Works matching AU Iannaccone, T.

Results: 62

Nemaline myopathy: a clinical study of 143 cases.

Published in:

2001

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.;
Ryan, M M;
Schnell, C;
Strickland, C D;
Shield, L K;
Morgan, G;
Iannaccone, S T;
Laing, N G;
Beggs, A H;
North, K N

Publication type:

journal article

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 152, doi. 10.1002/humu.21361

By:

Scharner, Juergen;
Brown, Charlotte A.;
Bower, Matthew;
Iannaccone, Susan T.;
Khatri, Ismail A.;
Escolar, Diana;
Gordon, Erynn;
Felice, Kevin;
Crowe, Carol A.;
Grosmann, Carla;
Meriggioli, Matthew N.;
Asamoah, Alexander;
Gordon, Ora;
Gnocchi, Viola F.;
Ellis, Juliet A.;
Mendell, Jerry R.;
Zammit, Peter S.

Publication type:

Article

Baseline results of the Neuro NEXT spinal muscular atrophy infant biomarker study.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 2, p. 132, doi. 10.1002/acn3.283

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

Publication type:

Article

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.

Published in:

Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837

By:

Nowak, Kristen J.;
Wattanasirichaigoon, Duangrurdee;
Goebel, Hans H.;
Wilce, Matthew;
Pelin, Katarina;
Donner, Kati;
Jacob, Rebecca L.;
Hübner, Christoph;
Oexle, Konrad;
Anderson, Janice R.;
Verity, Christopher M.;
North, Kathryn N.;
Iannaccone, Susan T.;
Müller, Clemens R.;
Nürnberg, Peter;
Muntoni, Francesco;
Sewry, Caroline;
Hughes, Imelda;
Sutphen, Rebecca

Publication type:

Article

Pediatric Aspects of Spinal Rehabilitation.

Published in:

Neurorehabilitation & Neural Repair, 1994, v. 8, n. 1, p. 41, doi. 10.1177/136140969400800107

By:

Iannaccone, Susan T.

Publication type:

Article

Cooperative study for the assessment of therapeutic trials for the spinal muscular atrophies. A methodology to measure the strength of SMA patients.

Published in:

Muscle & Nerve, 1990, v. 13, n. S1, p. S7, doi. 10.1002/mus.880131304

By:

Cook, Jay D.;
Iannaccone, Susan T.;
Russman, Barry S.;
Samaha, Frederick;
Buncher, Ralph R.;
Ross, David;
Hare, Michael;
Smith, Cindy;
Perkins, Betsy;
Zimmerman, Laurie;
Barker, Lisa;
Burhans, Karen;
Newman, Rhonda;
White, Michael;
Bender, Jean;
McLaughlin, Carolyn

Publication type:

Article

Cooperative study for the assessment of therapeutic trials for the spinal muscular atrophies. Preliminary observations on the reliability of the DCN-SMA study group methodology.

Published in:

Muscle & Nerve, 1990, v. 13, n. S1, p. S11, doi. 10.1002/mus.880131305

By:

Samaha, Frederick;
Cook, Jay D.;
Iannaccone, Susan T.;
Russman, Barry S.;
Buncher, Ralph R.;
Barker, Lisa;
Burhans, Karen

Publication type:

Article

Statistical considerations in the study of spinal muscular atrophy.

Published in:

Muscle & Nerve, 1990, v. 13, n. S1, p. S45, doi. 10.1002/mus.880131315

By:

Buncher, C. Ralph;
Samaha, Frederick;
Iannaccone, Susan T.;
Russman, Barry D.;
Cook, Jay D.;
White, Michael;
McLaughlin, Carolyn

Publication type:

Article

Cooperative study for the assessment of therapeutic trials for the spinal muscular atrophies. Sensitivity of the DCN-SMA study group methodology.

Published in:

Muscle & Nerve, 1990, v. 13, n. S1, p. S13, doi. 10.1002/mus.880131306

By:

Russman, Barry S.;
Iannaccone, Susan T.;
Cook, Jay D.;
Buncher, Ralph R.;
Samaha, Frederick;
Perkins, Betsy;
Zimmerman, Laurie

Publication type:

Article

Letters to the Editor.

Published in:

Muscle & Nerve, 1981, v. 4, n. 2, p. 176, doi. 10.1002/mus.880040216

By:

Iannaccone, Susan T.;
Griggs, Robert C.;
Doriguzzi, Carlo;
Bertolotto, Antonio;
Ganzit, Gian Pasquale;
Mongini, Tiziana;
Palmucci, Laura

Publication type:

Article

Normal vitamin E status in spinal muscular atrophy.

Published in:

Annals of Neurology, 1983, v. 13, n. 3, p. 328, doi. 10.1002/ana.410130318

By:

Sokol, Ronald J.;
Iannaccone, Susan T.

