A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy

Bằng Al-Hashim, Aqeela, Gonorazky, Hernan D., Amburgey, Kimberly, Das, Soma, Dowling, James J.
Xuất bản năm Neurol Genet (2017)

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy

Bằng Al Amrani, Fatema, Gorodetsky, Carolina, Hazrati, Lili-Naz, Amburgey, Kimberly, Gonorazky, Hernan D., Dowling, James J.
Xuất bản năm Neurol Genet (2020)

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

Bằng Alsowat, Daad, Whitney, Robyn, Hewson, Stacy, Jain, Puneet, Chan, Valerie, Kabir, Nadia, Amburgey, Kimberly, Noone, Damien, Lemaire, Mathieu, McCoy, Blathnaid, Zak, Maria
Xuất bản năm Child Neurol Open (2021)

A natural history study of X-linked myotubular myopathy

Bằng Amburgey, Kimberly, Tsuchiya, Etsuko, de Chastonay, Sabine, Glueck, Michael, Alverez, Rachel, Nguyen, Cam-Tu, Rutkowski, Anne, Hornyak, Joseph, Beggs, Alan H., Dowling, James J.
Xuất bản năm Neurology (2017)

TRPM7 Is Required within Zebrafish Sensory Neurons for the Activation of Touch-Evoked Escape Behaviors

Bằng Low, Sean E., Amburgey, Kimberly, Horstick, Eric, Linsley, Jeremy, Sprague, Shawn M., Cui, Wilson W., Zhou, Weibin, Hirata, Hiromi, Saint-Amant, Louis, Hume, Richard I., Kuwada, John Y.
Được phát hành 2011

Approach to the diagnosis of congenital myopathies

Bằng North, Kathryn N., Wang, Ching H., Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J., Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H., Sewry, Caroline, Laing, Nigel G., Bönnemann, Carsten G.
Xuất bản năm Neuromuscul Disord (2013)

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

Bằng Clarke, Nigel F., Amburgey, Kimberly, Teener, James, Camelo-Piragua, Sandra, Kesari, Akanchha, Punetha, Jaya, Waddell, Leigh B., Davis, Mark, Laing, Nigel G., Monnier, Nicole, North, Kathryn N., Hoffman, Eric P., Dowling, James J.
Được phát hành 2013

Genotype-phenotype correlations in recessive RYR1-related myopathies

Bằng Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J
Được phát hành 2013

A Cross-Sectional Study of Nemaline Myopathy

Bằng Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., Dowling, James J.
Xuất bản năm Neurology (2021)

Consensus Statement on Standard of Care for Congenital Myopathies

Bằng Wang, Ching H., Dowling, James J., North, Kathryn, Schroth, Mary K., Sejersen, Thomas, Shapiro, Frederic, Bellini, Jonathan, Weiss, Hali, Guillet, Marc, Amburgey, Kimberly, Apkon, Susan, Bertini, Enrico, Bonnemann, Carsten, Clarke, Nigel, Connolly, Anne M., Estournet-Mathiaud, Brigitte, Fitzgerald, Dominic, Florence, Julaine M., Gee, Richard, Gurgel-Giannetti, Juliana, Glanzman, Allan M., Hofmeister, Brittany, Jungbluth, Heinz, Koumbourlis, Anastassios C., Laing, Nigel G., Main, Marion, Morrison, Leslie A., Munns, Craig, Rose, Kristy, Schuler, Pamela M., Sewry, Caroline, Storhaug, Kari, Vainzof, Mariz, Yuan, Nanci
Xuất bản năm J Child Neurol (2012)

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Bằng O’Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Demurger, Florence, Dowling, James J., Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F., Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Heide, Solveig, Helbig, Katherine L., Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R., Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y., Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M., Maegawa, Gustavo H.B., Marcelis, Carlo L.M., Mark, Paul R., Masruha, Marcelo R., McLaughlin, Heather M., McWalter, Kirsty, Melchinger, Esther U., Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L.P., Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A., van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G., Wentzensen, Ingrid M., Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H.
Xuất bản năm Am J Hum Genet (2019)