• Brief Report A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy 

      Hara, Yuji; Balci-Hayta, Burcu; Yoshida-Moriguchi, Takako; Kanagawa, Motoi; de Bernabe, Daniel Beltran-Valero; Gundesli, Hulya; Willer, Tobias; Satz, Jakob S.; Crawford, Robert W.; Burden, Steven J.; Kunz, Stefan; Oldstone, Michael B. A.; Accardi, Alessio; Talim, Beril; Muntoni, Francesco; Topaloglu, Haluk; Dincer, Pervin; Campbell, Kevin P. (Massachusetts Medical Soc, 2011)
      Dystroglycan, which serves as a major extracellular matrix receptor in muscle and the central nervous system, requires extensive O-glycosylation to function. We identified a dystroglycan missense mutation (Thr192. Met) in ...
    • Canakinumab For the Treatment of Autoinflammatory Recurrent Fever Syndromes 

      De Benedetti, Fabrizio; Gattorno, Marco; Anton, Jordi; Ben-Chetrit, Eldad; Frenkel, Joost; Hoffman, Hofman M.; Kone-Paut, Isabelle; Lachmann, Helen J.; Ozen, Seza; Simon, Anna; Zeft, Andrew; Penades, Inmaculada Calvo; Moutschen, M.; Quartier, P.; Kasapcopur, O.; Shcherbina, A.; Hofer, M.; Hashkes, P. J.; Van der Hilst, J.; Hara, R.; Bujan-Rivas, S.; Constantin, T.; Gul, A.; Livneh, A.; Brogan, P.; Cattalini, M.; Obici, L.; Lheritier, K.; Speziale, A.; Junge, G. (Massachusetts Medical Soc, 2018)
      BACKGROUND Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyper-immunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic ...
    • Cortical-Bone Fragility - Insights From Sfrp4 Deficiency In Pyle'S Disease 

      Kiper, Pelin O. Simsek; Saito, Hiroaki; Gori, Francesca; Unger, Sheila; Hesse, Eric; Yamana, Kei; Kiviranta, Riku; Solban, Nicolas; Liu, Jeff; Brommage, Robert; Boduroglu, Koray; Bonafe, Luisa; Campos-Xavier, Belinda; Dikoglu, Esra; Eastell, Richard; Gossiel, Fatma; Harshman, Keith; Nishimura, Gen; Girisha, Katta M.; Stevenson, Brian J.; Takita, Hiroyuki; Rivolta, Carlo; Superti-Furga, Andrea; Baron, Roland (Massachusetts Medical Soc, 2016)
      BACKGROUND Cortical-bone fragility is a common feature in osteoporosis that is linked to non-vertebral fractures. Regulation of cortical-bone homeostasis has proved elusive. The study of genetic disorders of the skeleton ...
    • Early- Onset Stroke and Vasculopathy Associated With Mutations in Ada2 

      Zhou, Qing; Yang, Dan; Ombrello, Amanda K.; Zavialov, Andrey V.; Toro, Camilo; Zavialov, Anton V.; Stone, Deborah L.; Chae, Jae Jin; Rosenzweig, Sergio D.; Bishop, Kevin; Barron, Karyl S.; Kuehn, Hye Sun; Hoffmann, Patrycja; Negro, Alejandra; Tsai, Wanxia L.; Cowen, Edward W.; Pei, Wuhong; Milner, Joshua D.; Silvin, Christopher; Heller, Theo; Chin, David T.; Patronas, Nicholas J.; Barber, John S.; Lee, Chyi-Chia R.; Wood, Geryl M.; Ling, Alexander; Kelly, Susan J.; Kleiner, David E.; Mullikin, James C.; Ganson, Nancy J.; Kong, Heidi H.; Hambleton, Sophie; Candotti, Fabio; Quezado, Martha M.; Calvo, Katherine R.; Alao, Hawwa; Barham, Beverly K.; Jones, Anne; Meschia, James F.; Worrall, Bradford B.; Kasner, Scott E.; Rich, Stephen S.; Goldbach-Mansky, Raphaela; Abinun, Mario; Chalom, Elizabeth; Gotte, Alisa C.; Punaro, Marilynn; Pascual, Virginia; Verbsky, James W.; Torgerson, Troy R.; Singer, Nora G.; Gershon, Timothy R.; Ozen, Seza; Karadag, Omer; Fleisher, Thomas A.; Remmers, Elaine F.; Burgess, Shawn M.; Moir, Susan L.; Gadina, Massimo; Sood, Raman; Hershfield, Michael S.; Boehm, Manfred; Kastner, Daniel L.; Aksentijevich, Ivona (Massachusetts Medical Soc, 2014)
      BackgroundWe observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We ...
    • Myo1E Mutations And Childhood Familial Focal Segmental Glomerulosclerosis 

