Novel Subtype of Congenital Generalized Lipodystrophy Associated With Muscular Weakness and Cervical Spine Instability

per Simha, Vinaya, Agarwal, Anil K., Aronin, Patricia A., Iannaccone, Susan T., Garg, Abhimanyu
Publicat 2008

The PedsQL™ in Pediatric Patients with Spinal Muscular Atrophy: Feasibility, Reliability, and Validity of the Pediatric Quality of Life Inventory™ Generic Core Scales and Neuromusc...

per Iannaccone, Susan T., Hynan, Linda S., Morton, Anne, Buchanan, Renee, Limbers, Christine A., Varni, James W.
Publicat 2009

Congenital Bone Fractures in Spinal Muscular Atrophy: Functional Role for SMN Protein in Bone Remodeling

per Shanmugarajan, Srinivasan, Swoboda, Kathryn J., Iannaccone, Susan T., Ries, William L., Maria, Bernard L., Reddy, Sakamuri V.
Publicat 2007

Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy

per Sander, Mikael, Chavoshan, Bahman, Harris, Shannon A., Iannaccone, Susan T., Stull, James T., Thomas, Gail D., Victor, Ronald G.
Publicat 2000

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

per Bharucha-Goebel, Diana X., Neil, Erin, Donkervoort, Sandra, Dastgir, Jahannaz, Wiggs, Edythe, Winder, Thomas L., Moore, Steven A., Iannaccone, Susan T., Bönnemann, Carsten G.
Publicat a Neurology (2015)

Drug treatment for spinal muscular atrophy type I

per Wadman, Renske I, van der Pol, W Ludo, Bosboom, Wendy MJ, Asselman, Fay‐Lynn, van den Berg, Leonard H, Iannaccone, Susan T, Vrancken, Alexander FJE
Publicat a Cochrane Database Syst Rev (2019)

Drug treatment for spinal muscular atrophy types II and III

per Wadman, Renske I, van der Pol, W Ludo, Bosboom, Wendy MJ, Asselman, Fay‐Lynn, van den Berg, Leonard H, Iannaccone, Susan T, Vrancken, Alexander FJE
Publicat a Cochrane Database Syst Rev (2020)

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy

per Chiriboga, Claudia A., Swoboda, Kathryn J., Darras, Basil T., Iannaccone, Susan T., Montes, Jacqueline, De Vivo, Darryl C., Norris, Daniel A., Bennett, C. Frank, Bishop, Kathie M.
Publicat a Neurology (2016)

Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia

per Arikawa-Hirasawa, Eri, Le, Alexander H., Nishino, Ichizo, Nonaka, Ikuya, Ho, Nicola C., Francomano, Clair A., Govindraj, Prasanthi, Hassell, John R., Devaney, Joseph M., Spranger, Jürgen, Stevenson, Roger E., Iannaccone, Susan, Dalakas, Marinos C., Yamada, Yoshihiko
Publicat 2002

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy o...

per Kang, Peter B., Morrison, Leslie, Iannaccone, Susan T., Graham, Robert J., Bönnemann, Carsten G., Rutkowski, Anne, Hornyak, Joseph, Wang, Ching H., North, Kathryn, Oskoui, Maryam, Getchius, Thomas S.D., Cox, Julie A., Hagen, Erin E., Gronseth, Gary, Griggs, Robert C.
Publicat a Neurology (2015)

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies

per Darras, Basil T., Chiriboga, Claudia A., Iannaccone, Susan T., Swoboda, Kathryn J., Montes, Jacqueline, Mignon, Laurence, Xia, Shuting, Bennett, C. Frank, Bishop, Kathie M., Shefner, Jeremy M., Green, Allison M., Sun, Peng, Bhan, Ishir, Gheuens, Sarah, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C.
Publicat a Neurology (2019)

Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of α-dystroglycan

per Han, Renzhi, Kanagawa, Motoi, Yoshida-Moriguchi, Takako, Rader, Erik P., Ng, Rainer A., Michele, Daniel E., Muirhead, David E., Kunz, Stefan, Moore, Steven A., Iannaccone, Susan T., Miyake, Katsuya, McNeil, Paul L., Mayer, Ulrike, Oldstone, Michael B. A., Faulkner, John A., Campbell, Kevin P.
Publicat 2009