Publication type:

Article

Cylindrical spirals in a familial neuromuscular disorder.

Published in:

Annals of Neurology, 1980, v. 7, n. 6, p. 550, doi. 10.1002/ana.410070608

By:

Bove, Kevin E.;
Iannaccone, Susan T.;
Hilton, Pamela K.;
Samaha, Frederick

Publication type:

Article

Transmembrane electrical characteristics of cultured human skeletal muscle cells.

Published in:

Journal of Cellular Physiology, 1987, v. 133, n. 2, p. 409, doi. 10.1002/jcp.1041330230

By:

Iannaccone, Susan T.;
Li, Kai-Xun;
Sperelakis, Nicholas

Publication type:

Article

Autonomic Nervous System in the Control of Energy Balance and Body Weight: Personal Contributions.

Published in:

Neurology Research International, 2013, p. 1, doi. 10.1155/2013/639280

By:

Messina, G.;
De Luca, V.;
Viggiano, An.;
Ascione, A.;
Iannaccone, T.;
Chieffi, S.;
Monda, M.

Publication type:

Article

Myocardial Cell Damage in Duchenne Muscular Dystrophy.

Published in:

Pediatric Cardiology, 2003, v. 24, n. 5, p. 503, doi. 10.1007/s00246-002-0408-9

By:

Ramaciotti, C.;
Iannaccone, S. T.;
Scott, W. A.

Publication type:

Article

CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy.

Published in:

Annals of Neurology, 2005, v. 58, n. 1, p. 151

By:

Diana M. Escolar;
Gunnar Buyse;
Erik Henricson;
Robert Leshner;
Julaine Florence;
Jill Mayhew;
Carolina Tesi‐Rocha;
Ksenija Gorni;
Livia Pasquali;
Kantilal M. Patel;
Robert McCarter;
Jennifer Huang;
Thomas Mayhew;
Tulio Bertorini;
Jose Carlo;
Anne M. Connolly;
Paula R. Clemens;
Nathalie Goemans;
Susan T. Iannaccone;
Masanori Igarashi

Publication type:

Article

CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy.

Published in:

Annals of Neurology, 2005, v. 58, n. 1, p. 151

By:

Diana M. Escolar;
Gunnar Buyse;
Erik Henricson;
Robert Leshner;
Julaine Florence;
Jill Mayhew;
Carolina Tesi‐Rocha;
Ksenija Gorni;
Livia Pasquali;
Kantilal M. Patel;
Robert McCarter;
Jennifer Huang;
Thomas Mayhew;
Tulio Bertorini;
Jose Carlo;
Anne M. Connolly;
Paula R. Clemens;
Nathalie Goemans;
Susan T. Iannaccone;
Masanori Igarashi

Publication type:

Article

Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutationsSee Appendix on page 93.

Published in:

Annals of Neurology, 2004, v. 56, n. 1, p. 86

By:

Pankaj B. Agrawal;
Corinne D. Strickland;
Charles Midgett;
Ana Morales;
Daniel E. Newburger;
Melisa A. Poulos;
Kinga K. Tomczak;
Monique M. Ryan;
Susan T. Iannaccone;
Tom O. Crawford;
Nigel G. Laing;
Alan H. Beggs

Publication type:

Article

Respiratory Care of the Patient with Duchenne Muscular Dystrophy.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2004, v. 170, n. 4, p. 456, doi. 10.1164/rccm.200307-885ST

By:

FINDER, JONATHAN D.;
BIRNKRANT, DAVID;
CARL, JOHN;
FARBER, HAROLD J.;
GOZAL, DAVID;
IANNACCONE, SUSAN T.;
KOVESI, THOMAS;
KRAVITZ, RICHARD M.;
PANITCH, HOWARD;
SCHRAMM, CRAIG;
SCHROTH, MARY;
SHARMA, GIRISH;
SIEVERS, LISA;
SILVESTRI, JEAN M.;
STERNI, LAURA

Publication type:

Article

Social Media and Clinical Trials in Pediatric Disease: Musings From the Bench.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.734691

By:

Nelson, Leslie;
Iannaccone, Susan T.

Publication type:

Article

Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-56479-5

By:

Kumari, Preeti;
Sullivan, Lauren M.;
Li, Zhaozhi;
Parker Conquest, E.;
Cornforth, Elizabeth;
Jayakumar, Rojashree;
Hu, Ningyan;
Alexander Sizemore, J.;
McKee, Brigham B.;
Kitchen, Robert R.;
González-Pérez, Paloma;
Linville, Constance;
Castro, Karla;
Gutierrez, Hilda;
Samaan, Soleil;
Townsend, Elise L.;
Darras, Basil T.;
Rutkove, Seward B.;
Iannaccone, Susan T.;
Clemens, Paula R.

