Search Results - "Iannaccone, T."

Childhood spinal muscular atrophy: controversies and challenges by Mercuri, Eugenio, Prof, Bertini, Enrico, MD, Iannaccone, Susan T, Prof

“…Summary Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations…”
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Social Media and Clinical Trials in Pediatric Disease: Musings From the Bench by Nelson, Leslie, Iannaccone, Susan T.

“…The use of social media in clinical trials, for recruiting and retention as well as for collecting data, has become increasingly common. However, little has…”
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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.

“…OBJECTIVE:To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in…”
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Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics by Finkel, Richard S., Mercuri, Eugenio, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, Davis, Rebecca Hurst, Qian, Ying, Sejersen, Thomas

“…•We report an update on standards of care recommendations for spinal muscular atrophy.•The paper provides a review of the recent literature.•Expert opinion is…”
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Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder by Kalvakuntla, Sanjana, Lee, MinJae, Chung, Wendy K, Demarest, Scott, Freed, Amber, Horning, Kyle J, Bichell, Terry Jo, Iannaccone, Susan T, Goodspeed, Kimberly

“…SLC6A1-related disorder is a genetic neurodevelopmental disorder that is caused by loss of function variants in the gene. Solute Carrier Family 6 Member 1 ( )…”
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Pharmacovigilance of Selective Serotonin Reuptake Inhibitors and Gender Differences in Stroke Incidence by Pezzullo, A M, Ferraro, C, Sellitto, C, Iannaccone, T, Giudice, V, Centola, R, Manzo, V, Salvo, F, Filippelli, A

“…Introduction: Selective Serotonin Reuptake Inhibitors (SSRI), commonly used for treating depression, have better tolerability and fewer adverse drug-related…”
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Autonomic Nervous System in the Control of Energy Balance and Body Weight : Personal Contributions by Messina, Giovanni, De Luca, Vincenzo, Viggiano, Andrea, Ascione, A., Iannaccone, T., Chieffi, Sergio, Monda, Marcellino

“…The prevalence of obesity is increasing in the industrialized world, so that the World Health Organization considers obesity as a “pandemia” in rich…”
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Functional Muscle Ischemia in Neuronal Nitric Oxide Synthase-Deficient Skeletal Muscle of Children with Duchenne Muscular Dystrophy by Sander, M, Chavoshan, B, Harris, S A, Iannaccone, S T, Stull, J T, Thomas, G D, Victor, R G

“…Duchenne muscular dystrophy (DMD) is a fatal disease caused by mutation of the gene encoding the cytoskeletal protein dystrophin. Despite a wealth of recent…”
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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

“…Duchenne muscular dystrophy (DMD) is a childhood onset muscular dystrophy leading to shortened life expectancy. There are gaps in published DMD care guidelines…”
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Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients by MILONE, M, SHEN, X. M, SELCEN, D, OHNO, K, BRENGMAN, J, IANNACCONE, S. T, HARPER, C. M, ENGEL, A. G

“…Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic…”
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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

“…Skeletal muscle basal lamina is linked to the sarcolemma through transmembrane receptors, including integrins and dystroglycan. The function of dystroglycan…”
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Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome by Plaster, Nikki M., Tawil, Rabi, Tristani-Firouzi, Martin, Canún, Sonia, Bendahhou, Saı̈d, Tsunoda, Akiko, Donaldson, Matthew R., Iannaccone, Susan T., Brunt, Ewout, Barohn, Richard, Clark, John, Deymeer, Feza, George, Alfred L., Fish, Frank A., Hahn, Angelika, Nitu, Alexandru, Ozdemir, Coskun, Serdaroglu, Piraye, Subramony, S.H., Wolfe, Gil, Fu, Ying-Hui, Ptáček, Louis J.

“…Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We have mapped an Andersen's locus to chromosome…”
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American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation by Birnkrant, David J, Panitch, Howard B, Benditt, Joshua O, Boitano, Louis J, Carter, Edward R, Cwik, Valerie A, Finder, Jonathan D, Iannaccone, Susan T, Jacobson, Lawrence E, Kohn, Gary L, Motoyama, Etsuro K, Moxley, Richard T, Schroth, Mary K, Sharma, Girish D, Sussman, Michael D

“…This statement on the management of patients with Duchenne muscular dystrophy (DMD) undergoing procedural sedation or general anesthesia represents the…”
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Congenital Myopathies and Muscular Dystrophies by Gilbreath, Heather R., PA-C, Castro, Diana, MD, Iannaccone, Susan T., MD

“…The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first…”
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P.3.d.007 Leukocytosis in clozapine-treated patients: a sign of loss of response to the antipsychotic by Prisco, V, Iannaccone, T, Volpe, U, Fabrazzo, M

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P.3.d.008 Nor-clozapine plasma concentration/daily clozapine dose ratio: an index of response to clozapine treatment by Prisco, V, Iannaccone, T, Fabrazzo, M

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Estimating health state utilities in Duchenne muscular dystrophy using the health utilities index and EQ-5D-5L by Audhya, Ivana F., Szabo, Shelagh M., Bever, Andrea, O’Sullivan, Fiona, Malone, Daniel C., Feeny, David, Neumann, Peter, Iannaccone, Susan T., Jayasinghe, P., Gooch, Katherine L.

“…Background The progression of Duchenne muscular dystrophy (DMD) is characterized by loss of ambulation, respiratory insufficiency, cardiomyopathy, and early…”
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New results for risdiplam in spinal muscular atrophy by Iannaccone, Susan T

“…Risdiplam was approved by the US Food and Drug Administration (FDA) in 2020 for use to begin at age 2 months in patients with spinal muscular atrophy whose…”
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Nemaline myopathy: A clinical study of 143 cases by Ryan, Monique M., Schnell, Christina, Strickland, Corinne D., Shield, Lloyd K., Morgan, Graeme, Iannaccone, Susan T., Laing, Nigel G., Beggs, Alan H., North, Kathryn N.

“…We report 143 Australian and North American cases of primary nemaline myopathy. As classified by the European Neuromuscular Centre guidelines, 23 patients had…”
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Nor-clozapine Plasma Concentration/daily Clozapine Dose Ratio (Ncz/d): an Index of Response to Clozapine Treatment by Prisco, V, Iannaccone, T, Fabrazzo, M

“…The present study investigated relationships between plasma concentrations of clozapine (CZ) and nor-clozapine (NCZ), clozapine metabolic index (NCZ/CZ),…”
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