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Items: 1 to 50 of 129

1.

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

Darras BT, Chiriboga CA, Iannaccone ST, Swoboda KJ, Montes J, Mignon L, Xia S, Bennett CF, Bishop KM, Shefner JM, Green AM, Sun P, Bhan I, Gheuens S, Schneider E, Farwell W, De Vivo DC; ISIS-396443-CS2/ISIS-396443-CS12 Study Groups.

Neurology. 2019 May 21;92(21):e2492-e2506. doi: 10.1212/WNL.0000000000007527. Epub 2019 Apr 24.

2.

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

Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR; MDA DMD Clinical Research Network.

Muscle Nerve. 2019 Jun;59(6):650-657. doi: 10.1002/mus.26441. Epub 2019 Feb 23.

PMID:
30706490
3.

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

Bartlett A, Kolb SJ, Kingsley A, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Coffey CS, Yankey JW, Cudkowicz ME, McGovern MM, McNeil DE, Arnold WD, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Contemp Clin Trials Commun. 2018 Jul 20;11:113-119. doi: 10.1016/j.conctc.2018.07.002. eCollection 2018 Sep.

4.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

5.

NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project.

Lawlor MW, Iannaccone ST, Mathews K, Muntoni F, Alai-Hansen S, Odenkirchen JC, S Feldman R; CMD Working Group.

J Neuromuscul Dis. 2018;5(1):75-84. doi: 10.3233/JND-170248.

PMID:
29480213
6.

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group.

N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.

7.

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group.

Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.

8.

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group.

Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.

9.

Natural history of infantile-onset spinal muscular atrophy.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators.

Ann Neurol. 2017 Dec;82(6):883-891. doi: 10.1002/ana.25101. Epub 2017 Dec 8.

10.

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Ann Clin Transl Neurol. 2016 Jan 21;3(2):132-45. doi: 10.1002/acn3.283. eCollection 2016 Feb.

11.

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

Chiriboga CA, Swoboda KJ, Darras BT, Iannaccone ST, Montes J, De Vivo DC, Norris DA, Bennett CF, Bishop KM.

Neurology. 2016 Mar 8;86(10):890-7. doi: 10.1212/WNL.0000000000002445. Epub 2016 Feb 10.

12.

Author response.

Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, Christi C, North K.

Neurology. 2015 Oct 20;85(16):1432-3. No abstract available.

PMID:
26771040
13.

Atypical Presentation for Friedreich Ataxia in a Child.

Caron E, Burns D, Castro D, Iannaccone ST.

J Clin Neuromuscul Dis. 2015 Sep;17(1):13-7. doi: 10.1097/CND.0000000000000086.

PMID:
26301374
14.

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC; Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Neurology. 2015 Mar 31;84(13):1369-78. doi: 10.1212/WNL.0000000000001416.

15.

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

Bharucha-Goebel DX, Neil E, Donkervoort S, Dastgir J, Wiggs E, Winder TL, Moore SA, Iannaccone ST, Bönnemann CG.

Neurology. 2015 Apr 7;84(14):1495-7. doi: 10.1212/WNL.0000000000001440. Epub 2015 Mar 13. No abstract available.

16.

Spinal muscular atrophy: therapeutic strategies.

Castro D, Iannaccone ST.

Curr Treat Options Neurol. 2014 Nov;16(11):316. doi: 10.1007/s11940-014-0316-3.

PMID:
25245431
17.

Congenital myopathies and muscular dystrophies.

Gilbreath HR, Castro D, Iannaccone ST.

Neurol Clin. 2014 Aug;32(3):689-703, viii. doi: 10.1016/j.ncl.2014.04.006. Review.

PMID:
25037085
18.

Congenital muscular dystrophies and congenital myopathies.

Iannaccone ST, Castro D.

Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1509-34. doi: 10.1212/01.CON.0000440658.03557.f1. Review.

PMID:
24305446
19.

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

Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH.

Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.

20.

Rasch analysis of clinical outcome measures in spinal muscular atrophy.

Cano SJ, Mayhew A, Glanzman AM, Krosschell KJ, Swoboda KJ, Main M, Steffensen BF, Bérard C, Girardot F, Payan CA, Mercuri E, Mazzone E, Elsheikh B, Florence J, Hynan LS, Iannaccone ST, Nelson LL, Pandya S, Rose M, Scott C, Sadjadi R, Yore MA, Joyce C, Kissel JT; International Coordinating Committee for SMA Clinical Trials Rasch Task Force.