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

per Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.
Publicat 2013

Medical management of muscle weakness in Duchenne muscular dystrophy

per Rivera, Sarah R., Jhamb, Sumit K., Abdel-Hamid, Hoda Z., Acsadi, Gyula, Brandsema, John, Ciafaloni, Emma, Darras, Basil T., Iannaccone, Susan T., Konersman, Chamindra G., Kuntz, Nancy L., McDonald, Craig M., Parsons, Julie A., Tesi Rocha, Carolina, Zaidman, Craig M., Butterfield, Russell J., Connolly, Anne M., Mathews, Katherine D.
Publicat a PLoS One (2020)

RASCH ANALYSIS OF CLINICAL OUTCOME MEASURES IN SPINAL MUSCULAR ATROPHY

per CANO, STEFAN J., MAYHEW, ANNA, GLANZMAN, ALLAN M., KROSSCHELL, KRISTIN J., SWOBODA, KATHRYN J., MAIN, MARION, STEFFENSEN, BIRGIT F., BÉRARD, CAROLE, GIRARDOT, FRANÇOISE, PAYAN, CHRISTINE A.M., MERCURI, EUGENIO, MAZZONE, ELENA, ELSHEIKH, BAKRI, FLORENCE, JULAINE, HYNAN, LINDA S., IANNACCONE, SUSAN T., NELSON, LESLIE L., PANDYA, SHREE, ROSE, MICHAEL, SCOTT, CHARLES, SADJADI, REZA, YORE, MACKENSIE A., JOYCE, CYNTHIA, KISSEL, JOHN T.
Publicat a Muscle Nerve (2013)

The CINRG Becker Natural History Study: Baseline Characteristics

per Clemens, Paula R., Niizawa, Gabriela, Feng, Jia, Florence, Julaine, D’Alessandro, Andrea Smith, Morgenroth, Lauren P., Gorni, Ksenija, Guglieri, Michela, Connolly, Anne, Wicklund, Matthew, Bertorini, Tulio, Mah, Jean K., Thangarajh, Mathula, Smith, Edward, Kuntz, Nancy, McDonald, Craig M., Henricson, Erik K., Upadhyayula, Saila, Byrne, Barry, Manousakis, Georgios, Harper, Amy, Bravver, Elena, Iannaccone, Susan, Spurney, Christopher, Cnaan, Avital, Gordish-Dressman, Heather
Publicat a Muscle Nerve (2020)

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

per Bartlett, Amy, Kolb, Stephen J., Kingsley, Allison, Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Coffey, Christopher S., Yankey, Jon W., Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Arnold, W. David, Kissel, John T.
Publicat a Contemp Clin Trials Commun (2018)

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

per Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik-Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren-Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie JM., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M, Snyder, Molly, Cai, Chunyu, Lehky, Tanya, Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bönnemann, Carsten G.
Publicat a Am J Med Genet A (2020)

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

per Wang, Ching H., Bonnemann, Carsten G., Rutkowski, Anne, Sejersen, Thomas, Bellini, Jonathan, Battista, Vanessa, Florence, Julaine M., Schara, Ulrike, Schuler, Pamela M., Wahbi, Karim, Aloysius, Annie, Bash, Robert O., Béroud, Christophe, Bertini, Enrico, Bushby, Kate, Cohn, Ronald D., Connolly, Anne M., Deconinck, Nicolas, Desguerre, Isabelle, Eagle, Michelle, Estournet-Mathiaud, Brigitte, Ferreiro, Ana, Fujak, Albert, Goemans, Nathalie, Iannaccone, Susan T., Jouinot, Patricia, Main, Marion, Melacini, Paola, Mueller-Felber, Wolfgang, Muntoni, Francesco, Nelson, Leslie L., Rahbek, Jes, Quijano-Roy, Susana, Sewry, Caroline, Storhaug, Kari, Simonds, Anita, Tseng, Brian, Vajsar, Jiri, Vianello, Andrea, Zeller, Reinhard
Publicat a J Child Neurol (2010)

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

per Kolb, Stephen J., Coffey, Christopher S., Yankey, Jon W., Krosschell, Kristin, Arnold, W. David, Rutkove, Seward B., Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Finkel, Richard, Kaye, Edward, Kingsley, Allison, Renusch, Samantha R., McGovern, Vicki L., Wang, Xueqian, Zaworski, Phillip G., Prior, Thomas W., Burghes, Arthur H.M., Bartlett, Amy, Kissel, John T.
Publicat a Ann Clin Transl Neurol (2016)