Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Por Donkervoort, Sandra, Dastgir, Jahannaz, Hu, Ying, Zein, Wadih, Marks, Harold, Blackstone, Craig, Bönnemann, Carsten G.
Publicado no Clin Genet (2013)

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

Por Bharucha-Goebel, Diana X., Neil, Erin, Donkervoort, Sandra, Dastgir, Jahannaz, Wiggs, Edythe, Winder, Thomas L., Moore, Steven A., Iannaccone, Susan T., Bönnemann, Carsten G.
Publicado no Neurology (2015)

Common Data Elements for Muscle Biopsy Reporting

Por Dastgir, Jahannaz, Rutkowski, Anne, Alvarez, Rachel, Cossette, Stacy A., Yan, Ke, Hoffmann, Raymond G., Sewry, Caroline, Hayashi, Yukiko K., Goebel, Hans-Hilmar, Bonnemann, Carsten, Lawlor, Michael W.
Publicado no Arch Pathol Lab Med (2015)

‘Double Trouble’: Diagnostic Challenges in Duchenne Muscular Dystrophy in Patients with an Additional Hereditary Skeletal Dysplasia

Por Donkervoort, Sandra, Schindler, Alice, Tesi-Rocha, Carolina, Schreiber, Allison, Leach, Meganne E., Dastgir, Jahannaz, Hu, Ying, Mankodi, Ami, Wagner, Kathryn R., Friedman, Neil R., Bönnemann, Carsten G.
Publicado no Neuromuscul Disord (2013)

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

Por Bharucha-Goebel, Diana Xerxes, Santi, Mariarita, Medne, Līvija, Zukosky, Kristin, Dastgir, Jahannaz, Shieh, Perry B., Winder, Thomas, Tennekoon, Gihan, Finkel, Richard S., Dowling, James J., Monnier, Nicole, Bönnemann, Carsten G.
Publicado em 2013

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

Por Butterfield, Russell J., Foley, A. Reghan, Dastgir, Jahannaz, Asman, Stephanie, Dunn, Diane M., Zou, Yaqun, Hu, Ying, Flanigan, Kevin M., Swoboda, Kathryn J., Winder, Thomas L., Weiss, Robert B., Bönnemann, Carsten G.
Publicado no Hum Mutat (2013)

Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations

Por Meilleur, Katherine G., Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L., Alsaman, Abdulaziz, El-Hattab, Ayman W., Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A., Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C., Rorke-Adams, Lucy B., Bönnemann, Carsten G.
Publicado no J Neuropathol Exp Neurol (2014)

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

Por Zukosky, Kristen, Meilleur, Katherine, Traynor, Bryan J., Dastgir, Jahannaz, Medne, Livija, Devoto, Marcella, Collins, James, Rooney, Jachinta, Zou, Yaqun, Yang, Michele L., Gibbs, J. Raphael, Meier, Markus, Stetefeld, Joerg, Finkel, Richard S., Schessl, Joachim, Elman, Lauren, Felice, Kevin, Ferguson, Toby A., Ceyhan-Birsoy, Ozge, Beggs, Alan H., Tennekoon, Gihan, Johnson, Janel O., Bönnemann, Carsten G.
Publicado no JAMA Neurol (2015)

Mosaicism for dominant collagen VI mutations as a cause for intra-familial phenotypic variability

Por Donkervoort, Sandra, Hu, Ying, Stojkovic, Tanya, Voermans, Nicol, Foley, A. Reghan, Leach, Meganne E, Dastgir, Jahannaz, Bolduc, Veronique, Cullup, Thomas, de Becdelièvre, Alix, Yang, Lin, Su, Hai, Meilleur, Katherine, Schindler, Alice B., Kamsteeg, Erik-Jan, Richard, Pascale, Butterfield, Russell, Winder, Thomas L., Crawford, Thomas, Weiss, Robert B., Muntoni, Francesco, Allamand, Valérie, Bönnemann, Carsten G.
Publicado no Hum Mutat (2015)

Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy

Por Bendixen, Roxanna M., Butrum, Jocelyn, Jain, Mina S., Parks, Rebecca, Hodsdon, Bonnie, Nichols, Carmel, Hsia, Michelle, Nelson, Leslie, Keller, Katherine C., McGuire, Michelle, Elliott, Jeffrey S., Linton, Melody M., Arveson, Irene C., Tounkara, Fatou, Vasavada, Ruhi, Harnett, Elizabeth, Punjabi, Monal, Donkervoort, Sandra, Dastgir, Jahannaz, Leach, Meganne E., Rutkowski, Anne, Waite, Melissa, Collins, James, Bönnemann, Carsten G., Meilleur, Katherine G.
Publicado no Neuromuscul Disord (2016)

NOVEL MUTATIONS WIDEN THE PHENOTYPIC SPECTRUM OF SLOW SKELETAL/β-CARDIAC MYOSIN (MYH7) DISTAL MYOPATHY

Por Lamont, Phillipa J., Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C., Bonneman, Carsten, Boycott, Kym M., Bushby, Kate, Connolly, Anne M., Davies, Nicholas, Beggs, Alan H., Cox, Gerald F., Dastgir, Jahannaz, DeChene, Elizabeth T., Gooding, Rebecca, Jungbluth, Heinz, Muelas, Nuria, Palmio, Johanna, Penttilä, Sini, Schmedding, Eric, Suominen, Tiina, Straub, Volker, Staples, Christopher, Van den Bergh, Peter Y.K., Vilchez, Juan J., Wagner, Kathryn R., Wheeler, Patricia G., Wraige, Elizabeth, Laing, Nigel G.
Publicado em 2014

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Por O’Grady, Gina L., Best, Heather A., Sztal, Tamar E., Schartner, Vanessa, Sanjuan-Vazquez, Myriam, Donkervoort, Sandra, Abath Neto, Osorio, Sutton, Roger Bryan, Ilkovski, Biljana, Romero, Norma Beatriz, Stojkovic, Tanya, Dastgir, Jahannaz, Waddell, Leigh B., Boland, Anne, Hu, Ying, Williams, Caitlin, Ruparelia, Avnika A., Maisonobe, Thierry, Peduto, Anthony J., Reddel, Stephen W., Lek, Monkol, Tukiainen, Taru, Cummings, Beryl B., Joshi, Himanshu, Nectoux, Juliette, Brammah, Susan, Deleuze, Jean-François, Ing, Viola Oorschot, Ramm, Georg, Ardicli, Didem, Nowak, Kristen J., Talim, Beril, Topaloglu, Haluk, Laing, Nigel G., North, Kathryn N., MacArthur, Daniel G., Friant, Sylvie, Clarke, Nigel F., Bryson-Richardson, Robert J., Bönnemann, Carsten G., Laporte, Jocelyn, Cooper, Sandra T.
Publicado no Am J Hum Genet (2016)