Publications
-
2010 Marigold therapeutic strategies for myotonic dystrophy.
Blonsky K,
Monckton D, Wieringa B, Schoser B, Day JW, Engelen Bv.
Neuromuscul Disord.
2012;
22
(1):
87-94
-
Cerebral and muscle MRI abnormalities in myotonic dystrophy.
Franc DT,
Muetzel RL, Robinson PR, Rodriguez CP, Dalton JC, Naughton CE, Mueller BA, Wozniak JR, Lim KO, Day JW.
Neuromuscul Disord.
2012;
22
(6):
483-91
-
Clinical and genetic features of spinocerebellar ataxia type 8.
Ikeda Y,
Ranum LP, Day JW.
Handb Clin Neurol.
2012:
103
493-505
-
Spinocerebellar ataxia type 5.
Dick KA,
Ikeda Y, Day JW, Ranum LP.
Handb Clin Neurol.
2012:
103
451-9
-
Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.
Rau F,
Freyermuth F, Fugier C, Villemin JP, Fischer MC, Jost B, Dembele D, Gourdon G, Nicole A, Duboc D, Wahbi K, Day JW, Fujimura H, Takahashi MP, Auboeuf D, Dreumont N, Furling D, Charlet-Berguerand N.
Nat Struct Mol Biol.
2011;
18
(7):
840-5
-
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan KM,
Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C, Weiss RB.
Hum Mutat.
2011;
32
(3):
299-308
-
Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy.
Escolar DM,
Hache LP, Clemens PR, Cnaan A, McDonald CM, Viswanathan V, Kornberg AJ, Bertorini TE, Nevo Y, Lotze T, Pestronk A, Ryan MM, Monasterio E, Day JW, Zimmerman A, Arrieta A, Henricson E, Mayhew J, Florence J, Hu F, Connolly AM.
Neurology.
2011;
77
(5):
444-52
-
White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: a diffusion tensor imaging study.
Wozniak JR,
Mueller BA, Ward EE, Lim KO, Day JW.
Neuromuscul Disord.
2011;
21
(2):
89-96
-
Targeting parents for the treatment of pediatric obesity in boys with Duchenne muscular dystrophy: a case series.
Arikian A,
Boutelle K, Peterson CB, Dalton J, Day JW, Crow SJ.
Eat Weight Disord.
2010;
15
(3):
e161-5
-
Trauma, TDP-43, and amyotrophic lateral sclerosis.
Appel SH,
Cwik VA, Day JW.
Muscle Nerve.
2010;
42
(6):
851-2
-
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM,
Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ, Weiss RB.
Hum Mutat.
2009;
30
(12):
1657-66
-
SNP haplotype mapping in a small ALS family.
Krueger KA,
Tsuji S, Fukuda Y, Takahashi Y, Goto J, Mitsui J, Ishiura H, Dalton JC, Miller MB, Day JW, Ranum LP.
PLoS One.
2009;
4
(5):
e5687
-
Congenital muscular dystrophy in a new age.
Day JW,
Neurology.
2008;
71
(5):
308-9
-
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.
Saito T,
Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LP, Ohno K, Matsuura T.
Neurogenetics.
2008;
9
(1):
61-3
-
DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.
Margolis JM,
Schoser BG, Moseley ML, Day JW, Ranum LP.
Hum Mol Genet.
2006;
15
(11):
1808-15
-
Dominant non-coding repeat expansions in human disease.
Dick KA,
Margolis JM, Day JW, Ranum LP.
Genome Dyn.
2006:
1
67-83
-
Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520.
Meisler MH,
Trudeau MM, Dalton JC, Day JW, Ranum LP.
Hum Genet.
2006;
118
(6):
776
-
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
Trudeau MM,
Dalton JC, Day JW, Ranum LP, Meisler MH.
J Med Genet.
2006;
43
(6):
527-30
-
Spectrin mutations cause spinocerebellar ataxia type 5.
Ikeda Y,
Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP.
Nat Genet.
2006;
38
(2):
184-90
-
Genetics and molecular pathogenesis of the myotonic dystrophies.
Day JW,
Ranum LP.
Curr Neurol Neurosci Rep.
2005;
5
(1):
55-9
-
RNA pathogenesis of the myotonic dystrophies.
Day JW,
Ranum LP.
Neuromuscul Disord.
2005;
15
(1):
5-16
-
Myotonic dystrophy: RNA pathogenesis comes into focus.
Ranum LP,
Day JW.
Am J Hum Genet.
2004;
74
(5):
793-804
-
Rapid resolution of quadriplegic CIDP by combined plasmapheresis and IVIg.
Walk D,
Li LY, Parry GJ, Day JW.
Neurology.
2004;
62
(1):
155-6
-
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.
Ikeda Y,
Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP.
Am J Hum Genet.
2004;
75
(1):
3-16
-
Sudden cardiac death in myotonic dystrophy type 2.