Muscle Nerve. 2014 Mar;49(3):422-30. doi: 10.1002/mus.23937. Epub 2013 Jul 26.

21.

Childhood spinal muscular atrophy: controversies and challenges.

Mercuri E, Bertini E, Iannaccone ST.

Lancet Neurol. 2012 May;11(5):443-52. doi: 10.1016/S1474-4422(12)70061-3. Review.

PMID:
22516079
22.

Drug treatment for spinal muscular atrophy types II and III.

Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF.

Cochrane Database Syst Rev. 2012 Apr 18;(4):CD006282. doi: 10.1002/14651858.CD006282.pub4. Review.

PMID:
22513940
23.

Drug treatment for spinal muscular atrophy type I.

Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF.

Cochrane Database Syst Rev. 2012 Apr 18;(4):CD006281. doi: 10.1002/14651858.CD006281.pub4. Review.

PMID:
22513939
24.

Drug treatment for spinal muscular atrophy types II and III.

Wadman RI, Bosboom WM, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF.

Cochrane Database Syst Rev. 2011 Dec 7;(12):CD006282. doi: 10.1002/14651858.CD006282.pub3. Review. Update in: Cochrane Database Syst Rev. 2012;4:CD006282.

PMID:
22161400
25.

Drug treatment for spinal muscular atrophy type I.

Wadman RI, Bosboom WM, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF.

Cochrane Database Syst Rev. 2011 Dec 7;(12):CD006281. doi: 10.1002/14651858.CD006281.pub3. Review. Update in: Cochrane Database Syst Rev. 2012;4:CD006281.

PMID:
22161399
26.

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

Zimmerman A, Clemens PR, Tesi-Rocha C, Connolly A, Iannaccone ST, Kuntz N, Arrieta A, Hache L, Henricson E, Hu F, Mayhew J, Escolar DM.

Muscle Nerve. 2011 Aug;44(2):170-3. doi: 10.1002/mus.22127. Epub 2011 Jun 14.

27.

Consensus statement on standard of care for congenital muscular dystrophies.

Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R; International Standard of Care Committee for Congenital Muscular Dystrophy.

J Child Neurol. 2010 Dec;25(12):1559-81. doi: 10.1177/0883073810381924. Epub 2010 Nov 15. Review.

28.

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

Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS.

Hum Mutat. 2011 Feb;32(2):152-67. doi: 10.1002/humu.21361. Epub 2011 Jan 25.

PMID:
20848652
29.

Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.

Golla S, Agadi S, Burns DK, Marks W, Dev Batish S, del Gaudio D, Iannaccone ST.

J Clin Neuromuscul Dis. 2010 Jun;11(4):203-8. doi: 10.1097/CND.0b013e3181c7f18f.

PMID:
20516809
30.

The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales.

Davis SE, Hynan LS, Limbers CA, Andersen CM, Greene MC, Varni JW, Iannaccone ST.

J Clin Neuromuscul Dis. 2010 Mar;11(3):97-109. doi: 10.1097/CND.0b013e3181c5053b.

PMID:
20215981
31.

Reliability of telephone administration of the PedsQL Generic Quality of Life Inventory and Neuromuscular Module in spinal muscular atrophy (SMA).

Dunaway S, Montes J, Montgomery M, Battista V, Koo B, Marra J, De Vivo DC, Hynan LS, Iannaccone ST, Kaufmann P.

Neuromuscul Disord. 2010 Mar;20(3):162-5. doi: 10.1016/j.nmd.2009.12.002. Epub 2010 Jan 13.

PMID:
20074950
32.

The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module.

Iannaccone ST, Hynan LS, Morton A, Buchanan R, Limbers CA, Varni JW; AmSMART Group.

Neuromuscul Disord. 2009 Dec;19(12):805-12. doi: 10.1016/j.nmd.2009.09.009. Epub 2009 Oct 28.

33.

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

Han R, Kanagawa M, Yoshida-Moriguchi T, Rader EP, Ng RA, Michele DE, Muirhead DE, Kunz S, Moore SA, Iannaccone ST, Miyake K, McNeil PL, Mayer U, Oldstone MB, Faulkner JA, Campbell KP.

Proc Natl Acad Sci U S A. 2009 Aug 4;106(31):12573-9. doi: 10.1073/pnas.0906545106. Epub 2009 Jul 24.

34.

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG.

Neurology. 2009 Jul 21;73(3):228-35. doi: 10.1212/WNL.0b013e3181ae7cbc.

