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Heart Transplantation in Children with Mitochondrial Disease Weiner, Jeffrey G.; Lambed, Andrea N.; Thurm, Cary; Hall, Matt; Soslow, Jonathan H.; Reimschisel, Tyler E.; Bearl, David W.; Dodd, Debra A.; Feingold, Brian; Godown, Justin Share Save
Management of ophthalmologic manifestations of mitochondrial diseases Response Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H.; Dimmock, David; Enns, Gregory M.; Falk, Marni J.; Feigenbaum, Annette; Frye, Richard E.; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C.; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P.; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W.; Sue, Carolyn M.; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A.; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F. Share Save
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H.; Dimmock, David; Enns, Gregory M.; Falk, Marni J.; Feigenbaum, Annette; Frye, Richard E.; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C.; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P.; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W.; Sue, Carolyn M.; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A.; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F. Share Save
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia Thi Tuyet Mai Nguyen; Murakami, Yoshiko; Sheridan, Eamonn; Ehresmann, Sophie; Rousseau, Justine; St-Denis, Anik; Chai, Guoliang; Ajeawung, Norbert F.; Fairbrother, Laura; Reimschisel, Tyler; Bateman, Alexandra; Berry-Kravis, Elizabeth; Xia, Fan; Tardif, Jessica; Parry, David A.; Logan, Clare V.; Diggle, Christine; Bennett, Christopher P.; Hattingh, Louise; Rosenfeld, Jill A.; Perry, Michael Scott; Parker, Michael J.; Le Deist, Francoise; Zaki, Maha S.; Ignatius, Erika; Isohanni, Pirjo; Lonnqvist, Tuula; Carroll, Christopher J.; Johnson, Colin A.; Gleeson, Joseph G.; Kinoshita, Taroh; Campeau, Philippe M. Share Save
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Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges Parikh, Sumit; Goldstein, Amy; Koenig, Mary Kay; Scaglia, Fernando; Enns, Gregory M.; Saneto, Russell; Anselm, Irina; Collins, Abigail; Cohen, Bruce H.; DeBrosse, Suzanne D.; Dimmock, David; Falk, Marni J.; Ganesh, Jaya; Greene, Carol; Gropman, Andrea L.; Haas, Richard; Kahler, Stephen G.; Kamholz, John; Kendall, Fran; Korson, Mark S.; Mattman, Andre; Milone, Margherita; Niyazov, Dmitriy; Pearl, Phillip L.; Reimschisel, Tyler; Salvarinova-Zivkovic, Ramona; Sims, Katherine; Tarnopolsky, Mark; Tsao, Chang-Yong; van Hove, Johan; Walsh, Laurence; Wolfe, Lynne A. Share Save
Comprehensive Assessment of Serious Adverse Events Following Immunization by Health Care Providers Williams, S. Elizabeth; Edwards, Kathryn M.; Baxter, Roger P.; LaRussa, Philip S.; Halsey, Neal A.; Dekker, Cornelia L.; Vellozzi, Claudia; Marchant, Colin D.; Donofrio, Peter D.; Reimschisel, Tyler E.; Berger, Melvin; Gidudu, Jane F.; Klein, Nicola P. Share Save
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A Campbell, Ian M.; Yatsenko, Svetlana A.; Hixson, Patricia; Reimschisel, Tyler; Thomas, Matthew; Wilson, William; Dayal, Usha; Wheless, James W.; Crunk, Amy; Curry, Cynthia; Parkinson, Nicole; Fishman, Leona; Riviello, James J.; Nowaczyk, Malgorzata J. M.; Zeesman, Susan; Rosenfeld, Jill A.; Bejjani, Bassem A.; Shaffer, Lisa G.; Cheung, Sau Wai; Lupski, James R.; Stankiewicz, Pawel; Scaglia, Fernando Share Save
