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

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

SNP Haplotype Mapping in a Small ALS Family

par 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.
Publié 2009

Cerebral and Muscle MRI Abnormalities in Myotonic Dystrophy

par 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.
Publié 2012

A focal domain of extreme demethylation within D4Z4 in FSHD2

par 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
Publié 2013

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)

par Jayakody, Himali, Zarei, Sanam, Nguyen, Huy, Dalton, Joline, Chen, Kelly, Hudgins, Louanne, Day, John, Withrow, Kara, Pandya, Arti, Teasley, Jean, Dobyns, William B, Mathews, Katherine D, Moore, Steven A
Publié dans J Neuropathol Exp Neurol (2020)

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

par 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.
Publié 2004

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

par 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.
Publié dans Cell Rep (2015)

Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort

par Flanigan, Kevin M., Dunn, Diane, von Niederhausern, Andrew, Soltanzadeh, Payam, Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda, Mendell, Jerry, Wall, Cheryl, King, Wendy, Pestronk, Alan, Florence, Julaine, Connolly, Anne, Mathews, Katherine D., Stephan, Carrie, Laubenthal, Karla, Wong, Brenda, Morehart, Paula, Meyer, Amy, Finkel, Richard, Bonnemann, Carsten G., Medne, Livija, Day, John W., Dalton, Joline C., Margolis, Marcia, Hinton, Veronica, Weiss, Robert B.
Publié 2009

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de...

par Slavotinek, Anne, Risolino, Maurizio, Losa, Marta, Cho, Megan T, Monaghan, Kristin G, Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C, Stegmann, Alexander P A, Miller, Kathryn, Shur, Natasha, Chui, Jacqueline, Muller, Eric, DeBrosse, Suzanne, Szot, Justin O, Chapman, Gavin, Pachter, Nicholas S, Winlaw, David S, Mendelsohn, Bryce A, Dalton, Joline, Sarafoglou, Kyriakie, Karachunski, Peter I, Lewis, Jane M, Pedro, Helio, Dunwoodie, Sally L, Selleri, Licia, Shieh, Joseph
Publié dans Hum Mol Genet (2017)

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

par Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.
Publié dans Genet Med (2018)

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

par Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.
Publié dans Genet Med (2018)

Motor and Cognitive Assessment of Infants and Young Boys with Duchenne Muscular Dystrophy; Results from the Muscular Dystrophy Association DMD Clinical Research Network

par Connolly, Anne M., Florence, Julaine M., Cradock, Mary M., Malkus, Elizabeth C., Schierbecker, Jeanine R., Siener, Catherine A., Wulf, Charlie O., Anand, Pallavi, Golumbek, Paul T., Zaidman, Craig M, Miller, J Philip, Lowes, Linda P, Alfano, Lindsay N., Viollet-Callendret, Laurence, Flanigan, Kevin M., Mendell, Jerry R., McDonald, Craig M., Goude, Erica, Johnson, Linda, Nicorici, Alina, Karachunski, Peter I., Day, John W., Dalton, Joline C., Farber, Janey M., Buser, Karen K., Darras, Basil T., Kang, Peter B., Riley, Susan O., Shriber, Elizabeth, Parad, Rebecca, Bushby, Kate, Eagle, Michelle
Publié 2013

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

par Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.
Publié dans Am J Hum Genet (2016)

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

par Senderek, Jan, Lassuthova, Petra, Kabzińska, Dagmara, Abreu, Lisa, Baets, Jonathan, Beetz, Christian, Braathen, Geir J., Brenner, David, Dalton, Joline, Dankwa, Lois, Deconinck, Tine, De Jonghe, Peter, Dräger, Bianca, Eggermann, Katja, Ellis, Melina, Fischer, Carina, Stojkovic, Tanya, Herrmann, David N., Horvath, Rita, Høyer, Helle, Iglseder, Stephan, Kennerson, Marina, Kinslechner, Katharina, Kohler, Jennefer N., Kurth, Ingo, Laing, Nigel G., Lamont, Phillipa J., Wolfgang N., Löscher, Ludolph, Albert, Marques, Wilson, Nicholson, Garth, Ong, Royston, Petri, Susanne, Ravenscroft, Gianina, Rebelo, Adriana, Ricci, Giulia, Rudnik-Schöneborn, Sabine, Schirmacher, Anja, Schlotter-Weigel, Beate, Schoels, Ludger, Schüle, Rebecca, Synofzik, Matthis, Francou, Bruno, Strom, Tim M., Wagner, Johannes, Walk, David, Wanschitz, Julia, Weinmann, Daniela, Weishaupt, Jochen, Wiessner, Manuela, Windhager, Reinhard, Young, Peter, Züchner, Stephan, Toegel, Stefan, Seeman, Pavel, Kochański, Andrzej, Auer-Grumbach, Michaela
Publié dans Neurology (2020)