Publication type:

Article

Combination molecular therapies for spinal muscular atrophy: How much is enough?

Published in:

Muscle & Nerve, 2021, v. 63, n. 3, p. 279, doi. 10.1002/mus.27109

By:

Mathews, Katherine D.;
Iannaccone, Susan T.

Publication type:

Article

Response to treatment in pediatric ocular myasthenia gravis.

Published in:

2020

By:

Xu, Lori;
Castro, Diana;
Reisch, Joan S.;
Iannaccone, Susan T.

Publication type:

journal article

Twice‐weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.

Published in:

Muscle & Nerve, 2019, v. 59, n. 6, p. 650, doi. 10.1002/mus.26441

By:

Connolly, Anne M.;
Zaidman, Craig M.;
Golumbek, Paul T.;
Cradock, Mary M.;
Flanigan, Kevin M.;
Kuntz, Nancy L.;
Finkel, Richard S.;
McDonald, Craig M.;
Iannaccone, Susan T.;
Anand, Pallavi;
Siener, Catherine A.;
Florence, Julaine M.;
Lowes, Linda P.;
Alfano, Lindsay N.;
Johnson, Linda B.;
Nicorici, Alina;
Nelson, Leslie L.;
Mendell, Jerry R.

Publication type:

Article

Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.

Published in:

2019

By:

Connolly, Anne M;
Zaidman, Craig M;
Golumbek, Paul T;
Cradock, Mary M;
Flanigan, Kevin M;
Kuntz, Nancy L;
Finkel, Richard S;
McDonald, Craig M;
Iannaccone, Susan T;
Anand, Pallavi;
Siener, Catherine A;
Florence, Julaine M;
Lowes, Linda P;
Alfano, Lindsay N;
Johnson, Linda B;
Nicorici, Alina;
Nelson, Leslie L;
Mendell, Jerry R;
MDA DMD Clinical Research Network

Publication type:

journal article

Rasch analysis of clinical outcome measures in spinal muscular atrophy.

Published in:

Muscle & Nerve, 2014, v. 49, n. 3, p. 422, doi. 10.1002/mus.23937

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

Publication type:

Article

Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy.

Published in:

Muscle & Nerve, 2011, v. 44, n. 2, p. 170, doi. 10.1002/mus.22127

By:

Zimmerman, Angela;
Clemens, Paula R.;
Tesi-Rocha, Carolina;
Connolly, Anne;
Iannaccone, Susan T.;
Kuntz, Nancy;
Arrieta, Adrienne;
Hache, Lauren;
Henricson, Erik;
Hu, Fengming;
Mayhew, Jill;
Escolar, Diana M.

Publication type:

Article

Estimating health state utilities in Duchenne muscular dystrophy using the health utilities index and EQ-5D-5L.

Published in:

Journal of Patient-Reported Outcomes, 2023, v. 7, n. 1, p. 1, doi. 10.1186/s41687-023-00671-y

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.

Publication type:

Article

Duration of untreated illness and outcome of obsessive-compulsive disorder: A naturalistic follow-up study.

Published in:

European Psychiatry, 2017, v. 41, p. S323, doi. 10.1016/j.eurpsy.2017.02.247

By:

Prisco, V.;
Perris, F.;
Iannaccone, T.;
Fabrazzo, M.;
Catapano, F.

Publication type:

Article

Leukocytosis in Clozapine-treated Patients: a Sign of Loss of Response to the Antipsychotic.

Published in:

European Psychiatry, 2015, v. 30, p. 1589, doi. 10.1016/S0924-9338(15)31226-8

By:

Prisco, V.;
Iannaccone, T.;
Fabrazzo, M.

Publication type:

Article

Cutaneous Reactions Carbamazepine-related, Dose and Time Independent, in Chronic Psychotic Patients.

Published in:

European Psychiatry, 2015, v. 30, p. 1592, doi. 10.1016/S0924-9338(15)31229-3

By:

Prisco, V.;
Iannaccone, T.;
Fabrazzo, M.

Publication type:

Article

Nor-clozapine Plasma Concentration/daily Clozapine Dose Ratio (Ncz/d): an Index of Response to Clozapine Treatment.

Published in:

European Psychiatry, 2015, v. 30, p. 830, doi. 10.1016/S0924-9338(15)30648-9

By:

Prisco, V.;
Iannaccone, T.;
Fabrazzo, M.

Publication type:

Article

Dietary L-Tyrosine Supplementation in Nemaline Myopathy.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 6, p. 609, doi. 10.1177/0883073807309794

By:

Ryan, Monique M.;
Sy, Catherine;
Rudge, Sian;
Ellaway, Carolyn;
Ketteridge, David;
Roddick, Laurence C.;
Iannaccone, Susan T.;
Kornberg, Andrew J.;
North, Kathryn N.