Schoser BG,
Ricker K, Schneider-Gold C, Hengstenberg C, Dürre J, Bültmann B, Kress W, Day JW, Ranum LP.
Neurology.
2004;
63
(12):
2402-4
-
Autoimmune rippling muscle.
Ashok Muley S,
Day JW.
Neurology.
2003;
61
(6):
869-70
-
Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
Mosemiller AK,
Dalton JC, Day JW, Ranum LP.
Cytogenet Genome Res.
2003;
100
(1-4):
175-83
-
Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.
Liquori CL,
Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP.
Am J Hum Genet.
2003;
73
(4):
849-62
-
Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.
Day JW,
Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP.
Neurology.
2003;
60
(4):
657-64
-
Force assessment in periodic paralysis after electrical muscle stimulation.
Day JW,
Sakamoto C, Parry GJ, Lehmann-Horn F, Iaizzo PA.
Mayo Clin Proc.
2002;
77
(3):
232-40
-
Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.
Ranum LP,
Day JW.
Curr Neurol Neurosci Rep.
2002;
2
(5):
465-70
-
Randomized, controlled trial of intravenous immunoglobulin in myasthenia gravis.
Wolfe GI,
Barohn RJ, Foster BM, Jackson CE, Kissel JT, Day JW, Thornton CA, Nations SP, Bryan WW, Amato AA, Freimer ML, Parry GJ.
Muscle Nerve.
2002;
26
(4):
549-52
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
Liquori CL,
Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP.
Science.
2001;
293
(5531):
864-7
-
Clinical illness due to parvovirus B19 infection after infusion of solvent/detergent-treated pooled plasma.
Koenigbauer UF,
Eastlund T, Day JW.
Transfusion.
2000;
40
(10):
1203-6
-
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.
Moseley ML,
Schut LJ, Bird TD, Koob MD, Day JW, Ranum LP.
Hum Mol Genet.
2000;
9
(14):
2125-30
-
Spinocerebellar ataxia type 8: clinical features in a large family.
Day JW,
Schut LJ, Moseley ML, Durand AC, Ranum LP.
Neurology.
2000;
55
(5):
649-57
-
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2).
Day JW,
Roelofs R, Leroy B, Pech I, Benzow K, Ranum LP.
Neuromuscul Disord.
1999;
9
(1):
19-27
-
Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome.
Gomez CM,
Maselli R, Williams JM, Bhattacharyya BB, Wollmann RL, Day JW.
Ann N Y Acad Sci.
1998:
841
167-80
-
Genetic mapping of a second myotonic dystrophy locus.
Ranum LP,
Rasmussen PF, Benzow KA, Koob MD, Day JW.
Nat Genet.
1998;
19
(2):
196-8
-
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.
Koob MD,
Benzow KA, Bird TD, Day JW, Moseley ML, Ranum LP.
Nat Genet.
1998;
18
(1):
72-5
-
Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents.
Bhattacharyya BJ,
Day JW, Gundeck JE, Leonard S, Wollmann RL, Gomez CM.
Synapse.
1997;
27
(4):
367-77
-
Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction.
Gomez CM,
Maselli R, Gundeck JE, Chao M, Day JW, Tamamizu S, Lasalde JA, McNamee M, Wollmann RL.
J Neurosci.
1997;
17
(11):
4170-9
-
An improved method for muscle force assessment in neuromuscular disease.
Brass TJ,
Loushin MK, Day JW, Iaizzo PA.
J Med Eng Technol.
1996 Mar-Apr;
20
(2):
67-74
-
A transgenic mouse model of the slow-channel syndrome.
Gomez CM,
Bhattacharyya BB, Charnet P, Day JW, Labarca C, Wollmann RL, Lambert EH.
Muscle Nerve.
1996;
19
(1):
79-87
-
Nicotinic acetylcholine receptor desensitization is regulated by activation-induced extracellular adenosine accumulation.
Pitchford S,
Day JW, Gordon A, Mochly-Rosen D.
J Neurosci.
1992;
12
(11):
4540-4
-
Normocalcemic tetany abolished by calcium infusion.
Day JW,
Parry GJ.
Ann Neurol.
1990;
27
(4):
438-40
-
Thunderclap headache: symptom of unruptured cerebral aneurysm.
Day JW,
Raskin NH.
Lancet.
1986;
2
(8518):
1247-8
-
Postsynaptic currents at the Mauthner fiber giant synapse of the hatchetfish.
Huse WD,
Day JW, Bennett MV.
Brain Res.
1985;
325
(1-2):
129-41
-
Time course of miniature postsynaptic potentials at the Mauthner fiber giant synapse of the hatchetfish.
Day JW,
Huse WD, Bennett MV.
Brain Res.
1985;
325
(1-2):
115-28
-
Postsynaptic depression of Mauthner cell-mediated startle reflex, a possible contributor to habituation.
Aljure E,
Day JW, Bennett MV.
Brain Res.
1980;
188
(1):
261-8
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