Research Output

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Review article
1992

Current status of Duchenne muscular dystrophy

Iannaccone, S. T., Jan 1 1992, In : Pediatric clinics of North America. 39, 4, p. 879-894 16 p.

Research output: Contribution to journalReview article

21 Scopus citations
1993

Neonatal hypotonia

Miller, V. S., Delgado, M. & Iannaccone, S. T., Jan 1 1993, In : Seminars in Neurology. 13, 1, p. 73-83 11 p.

Research output: Contribution to journalReview article

13 Scopus citations
1997

Nemaline myopathy: Current concepts

North, K. N., Laing, N. G., Wallgren-Pettersson, C., Akkari, A., Barohn, R., Barth, P., Beggs, A., De La Chapelle, A., De Visser, M., Dubowitz, V., Fiszman, M., Goebel, H., Iannaccone, S., Jasani, B., Labeit, S., Laing, N., Lammens, M., Navarro, C., Newman, G., North, K. & 5 others, Pelin, K., Romero, N., Sewry, C., Sloane, A. & Wallgren-Peuersson, C., Jan 1 1997, In : Journal of medical genetics. 34, 9, p. 705-713 9 p.

Research output: Contribution to journalReview article

Open Access
143 Scopus citations
1998

Management of status epilepticus in children.

Sabo-Graham, T. & Seay, A. R., Sep 1998, In : Pediatrics in review / American Academy of Pediatrics. 19, 9, p. 306-309; quiz 310

Research output: Contribution to journalReview article

5 Scopus citations
1999

Parental imprinting and Angelman syndrome.

Lalande, M., Minassian, B. A., DeLorey, T. M. & Olsen, R. W., 1999, In : Advances in neurology. 79, p. 421-429 9 p.

Research output: Contribution to journalReview article

31 Scopus citations
2001

Lafora's disease: Towards a clinical, pathologic, and molecular synthesis

Minassian, B. A., Aug 20 2001, In : Pediatric Neurology. 25, 1, p. 21-29 9 p.

Research output: Contribution to journalReview article

129 Scopus citations
2002

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

Minassian, B. A., 2002, In : Advances in neurology. 89, p. 199-210 12 p.

Research output: Contribution to journalReview article

61 Scopus citations

Spinal muscular atrophies.

Iannaccone, S. T. & Burghes, A., 2002, In : Advances in neurology. 88, p. 83-98 16 p.

Research output: Contribution to journalReview article

5 Scopus citations
2003

Epidemiology of Epilepsy in Pakistan: Review of literature

Khatri, I. A., Iannaccone, S. T., Ilyas, M. S., Abdullah, M. & Saleem, S., Dec 1 2003, In : Journal of the Pakistan Medical Association. 53, 12, p. 594-597 4 p.

Research output: Contribution to journalReview article

33 Scopus citations
2004

Spinal muscular atrophy

Iannaccone, S. T., Smith, S. A. & Simard, L. R., Jan 2004, In : Current neurology and neuroscience reports. 4, 1, p. 74-80 7 p.

Research output: Contribution to journalReview article

38 Scopus citations
2005

Challenges and opportunities in clinical trials for spinal muscular atrophy

Hirtz, D., Iannaccone, S., Heemskerk, J., Gwinn-Hardy, K., Moxley, R. & Rowland, L. P., Nov 8 2005, In : Neurology. 65, 9, p. 1352-1357 6 p.

Research output: Contribution to journalReview article

35 Scopus citations

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.

Chan, E. M., Andrade, D. M., Franceschetti, S. & Minassian, B., 2005, In : Advances in neurology. 95, p. 47-57 11 p.

Research output: Contribution to journalReview article

34 Scopus citations

Sacred disease secrets revealed: The genetics of human epilepsy

Turnbull, J., Lohi, H., Kearney, J. A., Rouleau, G. A., Delgado-Escueta, A. V., Meisler, M. H., Cossette, P. & Minassian, B. A., Sep 1 2005, In : Human molecular genetics. 14, 17, p. 2491-2500 10 p.

Research output: Contribution to journalReview article

73 Scopus citations

Sturge-Weber syndrome associated with other abnormalities: A medical record and literature review

Comi, A. M., Mehta, P., Hatfield, L. A. & Dowling, M. M., Dec 1 2005, In : Archives of neurology. 62, 12, p. 1924-1927 4 p.

Research output: Contribution to journalReview article

18 Scopus citations
2006

Drug treatment for spinal muscular atrophy type I

Bosboom, W. M. J., Van Den Berg, L. H., Iannaccone, S. T., Vrancken, A. F. J. E. & Wokke, J. H. J., Dec 1 2006, In : Cochrane Database of Systematic Reviews. 4, CD006281.

Research output: Contribution to journalReview article

5 Scopus citations

On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.

Lohi, H., Chan, E. M., Scherer, S. W. & Minassian, B. A., 2006, In : Advances in neurology. 97, p. 399-415 17 p.

Research output: Contribution to journalReview article

15 Scopus citations

What intractability information is there in the type of generalized seizure?

Mohamed, I. S. & Minassian, B. A., 2006, In : Advances in neurology. 97, p. 141-147 7 p.

