Synaptonemal Complexes during Premeiotic DNA Synthesis in Oocytes of DROSOPHILA MELANOGASTER

di Day, John W., Grell, Rhoda F.
Pubblicazione 1976

Myotonic Dystrophy: RNA Pathogenesis Comes into Focus

di Ranum, Laura P. W., Day, John W.
Pubblicazione 2004

Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy

di Turan, Soeren, Farruggio, Alfonso P, Srifa, Waracharee, Day, John W, Calos, Michele P
Pubblicato in Mol Ther (2016)

Humanizing the mdx mouse model of DMD: the long and the short of it

di Yucel, Nora, Chang, Alex C., Day, John W., Rosenthal, Nadia, Blau, Helen M.
Pubblicato in NPJ Regen Med (2018)

Charcot Marie Tooth disease type 4J with complex central nervous system features

di Orengo, James P., Khemani, Pravin, Day, John W., Li, Jun, Siskind, Carly E.
Pubblicato in Ann Clin Transl Neurol (2018)

Author Correction: Humanizing the mdx mouse model of DMD: the long and the short of it

di Yucel, Nora, Chang, Alex C., Day, John W., Rosenthal, Nadia, Blau, Helen M.
Pubblicato in NPJ Regen Med (2020)

Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1

di Wozniak, Jeffrey R., Mueller, Bryon A., Lim, Kelvin O., Hemmy, Laura S., Day, John W.
Pubblicazione 2014

White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: A diffusion tensor imaging study

di Wozniak, Jeffrey R., Mueller, Bryon A., Ward, Erin E., Lim, Kelvin O., Day, John W.
Pubblicazione 2010

Congenital Muscular Dystrophy and Generalized Epilepsy Caused by GMPPB Mutations

di Raphael, Alya R., Couthouis, Julien, Sakamuri, Sarada, Siskind, Carly, Vogel, Hannes, Day, John W., Gitler, Aaron D.
Pubblicazione 2014

Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1

di Wozniak, Jeffrey R., Mueller, Bryon A., Bell, Christopher J., Muetzel, Ryan L., Lim, Kelvin O., Day, John W.
Pubblicazione 2012

Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec

di Day, John W., Finkel, Richard S., Mercuri, Eugenio, Swoboda, Kathryn J., Menier, Melissa, van Olden, Rudolf, Tauscher-Wisniewski, Sitra, Mendell, Jerry R.
Pubblicato in Mol Ther Methods Clin Dev (2021)

Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract

di Liquori, Christina L., Ikeda, Yoshio, Weatherspoon, Marcy, Ricker, Kenneth, Schoser, Benedikt G. H., Dalton, Joline C., Day, John W., Ranum, Laura P. W.
Pubblicazione 2003

Slow-Channel Transgenic Mice: A Model of Postsynaptic Organellar Degeneration at the Neuromuscular Junction

di Gomez, Christopher M., Maselli, Ricardo, Gundeck, Jo Ellen, Chao, Mary, Day, John W., Tamamizu, Shiori, Lasalde, Jose A., McNamee, Mark, Wollmann, Robert L.
Pubblicato in J Neurosci (1997)

Diagnostic Odyssey of Patients with Myotonic Dystrophy

di Hilbert, James E., Ashizawa, Tetsuo, Day, John W., Luebbe, Elizabeth A., Martens, William B., McDermott, Michael P., Tawil, Rabi, Thornton, Charles A., Moxley, Richard T.
Pubblicazione 2013

Exome Sequencing Identifies a DNAJB6 Mutation in a Family with Dominantly-Inherited Limb-Girdle Muscular Dystrophy

di Couthouis, Julien, Raphael, Alya R., Siskind, Carly, Findlay, Andrew R., Buenrostro, Jason D., Greenleaf, William J., Vogel, Hannes, Day, John W., Flanigan, Kevin M., Gitler, Aaron D.
Pubblicazione 2014

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

di Sullivan, Jeremy M., Zimanyi, Christina M., Aisenberg, William, Bears, Breanne, Chen, Dong-Hui, Day, John W., Bird, Thomas D., Siskind, Carly E., Gaudet, Rachelle, Sumner, Charlotte J.
Pubblicato in Neurol Genet (2015)

SNP Haplotype Mapping in a Small ALS Family

di Krueger, Katherine A. Dick, Tsuji, Shoji, Fukuda, Yoko, Takahashi, Yuji, Goto, Jun, Mitsui, Jun, Ishiura, Hiroyuki, Dalton, Joline C., Miller, Michael B., Day, John W., Ranum, Laura P. W.
Pubblicazione 2009

Cerebral and Muscle MRI Abnormalities in Myotonic Dystrophy

di Franc, Daniel T., Muetzel, Ryan L., Robinson, Paul R., Rodriguez, Craig P., Dalton, Joline C., Naughton, Cameron E., Mueller, Bryon A., Wozniak, Jeffrey R., Lim, Kelvin O., Day, John W.
Pubblicazione 2012

A focal domain of extreme demethylation within D4Z4 in FSHD2

di Hartweck, Lynn M., Anderson, Lindsey J., Lemmers, Richard J., Dandapat, Abhijit, Toso, Erik A., Dalton, Joline C., Tawil, Rabi, Day, John W., van der Maarel, Silvère M., Kyba, Michael
Pubblicazione 2013

Role of Telomere Dysfunction in Cardiac Failure in Duchenne Muscular Dystrophy

di Mourkioti, Foteini, Kustan, Jackie, Kraft, Peggy, Day, John W., Zhao, Ming-Ming, Kost-Alimova, Maria, Protopopov, Alexei, DePinho, Ronald A., Bernstein, Daniel, Meeker, Alan K., Blau, Helen M.
Pubblicazione 2013