Publication type:

Article

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

Published in:

Journal of Child Neurology, 2007, v. 22, n. 8, p. 967, doi. 10.1177/0883073807305664

By:

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

Publication type:

Article

27TH ANNUAL CARRELL-KRUSEN SYMPOSIUM.

Published in:

2005

By:

Iannaccone, Susan T.

Publication type:

Proceeding

Meeting Abstracts.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 3, p. 201

By:

Iannaccone, Susan T.

Publication type:

Article

Meeting Abstracts.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 3, p. 203

By:

Iannaccone, Susan T.

Publication type:

Article

Postoperative Malnutrition in Duchenne Muscular Dystrophy.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 1, p. 17, doi. 10.1177/08830738030180011201

By:

Iannaccone, Susan T.;
Owens, Hollis;
Scott, Janice;
Teitell, Betsy

Publication type:

Article

Meeting Abstracts.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 3, p. 206

By:

Iannaccone, Susan T.

Publication type:

Article

Assessment of Cardiac Function in Adolescents With Duchenne Muscular Dystrophy: Importance of Neurohormones.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 3, p. 191, doi. 10.1177/088307380201700307

By:

Ramaciotti, Claudio;
Scott, William A.;
Lemler, Matthew S.;
Haverland, Cherie;
Iannaccone, Susan T.

Publication type:

Article

Meeting Abstracts.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 3, p. 203, doi. 10.1177/088307380101600308

By:

Iannaccone, Susan T.

Publication type:

Article

Abstracts.

Published in:

1999

By:

Dowling, Michael Morgan;
Chudnow, Robert;
Lindenbaum, Yelena;
Elliot, Jeffrey L.;
Wolfe, Gil I.;
Burns, Dennis K.;
Chin, Lincoln F.;
Barohn, Richard J.;
Mills, Janith;
Iannaccone, Susan T.;
Brumback, Roger;
Baiyeri, Mary O.;
Finkel, Richard S.;
Matthews, Dennis;
Manchester, David K.;
Tyson, R. Wesley;
Wilkening, Greta N.;
Strain, John S.;
Hoffman, Eric P.

Publication type:

Abstract

Muscle Fatigue in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 1997, v. 12, n. 5, p. 321

By:

Iannaccone, Susan T.;
White, Michael;
Browne, Richard;
Russman, Barry;
Buncher, Ralph;
Samaha, Frederick J.

Publication type:

Article

Carbamazepine Trial for Lesch-Nyhan Self-Mutilation.

Published in:

Journal of Child Neurology, 1996, v. 11, n. 6, p. 476, doi. 10.1177/088307389601100613

By:

Roach, E.S.;
Delgado, Mauricio;
Anderson, Louise;
Iannaccone, Susan T.;
Bums, Dennis K.

Publication type:

Article

Book Review: Neurological Rehabilitation, 2nd edition, edited by L. S. Illis. Published in 1994 by Blackwell Scientific, Oxford, England, 592 pages, $125.00.

Published in:

Journal of Child Neurology, 1996, v. 11, n. 4, p. 350, doi. 10.1177/088307389601100423

By:

Iannaccone, Susan T.

Publication type:

Article

Expert Witness Testimony.

Published in:

Journal of Child Neurology, 1996, v. 11, n. 2, p. 171, doi. 10.1177/088307389601100225

By:

Iannaccone, Susan T.

Publication type:

Article

Dystrophin and DNA Diagnosis in a Large Pediatric Muscle Clinic.

Published in:

Journal of Child Neurology, 1994, v. 9, n. 2, p. 162, doi. 10.1177/088307389400900211

By:

Richards, Sue;
Iannaccone, Susan T.

Publication type:

Article

Book Review: Dystrophia Myotonica and Related Disorders, 2nd ed, revised by J.E. Caughey, Constantina Vayenas, and Joanne Dixon. Published in 1991 by C/-Pre-Print Productions, Auckland, New Zealand, 230 pages, $27.79 (paperback).

Published in:

Journal of Child Neurology, 1993, v. 8, n. 2, p. 195, doi. 10.1177/088307389300800226

By:

Iannaccone, Susan T.

Publication type:

Article

Book Review: Peripheral Neuropathy in Childhood, The International Review of Child Neurology, by R.A. Ouvrier, J.G. McLeod, and J.D. Pollard. Published in 1990 by Raven Press, New York, 252 pages, $84.00.

Published in:

Journal of Child Neurology, 1992, v. 7, n. 3, p. 322, doi. 10.1177/088307389200700318

By:

Iannaccone, Susan T.

Publication type:

Article

Myogenes and Myotubes.

Published in:

Journal of Child Neurology, 1992, v. 7, n. 2, p. 180, doi. 10.1177/088307389200700208

By:

Iannaccone, Susan T.

Publication type:

Article