      Mele, Caterina; Iatropoulos, Paraskevas; Donadelli, Roberta; Calabria, Andrea; Maranta, Ramona; Cassis, Paola; Buelli, Simona; Tomasoni, Susanna; Piras, Rossella; Krendel, Mira; Bettoni, Serena; Morigi, Marina; Delledonne, Massimo; Pecoraro, Carmine; Abbate, Isabella; Capobianchi, Maria Rosaria; Hildebrandt, Friedhelm; Otto, Edgar; Schaefer, Franz; Macciardi, Fabio; Ozaltin, Fatih; Emre, Sevinc; Ibsirlioglu, Tulin; Benigni, Ariela; Remuzzi, Giuseppe; Noris, Marina (Massachusetts Medical Soc, 2011)
      BACKGROUND Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of ...
    • Nusinersen Versus Sham Control In Infantile-Onset Spinal Muscular Atrophy 

      Finkel, R. S.; Mercuri, E.; Darras, B. T.; Connolly, A. M.; Kuntz, N. L.; Kirschner, J.; Chiriboga, C. A.; Saito, K.; Servais, L.; Tizzano, E.; Topaloglu, H.; Tulinius, M.; Montes, J.; Glanzman, A. M.; Bishop, K.; Zhong, Z. J.; Gheuens, S.; Bennett, C. F.; Schneider, E.; Farwell, W.; De Vivo, D. C. (Massachusetts Medical Soc, 2017)
      BACKGROUND & para;& para;Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide ...
    • Prasugrel Versus Clopidogrel for Acute Coronary Syndromes without Revascularization 

      Roe, Matthew T.; Armstrong, Paul W.; Fox, Keith A. A.; White, Harvey D.; Prabhakaran, Dorairaj; Goodman, Shaun G.; Cornel, Jan H.; Bhatt, Deepak L.; Clemmensen, Peter; Martinez, Felipe; Ardissino, Diego; Nicolau, Jose C.; Boden, William E.; Gurbel, Paul A.; Ruzyllo, Witold; Dalby, Anthony J.; McGuire, Darren K.; Leiva-Pons, Jose L.; Parkhomenko, Alexander; Gottlieb, Shmuel; Topacio, Gracita O.; Hamm, Christian; Pavlides, Gregory; Goudev, Assen R.; Oto, Ali; Tseng, Chuen-Den; Merkely, Bela; Gasparovic, Vladimir; Corbalan, Ramon; Cinteza, Mircea; McLendon, R. Craig; Winters, Kenneth J.; Brown, Eileen B.; Lokhnygina, Yuliya; Aylward, Philip E.; Huber, Kurt; Hochman, Judith S.; Ohman, E. Magnus (Massachusetts Medical Soc, 2012)
      Background The effect of intensified platelet inhibition for patients with unstable angina or myocardial infarction without ST-segment elevation who do not undergo revascularization has not been delineated. Methods In this ...
    • Somatic Mutations In Cerebral Cortical Malformations 

      Jamuar, Saumya S.; Lam, Anh-Thu N.; Kircher, Martin; D'Gama, Alissa M.; Wang, Jian; Barry, Brenda J.; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N.; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K.; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E.; Berkovic, Samuel F.; Leventer, Richard J.; Shen, Yiping; Wu, Bai Lin; Barkovich, A. James; Sahin, Mustafa; Chang, Bernard S.; Bamshad, Michael; Nickerson, Deborah A.; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W.; Walsh, Christopher A. (Massachusetts Medical Soc, 2014)
      BACKGROUND Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic ...