Synaptonemal Complexes during Premeiotic DNA Synthesis in Oocytes of DROSOPHILA MELANOGASTER

Por Day, John W., Grell, Rhoda F.
Publicado em 1976

Myotonic Dystrophy: RNA Pathogenesis Comes into Focus

Por Ranum, Laura P. W., Day, John W.
Publicado em 2004

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

Por Turan, Soeren, Farruggio, Alfonso P, Srifa, Waracharee, Day, John W, Calos, Michele P
Publicado no Mol Ther (2016)

Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1

Por Wozniak, Jeffrey R., Mueller, Bryon A., Lim, Kelvin O., Hemmy, Laura S., Day, John W.
Publicado em 2014

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

Por Wozniak, Jeffrey R., Mueller, Bryon A., Ward, Erin E., Lim, Kelvin O., Day, John W.
Publicado em 2010

Congenital Muscular Dystrophy and Generalized Epilepsy Caused by GMPPB Mutations

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

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

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

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

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

Diagnostic Odyssey of Patients with Myotonic Dystrophy

Por 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.
Publicado em 2013

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

Por 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.
Publicado em 2014

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

Por 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.
Publicado no Neurol Genet (2015)

SNP Haplotype Mapping in a Small ALS Family

Por 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.
Publicado em 2009

Cerebral and Muscle MRI Abnormalities in Myotonic Dystrophy

Por 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.
Publicado em 2012

A focal domain of extreme demethylation within D4Z4 in FSHD2

Por 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
Publicado em 2013

Role of Telomere Dysfunction in Cardiac Failure in Duchenne Muscular Dystrophy

Por 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.
Publicado em 2013

CLINICAL FOLLOW-UP FOR DUCHENNE MUSCULAR DYSTROPHY NEWBORN SCREENING: A PROPOSAL

Por KWON, JENNIFER M., ABDEL-HAMID, HODA Z., AL-ZAIDY, SAMIAH A., MENDELL, JERRY R., KENNEDY, ANNIE, KINNETT, KATHI, CWIK, VALERIE A., STREET, NATALIE, BOLEN, JULIE, DAY, JOHN W., CONNOLLY, ANNE M.
Publicado no Muscle Nerve (2016)

Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisonsand Haplotype Analysis of 37 Families with Ataxia

Por Ikeda, Yoshio, Dalton, Joline C., Moseley, Melinda L., Gardner, Kathy L., Bird, Thomas D., Ashizawa, Tetsuo, Seltzer, William K., Pandolfo, Massimo, Milunsky, Aubrey, Potter, Nicholas T., Shoji, Mikio, Vincent, John B., Day, John W., Ranum, Laura P. W.
Publicado em 2004

MBNL Sequestration by Toxic RNAs and RNA Mis-Processing in the Myotonic Dystrophy Brain

Por Goodwin, Marianne, Mohan, Apoorva, Batra, Ranjan, Lee, Kuang-Yung, Charizanis, Konstantinos, Gómez, Francisco José Fernández, Eddarkaoui, Sabiha, Sergeant, Nicolas, Buée, Luc, Kimura, Takashi, Clark, H. Brent, Dalton, Joline, Takamura, Kenji, Weyn-Vanhentenryck, Sebastien, Zhang, Chaolin, Reid, Tammy, Ranum, Laura P.W., Day, John W., Swanson, Maurice S.
Publicado no Cell Rep (2015)

LTBP4 genotype predicts age of ambulatory loss in Duchenne Muscular Dystrophy

Por Flanigan, Kevin M., Ceco, Ermelinda, Lamar, Kay-Marie, Kaminoh, Yuuki, Dunn, Diane M., Mendell, Jerry R., King, Wendy M., Pestronk, Alan, Florence, Julaine M., Mathews, Katherine D., Finkel, Richard S., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Day, John W., McDonald, Craig, McNally, Elizabeth M., Weiss, Robert B.
Publicado em 2013

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45

Por Findlay, Andrew R., Wein, Nicolas, Kaminoh, Yuuki, Taylor, Laura E., Dunn, Diane M., Mendell, Jerry R., King, Wendy M., Pestronk, Alan, Florence, Julaine M., Mathews, Katherine D., Finkel, Richard S., Swoboda, Kathryn J., Howard, Michael T., Day, John W., McDonald, Craig, Nicolas, Aurélie, Le Rumeur, Elisabeth, Weiss, Robert B., Flanigan, Kevin M.
Publicado no Ann Neurol (2015)