Publications

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.
Sullivan JM, Zimanyi CM, Aisenberg W, Bears B, Chen DH, Day JW, Bird TD, Siskind CE, Gaudet R, Sumner CJ. Neurol Genet. 2015 Oct 22;1(4):e29. doi: 10.1212/NXG.0000000000000029. eCollection 2015 Dec. PMID:27066566

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.
Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee KY, Swanson MS, Lopez de Munain A, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N.Nat Commun. 2016 Apr 11;7:11067. doi: 10.1038/ncomms11067. PMID: 27063795

Clinical trial readiness in non-ambulatory boys and men with DMD: MDA-DMD network follow-up.
Connolly AM, Florence JM, Zaidman CM, Golumbek PT, Mendell JR, Flanigan KM, Karachunski PI, Day JW, McDonald CM, Darras BT, Kang PB, Siener CA, Gadeken RK, Anand P, Schierbecker JR, Malkus EC, Lowes LP, Alfano LN, Johnson L, Nicorici A, Kelecic JM, Quigley J, Pasternak AE, Miller JP; MDA DMD Clinical Research Network. Muscle Nerve. 2016 Mar 1. doi: 10.1002/mus.25089. [Epub ahead of print] PMID:26930423

Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.
Turan S, Farruggio AP, Srifa W, Day JW, Calos MP. Mol Ther. 2016 Apr;24(4):685-96. doi: 10.1038/mt.2016.40. Epub 2016 Feb 26.PMID:26916285

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25. PMID:26310628

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain.
Goodwin M, Mohan A, Batra R, Lee KY, Charizanis K, Fernández Gómez FJ, Eddarkaoui S, Sergeant N, Buée L, Kimura T, Clark HB, Dalton J, Takamura K, Weyn-Vanhentenryck SM, Zhang C, Reid T, Ranum LP, Day JW, Swanson MS. Cell Rep. 2015 Aug 18;12(7):1159-68. doi: 10.1016/j.celrep.2015.07.029. Epub 2015 Aug 6.PMID:26257173

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.
Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, Nicolas A, Le Rumeur E, Weiss RB, Flanigan KM; United Dystrophinopathy Project.
Ann Neurol. 2015 Apr;77(4):668-74. doi: 10.1002/ana.24365. Epub 2015 Mar 2.
PMID: 25612243

Outcome reliability in non-Ambulatory Boys/Men with duchenne muscular dystrophy.
Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, Siener CA, Golumbek PT, Zaidman CM, Mcdonald CM, Johnson L, Nicorici A, Karachunski PI, Day JW, Kelecic JM, Lowes LP, Alfano LN, Darras BT, Kang PB, Quigley J, Pasternak AE, Florence JM; MDA DMD Clinical Research Network.
Muscle Nerve. 2015 Apr;51(4):522-32. doi: 10.1002/mus.24346. Epub 2015 Feb 11.
PMID: 25056178

Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332.

One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development.
Connolly AM, Florence JM, Cradock MM, Eagle M, Flanigan KM, McDonald CM, Karachunski PI, Darras BT, Bushby K, Malkus EC, Golumbek PT, Zaidman CM, Miller JP, Mendell JR; MDA DMD Clinical Research Network.
Pediatr Neurol. 2014 Jun;50(6):557-63. doi: 10.1016/j.pediatrneurol.2014.02.006. Epub 2014 Feb 15.

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Raphael AR, Couthouis J, Sakamuri S, Siskind C, Vogel H, Day JW, Gitler AD.
Brain Res. 2014 Aug 5;1575:66-71. doi: 10.1016/j.brainres.2014.04.028. Epub 2014 Apr 26.

Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1.
Wozniak JR, Mueller BA, Lim KO, Hemmy LS, Day JW.
J Neurol Sci. 2014 Jun 15;341(1-2):73-8. doi: 10.1016/j.jns.2014.04.005. Epub 2014 Apr 13.

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
Couthouis J, Raphael AR, Siskind C, Findlay AR, Buenrostro JD, Greenleaf WJ, Vogel H, Day JW, Flanigan KM, Gitler AD.
Neuromuscul Disord. 2014 May;24(5):431-5. doi: 10.1016/j.nmd.2014.01.014. Epub 2014 Feb 10.

Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy.
Mourkioti F, Kustan J, Kraft P, Day JW, Zhao MM, Kost-Alimova M, Protopopov A, Depinho RA, Bernstein D, Meeker AK, Blau HM. Nat Cell Biol. 2013

Diagnostic odyssey of patients with myotonic dystrophy.
Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT. J Neurol. 2013

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.
Connolly AM, Florence JM, Cradock MM, Malkus EC, Schierbecker JR, Siener CA, Wulf CO, Anand P, Golumbek PT, Zaidman CM, Philip Miller J, Lowes LP, Alfano LN, Viollet-Callendret L, Flanigan KM, Mendell JR, McDonald CM, Goude E, Johnson L, Nicorici A, Karachunski PI, Day JW, Dalton JC, Farber JM, Buser KK, Darras BT, Kang PB, Riley SO, Shriber E, Parad R, Bushby K, Eagle M. Neuromuscul Disord. 2013; 23 (7): 529-39

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)

A focal domain of extreme demethylation within D4Z4 in FSHD2.
Hartweck LM, Anderson LJ, Lemmers RJ, Dandapat A, Toso EA, Dalton JC, Tawil R, Day JW, van der Maarel SM, Kyba M. Neurology. 2013; 80 (4): 392-9

Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1.
Wozniak JR, Mueller BA, Bell CJ, Muetzel RL, Lim KO, Day JW. J Neurol. 2013; 260 (4): 1122-31

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 Jun;22(6):483-91. doi: 10.1016/j.nmd.2012.01.003. Epub 2012 Jan 30. PubMed PMID: 22290140

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
JW Day, Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. (21972111)

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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