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Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies Guadagnin, Eleonora; Mohassel, Payam; Johnson, Kory R.; Yang, Lin; Santi, Mariarita; Uapinyoying, Prech; Dastgir, Jahannaz; Hu, Ying; Dillmann, Allissa; Cookson, Mark R.; Foley, A. Reghan; Bonnemann, Carsten G. 分享 收藏
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies Natera-de Benito, Daniel; Foley, A. Reghan; Dominguez-Gonzalez, Cristina; Ortez, Carlos; Jain, Minal; Mebrahtu, Aron; Donkervoort, Sandra; Hu, Ying; Fink, Margaret; Yun, Pomi; Ogata, Tracy; Medina, Julita; Vigo, Meritxell; Meilleur, Katherine G.; Leach, Meganne E.; Dastgir, Jahannaz; Diaz-Manera, Jordi; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Alarcon, Macarena; Cuadras, Daniel; Montiel-Morillo, Elena; Milisenda, Jose C.; Dominguez-Rubio, Raul; Olive, Montse; Colomer, Jaume; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Bonnemann, Carsten G.; Nascimento, Andres 分享 收藏
A Cross-Sectional Study of Nemaline Myopathy Amburgey, Kimberly; Acker, Meryl; Saeed, Samia; Amin, Reshma; Beggs, Alan H.; Bonnemann, 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. 分享 收藏
Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study Batra, Abhinandan; Lott, Donovan J.; Willcocks, Rebecca; Forbes, Sean C.; Triplett, William; Dastgir, Jahannaz; Yun, Pomi; Foley, A. Reghan; Bonnemann, Carsten G.; Vandenborne, Krista; Walter, Glenn A. 分享 收藏
GGPS1Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome Foley, A. Reghan; Zou, Yaqun; Dunford, James E.; Rooney, Jachinta; Chandra, Goutam; Xiong, Hui; Straub, Volker; Voit, Thomas; Romero, Norma; Donkervoort, Sandra; Hu, Ying; Markello, Thomas; Horn, Adam; Qebibo, Leila; Dastgir, Jahannaz; Meilleur, Katherine G.; Finkel, Richard S.; Fan, Yanbin; Mamchaoui, Kamel; Duguez, Stephanie; Nelson, Isabelle; Laporte, Jocelyn; Santi, Mariarita; Malfatti, Edoardo; Maisonobe, Thierry; Touraine, Philippe; Hirano, Michio; Hughes, Imelda; Bushby, Kate; Oppermann, Udo; Bohm, Johann; Jaiswal, Jyoti K.; Stojkovic, Tanya; Bonnemann, Carsten G. 分享 收藏
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies Jain, Minal S.; Meilleur, Katherine; Kim, Eunhee; Norato, Gina; Waite, Melissa; Nelson, Leslie; McGuire, Michelle; Duong, Tina; Keller, Katherine; Lott, Donovan J.; Glanzman, Allan; Rose, Kristy; Main, Marion; Fiorini, Courtney; Chrismer, Irene; Linton, Melody; Punjabi, Monal; Elliott, Jeffrey; Tounkara, Fatoumata; Vasavada, Ruhi; Logaraj, Ranjani; Winkert, Jocelyn; Donkervoort, Sandra; Leach, Meganne; Dastgir, Jahannaz; Hynan, Linda; Nichols, Carmel; Hartnett, Elizabeth; Averion, Gilberto M.; Collins, James C.; Kim, Eunice S.; Kokkinis, Angela; Schindler, Alice; Zukosky, Kristen; Fee, Robert; Hinton, Veronica; Mohassel, Payam; Bharucha-Goebel, Diana; Vuillerot, Carole; McGraw, Peter; Barton, Mark; Fontana, Joseph; Rutkowski, Anne; Foley, A. Reghan; Bonnemann, Carsten G. 分享 收藏
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation Hu, Ying; Mohassel, Payam; Donkervoort, Sandra; Yun, Pomi; Bolduc, Veronique; Ezzo, Daniel; Dastgir, Jahannaz; Marshall, Jamie L.; Lek, Monkol; MacArthur, Daniel G.; Foley, A. Reghan; Bonnemann, Carsten G. 分享 收藏
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history 由FKBP14双等位基因突变引起的17例脊柱侧凸ehlers-danlos综合征患者的队列: 临床和突变谱的扩展以及自然史的描述 Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M.; Brady, Angela F.; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S.; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y.; Morton, Jenny E. V.; Pilch, Jacek; Pollitt, Rebecca C.; Schreiber, Gudrun; Shannon, Nora L.; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S.; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F. Michael; Bonnemann, Carsten G.; Rohrbach, Marianne 分享 收藏
