharyya, B. J., Day, J. W., Gundeck, J. E., Leonard, S., Wollmann, R. L., & GOMEZ, C. M. (1997). Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents. SYNAPSE, 27(4), 367-377.
  
• Slow-channel transgenic mice: A model of postsynaptic organellar degeneration at the neuromuscular junction GOMEZ, C. M., Maselli, R., Gundeck, J. E., Chao, M., Day, J. W., & Wollmann, R. L. (1997). Slow-channel transgenic mice: A model of postsynaptic organellar degeneration at the neuromuscular junction. JOURNAL OF NEUROSCIENCE, 17(11), 4170-4179.
  
• An improved method for muscle force neuromuscular disease assessment Brass, T. J., Loushin, M. Kh., Day, J. W., & Iaizzo, P. A. (1996). An improved method for muscle force neuromuscular disease assessment. JOURNAL OF MEDICAL ENGINEERING & TECHNOLOGY, 20(2), 67-74.
  
• Transgenic mouse model of the slow-channel syndrome GOMEZ, C. M., Bhattacharyya, B. B., Charnet, P., Day, J. W., Labarca, C., & Lambert, E. H. (1996). Transgenic mouse model of the slow-channel syndrome. MUSCLE & NERVE, 19(1), 79-87.
  
• NICOTINIC ACETYLCHOLINE-RECEPTOR DESENSITIZATION IS REGULATED BY ACTIVATION-INDUCED EXTRACELLULAR ADENOSINE ACCUMULATION Pitchford, S., Day, J. W., Gordon, A., & MOCHLYROSEN, D. (1992). NICOTINIC ACETYLCHOLINE-RECEPTOR DESENSITIZATION IS REGULATED BY ACTIVATION-INDUCED EXTRACELLULAR ADENOSINE ACCUMULATION. JOURNAL OF NEUROSCIENCE, 12(11), 4540-4544.
  
• NORMOCALCEMIC TETANY ABOLISHED BY CALCIUM INFUSION Day, J. W., & Parry, G. J. (1990). NORMOCALCEMIC TETANY ABOLISHED BY CALCIUM INFUSION. ANNALS OF NEUROLOGY, 27(4), 438-440.
  
• THUNDERCLAP HEADACHE - SYMPTOM OF UNRUPTURED CEREBRAL ANEURYSM Day, J. W., & Raskin, N. H. (1986). THUNDERCLAP HEADACHE - SYMPTOM OF UNRUPTURED CEREBRAL ANEURYSM. LANCET, 2(8518), 1247-1248.
  
• TIME COURSE OF MINIATURE POSTSYNAPTIC POTENTIALS AT THE MAUTHNER FIBER GIANT SYNAPSE OF THE HATCHETFISH Day, J. W., Huse, W. D., & Bennett, M. Vl. (1985). TIME COURSE OF MINIATURE POSTSYNAPTIC POTENTIALS AT THE MAUTHNER FIBER GIANT SYNAPSE OF THE HATCHETFISH. BRAIN RESEARCH, 325(1-2), 115-128.
  
• POSTSYNAPTIC CURRENTS AT THE MAUTHNER FIBER GIANT SYNAPSE OF THE HATCHETFISH Huse, W. D., Day, J. W., & Bennett, M. Vl. (1985). POSTSYNAPTIC CURRENTS AT THE MAUTHNER FIBER GIANT SYNAPSE OF THE HATCHETFISH. BRAIN RESEARCH, 325(1-2), 129-141.
  
• POSTSYNAPTIC DEPRESSION OF MAUTHNER CELL-MEDIATED STARTLE REFLEX, A POSSIBLE CONTRIBUTOR TO HABITUATION ALJURE, E., Day, J. W., & Bennett, M. Vl. (1980). POSTSYNAPTIC DEPRESSION OF MAUTHNER CELL-MEDIATED STARTLE REFLEX, A POSSIBLE CONTRIBUTOR TO HABITUATION. BRAIN RESEARCH, 188(1), 261-268.