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148 Dharmadhikari, Avinash V.; Kang, Sung-Hae L.; Szafranski, Przemyslaw; Person, Richard E.; Sampath, Srirangan; Prakash, Siddharth K.; Bader, Patricia I.; Phillips, John A., III; Hannig, Vickie; Williams, Misti; Vinson, Sherry S.; Wilfong, Angus A.; Reimschisel, Tyler E.; Craigen, William J.; Patel, Ankita; Bi, Weimin; Lupski, James R.; Belmont, John; Cheung, Sau Wai; Stankiewicz, Pawel Share Save
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females Bartnik, Magdalena; Derwinska, Katarzyna; Gos, Monika; Obersztyn, Ewa; Kolodziejska, Katarzyna E.; Erez, Ayelet; Szpecht-Potocka, Agnieszka; Fang, Ping; Terczynska, Iwona; Mierzewska, Hanna; Lohr, Naomi J.; Bellus, Gary A.; Reimschisel, Tyler; Bocian, Ewa; Mazurczak, Tadeusz; Cheung, Sau Wai; Stankiewicz, Pawel Share Save
Phenotypic manifestations of copy number variation in chromosome 16p13.11 Nagamani, Sandesh C. Sreenath; Erez, Ayelet; Bader, Patricia; Lalani, Seema R.; Scott, Daryl A.; Scaglia, Fernando; Plon, Sharon E.; Tsai, Chun-Hui; Reimschisel, Tyler; Roeder, Elizabeth; Malphrus, Amy D.; Eng, Patricia A.; Hixson, Patricia M.; Kang, Sung-Hae L.; Stankiewicz, Pawel; Patel, Ankita; Cheung, Sau Wai Share Save
Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH Boone, Philip M.; Bacino, Carlos A.; Shaw, Chad A.; Eng, Patricia A.; Hixson, Patricia M.; Pursley, Amber N.; Kang, Sung-Hae L.; Yang, Yaping; Wiszniewska, Joanna; Nowakowska, Beata A.; del Gaudio, Daniela; Xia, Zhilian; Simpson-Patel, Gayle; Immken, LaDonna L.; Gibson, James B.; Tsai, Anne C. -H.; Bowers, Jennifer A.; Reimschisel, Tyler E.; Schaaf, Christian P.; Potocki, Lorraine; Scaglia, Fernando; Gambin, Tomasz; Sykulski, Maciej; Bartnik, Magdalena; Derwinska, Katarzyna; Wisniowiecka-Kowalnik, Barbara; Lalani, Seema R.; Probst, Frank J.; Bi, Weimin; Beaudet, Arthur L.; Patel, Ankita; Lupski, James R.; Cheung, Sau Wai; Stankiewicz, Pawel Share Save
Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease Schiffmann, Raphael; Martin, Rick A.; Reimschisel, Tyler; Johnson, Karen; Castaneda, Victoria; Lien, Y. Howard; Pastores, Gregory M.; Kampmann, Christoph; Ries, Markus; Clarke, Joe T. R. Share Save
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH Shchelochkov, Oleg A.; Li, Fang-Yuan; Geraghty, Michael T.; Gallagher, Renata C.; Van Hove, Johan L.; Lichter-Konecki, Uta; Fernhoff, Paul M.; Copeland, Sara; Reimschisel, Tyler; Cederbaum, Stephen; Lee, Brendan; Chinault, A. Craig; Wong, Lee-Jun Share Save
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities Brunetti-Pierri, Nicola; Berg, Jonathan S.; Scaglia, Fernando; Belmont, John; Bacino, Carlos A.; Sahoo, Trilochan; Lalani, Seema R.; Graham, Brett; Lee, Brendan; Shinawi, Marwan; Shen, Joseph; Kang, Sung-Hae L.; Pursley, Amber; Lotze, Timothy; Kennedy, Gail; Lansky-Shafer, Susan; Weaver, Christine; Roeder, Elizabeth R.; Grebe, Theresa A.; Arnold, Georgianne L.; Hutchison, Terry; Reimschisel, Tyler; Amato, Stephen; Geragthy, Michael T.; Innis, Jeffrey W.; Obersztyn, Ewa; Nowakowska, Beata; Rosengren, Sally S.; Bader, Patricia I.; Grange, Dorothy K.; Naqvi, Sayed; Garnica, Adolfo D.; Bernes, Saunder M.; Fong, Chin-To; Summers, Anne; Walters, W. David; Lupski, James R.; Stankiewicz, Pawel; Cheung, Sau Wai; Patel, Ankita Share Save
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