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

by Simha, Vinaya, Agarwal, Anil K., Aronin, Patricia A., Iannaccone, Susan T., Garg, Abhimanyu
Published 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...

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

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

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

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

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

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

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

Drug treatment for spinal muscular atrophy type I

by 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
Published in Cochrane Database Syst Rev (2019)

Drug treatment for spinal muscular atrophy types II and III

by 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
Published in Cochrane Database Syst Rev (2020)

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

by 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.
Published in Neurology (2016)

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

by 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
Published 2002

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

by 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.
Published in Neurology (2015)

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

by 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.
Published in Neurology (2019)

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

by 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.
Published 2009

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

by 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.
Published 2013

Medical management of muscle weakness in Duchenne muscular dystrophy

by 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.
Published in PLoS One (2020)

RASCH ANALYSIS OF CLINICAL OUTCOME MEASURES IN SPINAL MUSCULAR ATROPHY

by 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.
Published in Muscle Nerve (2013)

The CINRG Becker Natural History Study: Baseline Characteristics

by 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
Published in Muscle Nerve (2020)

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

by 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.
Published in Contemp Clin Trials Commun (2018)

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

by 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.
Published in Am J Med Genet A (2020)

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

by 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
Published in J Child Neurol (2010)

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

by 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.
Published in Ann Clin Transl Neurol (2016)