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

von Al-Hashim, Aqeela, Gonorazky, Hernan D., Amburgey, Kimberly, Das, Soma, Dowling, James J.
Veröffentlicht in Neurol Genet (2017)

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy

von Al Amrani, Fatema, Gorodetsky, Carolina, Hazrati, Lili-Naz, Amburgey, Kimberly, Gonorazky, Hernan D., Dowling, James J.
Veröffentlicht in Neurol Genet (2020)

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

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

A natural history study of X-linked myotubular myopathy

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

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

von 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.
Veröffentlicht 2011

Approach to the diagnosis of congenital myopathies

von 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.
Veröffentlicht in Neuromuscul Disord (2013)

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

von 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.
Veröffentlicht 2013

Genotype-phenotype correlations in recessive RYR1-related myopathies

von 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
Veröffentlicht 2013

A Cross-Sectional Study of Nemaline Myopathy

von 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.
Veröffentlicht in Neurology (2021)

Consensus Statement on Standard of Care for Congenital Myopathies

von 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
Veröffentlicht in J Child Neurol (2012)

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

von 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.
Veröffentlicht in Am J Hum Genet (2019)