Dr. John W Day MD

Publications

• JW DayUnited Dystrophinopathy Project. LTBP4 genotype predicts age of ambulatory loss0
• TURE CELL BIOLOGYRole of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy2013
• Neuromuscular disordersMotor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy2013
• JOURL OF NEUROLOGYDiffusion tensor imaging reveals widespread white matter abnormalities in children2013
• Jourl of neurologyDiagnostic odyssey of patients with myotonic dystrophy.0
• NEUROLOGYA focal domain of extreme demethylation within D4Z4 in FSHD22013
• NEUROMUSCULAR DISORDERSCerebral and muscle MRI abnormalities in myotonic dystrophy2012
• Handbook of clinical neurologyClinical and genetic features of spinocerebellar ataxia type 8.2012
• Handbook of clinical neurologySpinocerebellar ataxia type 5.2012
• Anls of neurologyLTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy.0
• Blonsky, K., Monckton, D., Wieringa, B., Schoser, B., Day, J. W., Enge2010 Marigold therapeutic strategies for myotonic dystrophy.2012
• NEUROLOGYRandomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy2011
• TURE STRUCTURAL & MOLECULAR BIOLOGYMisregulation of miR-1 processing is associated with heart defects in myotonic dystrophy2011
• HUMAN MUTATIONNonsense Mutation-Associated Becker Muscular Dystrophy2011
• NEUROMUSCULAR DISORDERSWhite matter abnormalities and neurocognitive correlates2011
• MUSCLE & NERVETRAUMA, TDP-43, AND AMYOTROPHIC LATERAL SCLEROSIS2010
• EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITYTargeting parents for the treatment of pediatric obesity in boys with Duchenne muscular dystrophy2010
• HUMAN MUTATIONMutatiol Spectrum of DMD Mutations in Dystrophinopathy Patients2009
• PLOS ONESNP Haplotype Mapping in a Small ALS Family2009
• NEUROLOGYCongenital muscular dystrophy in a new age2008
• NEUROGENETICSMyotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families2008
• JOURL OF MEDICAL GENETICSHeterozygosity for a protein truncation mutation of sodium channel SCN8A2006
• HUMAN MOLECULAR GENETICSDM2 intronic expansions2006
• TURE GENETICSSpectrin mutations cause spinocerebellar ataxia type 52006
• Human geneticsGene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520.2006
• Genome dymicsDomint non-coding repeat expansions in human disease.2006
• Current neurology and neuroscience reportsGenetics and molecular pathogenesis of the myotonic dystrophies.2005
• NEUROMUSCULAR DISORDERSR pathogenesis of the myotonic dystrophies2005
• NEUROLOGYSudden cardiac death in myotonic dystrophy type 22004
• AMERICAN JOURL OF HUMAN GENETICSSpinocerebellar ataxia type 82004
• AMERICAN JOURL OF HUMAN GENETICSMyotonic dystrophy: R pathogenesis comes into focus2004
• NEUROLOGYRapid resolution of quadriplegic CIDP by combined plasmapheresis and IVIg2004
• AMERICAN JOURL OF HUMAN GENETICSMyotonic dystrophy type 2: Human founder haplotype and evolutiory conservation of the repeat tract2003
• NEUROLOGYAutoimmune rippling muscle2003
• NEUROLOGYMyotonic dystrophy type 2 - Molecular, diagnostic and clinical spectrum2003
• CYTOGENETIC AND GENOME RESEARCHMolecular genetics of spinocerebellar ataxia type 8 (SCA8)2003
• MUSCLE & NERVERandomized, controlled trial of intravenous immunoglobulin in myasthenia gravis2002
• Current neurology and neuroscience reportsMyotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.2002
• MAYO CLINIC PROCEEDINGSForce assessment in periodic paralysis after electrical muscle stimulation2002
• SCIENCEMyotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF92001
• TRANSFUSIONClinical illness due to parvovirus B19 infection after infusion of solvent2000
• NEUROLOGYSpinocerebellar ataxia type 8 - Clinical features in a large family2000
• HUMAN MOLECULAR GENETICSSCA8 CTG repeat: en masse contractions in sperm and intergeneratiol sequence changes may play a2000
• NEUROMUSCULAR DISORDERSClinical and genetic characteristics of a five1999
• TURE GENETICSGenetic mapping of a second myotonic dystrophy locus1998
• Anls of the New York Academy of SciencesGenetic manipulation of AChR responses suggests multiple causes of weakness in slow1998
• TURE GENETICSRapid cloning of expanded trinucleotide repeat sequences from genomic D1998
• SYPSEDesensitization of mutant acetylcholine receptors1997
• JOURL OF NEUROSCIENCESlow-channel transgenic mice1997
• JOURL OF MEDICAL ENGINEERING & TECHNOLOGYAn improved method for muscle force neuromuscular disease assessment1996
• MUSCLE & NERVETransgenic mouse model of the slow-channel syndrome1996
• JOURL OF NEUROSCIENCENICOTINIC ACETYLCHOLINE-RECEPTOR DESENSITIZATION IS REGULATED BY ACTIVATION1992
• ANLS OF NEUROLOGYNORMOCALCEMIC TETANY ABOLISHED BY CALCIUM INFUSION1990
• LANCETTHUNDERCLAP HEADACHE - SYMPTOM OF UNRUPTURED CEREBRAL ANEURYSM1986
• BRAIN RESEARCHTIME COURSE OF MINIATURE POSTSYPTIC POTENTIALS AT THE MAUTHNER FIBER GIANT SYPSE OF THE HATCHETFISH1985
• BRAIN RESEARCHPOSTSYPTIC CURRENTS AT THE MAUTHNER FIBER GIANT SYPSE OF THE HATCHETFISH1985
• BRAIN RESEARCHPOSTSYPTIC DEPRESSION OF MAUTHNER CELL-MEDIATED STARTLE REFLEX1980

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