MRI in sarcoglycanopathies: a large international cohort study Tasca, Giorgio; Monforte, Mauro; Diaz-Manera, Jordi; Brisca, Giacomo; Semplicini, Claudio; D'Amico, Adele; Fattori, Fabiana; Pichiecchio, Anna; Berardinelli, Angela; Maggi, Lorenzo; Maccagnano, Elio; Lokken, Nicoline; Marini-Bettolo, Chiara; Munell, Francina; Sanchez, Angel; Alshaikh, Nahla; Voermans, Nicol C.; Dastgir, Jahannaz; Vlodavets, Dmitry; Haberlova, Jana; Magnano, Gianmichele; Walter, Maggie C.; Quijano-Roy, Susana; Carlier, Robert-Yves; van Engelen, Baziel G. M.; Vissing, John; Straub, Volker; Bonnemann, Carsten G.; Mercuri, Eugenio; Muntoni, Francesco; Pegoraro, Elena; Bertini, Enrico; Udd, Bjarne; Ricci, Enzo; Bruno, Claudio 分享 收藏
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye P4HA1突变导致结缔组织的独特先天性疾病，涉及肌腱，骨骼，肌肉和眼睛 Zou, Yaqun; Donkervoort, Sandra; Salo, Antti M.; Foley, A. Reghan; Barnes, Aileen M.; Hu, Ying; Makareeva, Elena; Leach, Meganne E.; Mohassel, Payam; Dastgir, Jahannaz; Deardorff, Matthew A.; Cohn, Ronald D.; DiNonno, Wendy O.; Malfait, Fransiska; Lek, Monkol; Leikin, Sergey; Marini, Joan C.; Myllyharju, Johanna; Bonnemann, Carsten G. 分享 收藏
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy 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; Boennemann, Carsten G.; Meilleur, Katherine G. 分享 收藏
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization 氧化还原酶PYROXD1的变体会导致早发性肌病，并伴有内在化的核和肌原纤维紊乱 O'Grady, Gina L.; Best, Heather A.; Sztal, Tamar E.; Schartner, Vanessa; Sanjuan-Vazquez, Tvlyriam; Donkervoort, Sandra; Neto, Osorio Abath; 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, Tam; Cummings, Beryl B.; Joshi, Himanshu; Nectoux, Juliette; Brammah, Susan; Deleuze, Jean-Francois; 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.; Bonnemann, Carsten G.; Laporte, Jocelyn; Cooper, Sandra T. 分享 收藏
TPM3 Deletions Cause a Hypercontractile Congenital Muscle Stiffness Phenotype Donkervoort, Sandra; Papadaki, Maria; de Winter, Josine M.; Neu, Matthew B.; Kirschner, Janbernd; Bolduc, Veronique; Yang, Michele L.; Gibbons, Melissa A.; Hu, Ying; Dastgir, Jahannaz; Leach, Meganne E.; Rutkowski, Anne; Foley, A. Reghan; Krueger, Marcus; Wartchow, Eric P.; McNamara, Elyshia; Ong, Royston; Nowak, Kristen J.; Laing, Nigel G.; Clarke, Nigel F.; Ottenheijm, Coen A. C.; Marston, Steven B.; Boennemann, Carsten G. 分享 收藏
Common Data Elements for Muscle Biopsy Reporting 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. 分享 收藏
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Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability Donkervoort, Sandra; Hu, Ying; Stojkovic, Tanya; Voermans, Nicol C.; Foley, A. Reghan; Leach, Meganne E.; Dastgir, Jahannaz; Bolduc, Veronique; Cullup, Thomas; de Becdelievre, Alix; Yang, Lin; Su, Hai; Meilleur, Katherine; Schindler, Alice B.; Kamsteeg, Erik-Jan; Richard, Pascale; Butterfield, Russell J.; Winder, Thomas L.; Crawford, Thomas O.; Weiss, Robert B.; Muntoni, Francesco; Allamand, Valerie; Boennemann, Carsten G. 分享 收藏
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/-Cardiac Myosin (MYH7) Distal Myopathy 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; Penttila, 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. 分享 收藏
Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused by LARGE Mutations 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.; Boennemann, Carsten G. 分享 收藏
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 Butterfield, Russell J.; Foley, A. Reghan; Dastgir, Jahannaz; Asman, Stephanie; Dunn, Diane M.; Zou, Yaqun; Hu, Ying; Donkervoort, Sandra; Flanigan, Kevin M.; Swoboda, Kathryn J.; Winder, Thomas L.; Weiss, Robert B.; Boennemann, Carsten G. 分享 收藏
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