35.

Drug treatment for spinal muscular atrophy types II and III.

Bosboom W, Vrancken AF, van den Berg LH, Wokke JH, Iannaccone ST.

Cochrane Database Syst Rev. 2009 Jan 21;(1):CD006282. doi: 10.1002/14651858.CD006282.pub2. Review. Update in: Cochrane Database Syst Rev. 2011;(12):CD006282.

PMID:
19160275
36.

Drug treatment for spinal muscular atrophy type I.

Bosboom W, Vrancken AF, van den Berg LH, Wokke J, Iannaccone ST.

Cochrane Database Syst Rev. 2009 Jan 21;(1):CD006281. doi: 10.1002/14651858.CD006281.pub2. Review. Update in: Cochrane Database Syst Rev. 2011;(12):CD006281.

PMID:
19160274
37.

Low bone mineral density in spinal muscular atrophy.

Khatri IA, Chaudhry US, Seikaly MG, Browne RH, Iannaccone ST.

J Clin Neuromuscul Dis. 2008 Sep;10(1):11-7. doi: 10.1097/CND.0b013e318183e0fa.

PMID:
18772695
38.

The test of infant motor performance: reliability in spinal muscular atrophy type I.

Finkel RS, Hynan LS, Glanzman AM, Owens H, Nelson L, Cone SR, Campbell SK, Iannaccone ST; AmSMART Group.

Pediatr Phys Ther. 2008 Fall;20(3):242-6. doi: 10.1097/PEP.0b013e318181ae96.

PMID:
18703961
39.

Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.

Simha V, Agarwal AK, Aronin PA, Iannaccone ST, Garg A.

Am J Med Genet A. 2008 Sep 15;146A(18):2318-26. doi: 10.1002/ajmg.a.32457.

40.

Clinical trials in spinal muscular atrophy.

Kaufmann P, Iannaccone ST.

Phys Med Rehabil Clin N Am. 2008 Aug;19(3):653-60, xii. doi: 10.1016/j.pmr.2008.04.006. Review.

PMID:
18625422
41.

Dietary L-tyrosine supplementation in nemaline myopathy.

Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN.

J Child Neurol. 2008 Jun;23(6):609-13. Epub 2007 Dec 13.

PMID:
18079309
42.

American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.

Birnkrant DJ, Panitch HB, Benditt JO, Boitano LJ, Carter ER, Cwik VA, Finder JD, Iannaccone ST, Jacobson LE, Kohn GL, Motoyama EK, Moxley RT, Schroth MK, Sharma GD, Sussman MD.

Chest. 2007 Dec;132(6):1977-86.

PMID:
18079231
43.

Modern management of spinal muscular atrophy.

Iannaccone ST.

J Child Neurol. 2007 Aug;22(8):974-8. Review.

PMID:
17761652
44.

Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling.

Shanmugarajan S, Swoboda KJ, Iannaccone ST, Ries WL, Maria BL, Reddy SV.

J Child Neurol. 2007 Aug;22(8):967-73. Review.

45.

Muscle memory.

Iannaccone ST.

J Pediatr. 2007 May;150(5):456-7. No abstract available.

PMID:
17452213
46.

Outcome of noninvasive ventilation in children with neuromuscular disease.

Young HK, Lowe A, Fitzgerald DA, Seton C, Waters KA, Kenny E, Hynan LS, Iannaccone ST, North KN, Ryan MM.

Neurology. 2007 Jan 16;68(3):198-201.

PMID:
17224573
47.

Left ventricular function and response to enalapril in patients with duchenne muscular dystrophy during the second decade of life.

Ramaciotti C, Heistein LC, Coursey M, Lemler MS, Eapen RS, Iannaccone ST, Scott WA.

Am J Cardiol. 2006 Sep 15;98(6):825-7. Epub 2006 Aug 2.

PMID:
16950195
48.

The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy.

Nelson L, Owens H, Hynan LS, Iannaccone ST; AmSMART Group.

Neuromuscul Disord. 2006 Jun;16(6):374-80. Epub 2006 May 2.

PMID:
16632361
49.

Meeting Abstracts.

Iannaccone ST.

J Child Neurol. 2006 Mar;21(3):261-273. doi: 10.2310/7010.2006.00062. No abstract available.

PMID:
28102750
50.

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K.

Neuromuscul Disord. 2005 Nov;15(11):802-16. Epub 2005 Oct 3. No abstract available.

PMID:
16202598

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