Research output: Contribution to journalReview article

2 Scopus citations
2007

Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

Lohi, H., Turnbull, J., Zhao, X. C., Pullenayegum, S., Ianzano, L., Yahyaoui, M., Mikati, M. A., Franceschetti, S., Zara, F. & Minassian, B. A., Mar 1 2007, In : Neurology. 68, 13, p. 996-1001 6 p.

Research output: Contribution to journalReview article

31 Scopus citations

Genetics of epilepsies

Andrade, D. M. & Minassian, B. A., Jun 1 2007, In : Expert review of neurotherapeutics. 7, 6, p. 727-734 8 p.

Research output: Contribution to journalReview article

14 Scopus citations

Lafora disease, seizures and sugars

Andrade, D. M., Turnbull, J. & Minassian, B. A., Jul 1 2007, In : Acta Myologica. 26, 1, p. 83-86 4 p.

Research output: Contribution to journalReview article

27 Scopus citations

Modern management of spinal muscular atrophy

Iannaccone, S. T., Aug 1 2007, In : Journal of child neurology. 22, 8, p. 974-978 5 p.

Research output: Contribution to journalReview article

56 Scopus citations

The safety of levetiracetam

Sirsi, D. & Safdieh, J. E., May 1 2007, In : Expert Opinion on Drug Safety. 6, 3, p. 241-250 10 p.

Research output: Contribution to journalReview article

44 Scopus citations
2008

Clinical Trials in Spinal Muscular Atrophy

Kaufmann, P. & Iannaccone, S. T., Aug 1 2008, In : Physical Medicine and Rehabilitation Clinics of North America. 19, 3, p. 653-660 8 p.

Research output: Contribution to journalReview article

12 Scopus citations

Optimizing gene delivery vectors for the treatment of heart disease

Gray, S. J. & Samulski, R. J., Jul 1 2008, In : Expert Opinion on Biological Therapy. 8, 7, p. 911-922 12 p.

Research output: Contribution to journalReview article

44 Scopus citations
2009

Drug treatment for spinal muscular atrophy type I

Bosboom, W. M. J., Vrancken, A. F. J. E., Van Den Berg, L. H., Wokke, J. H. J. & Iannaccone, S. T., Sep 18 2009, In : Cochrane Database of Systematic Reviews. 1, CD006281.

Research output: Contribution to journalReview article

22 Scopus citations

Drug treatment for spinal muscular atrophy types II and III.

Bosboom, W. M. J., Vrancken, A. F. J. E., van den Berg, L. H., Wokke, J. H. J. & Iannaccone, S. T., Jan 1 2009, In : Cochrane database of systematic reviews (Online). 1

Research output: Contribution to journalReview article

2 Scopus citations

Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus

Andrade, D. M., Hamani, C. & Minassian, B. A., Jul 1 2009, In : Expert Opinion on Pharmacotherapy. 10, 10, p. 1549-1560 12 p.

Research output: Contribution to journalReview article

6 Scopus citations
2010

Dystrophinopathy in girls with limb girle muscular dystrophy phenotype

Golla, S., Agadi, S., Burns, D. K., Marks, W., Dev Batish, S., Del Gaudio, D. & Iannaccone, S. T., Jun 2010, In : Journal of Clinical Neuromuscular Disease. 11, 4, p. 203-208 6 p.

Research output: Contribution to journalReview article

6 Scopus citations

Viral vectors and delivery strategies for CNS gene therapy

Gray, S. J., Woodard, K. T. & Samulski, R. J., Oct 1 2010, In : Therapeutic Delivery. 1, 4, p. 517-534 18 p.

Research output: Contribution to journalReview article

48 Scopus citations
2011

Intracardiac shunting and stroke in children: A systematic review

Dowling, M. M. & Ikemba, C. M., Jan 1 2011, In : Journal of child neurology. 26, 1, p. 72-82 11 p.

Research output: Contribution to journalReview article

22 Scopus citations
2012

Childhood spinal muscular atrophy: Controversies and challenges

Mercuri, E., Bertini, E. & Iannaccone, S. T., May 1 2012, In : The Lancet Neurology. 11, 5, p. 443-452 10 p.

Research output: Contribution to journalReview article

133 Scopus citations

Dravet syndrome: Seizure control and gait in adults with different SCN1A mutations

Rilstone, J. J., Coelho, F. M., Minassian, B. A. & Andrade, D. M., Aug 1 2012, In : Epilepsia. 53, 8, p. 1421-1428 8 p.

Research output: Contribution to journalReview article

34 Scopus citations

Drug treatment for spinal muscular atrophy types II and III.

Wadman, R. I., Bosboom, W. M., van den Berg, L. H., Wokke, J. H., Iannaccone, S. T. & Vrancken, A. F., 2012, In : Cochrane database of systematic reviews (Online). 4, p. CD006282

Research output: Contribution to journalReview article

24 Scopus citations

Viral vectors for gene delivery to the central nervous system

Lentz, T. B., Gray, S. J. & Samulski, R. J., Nov 1 2012, In : Neurobiology of Disease. 48, 2, p. 179-188 10 p.

Research output: Contribution to journalReview article

142 Scopus citations
2013

Clinical Neurogenetics: Dystonia From Phenotype to Genotype

Waugh, J. L. & Sharma, N., Nov 1 2013, In : Neurologic Clinics. 31, 4, p. 969-986 18 p.

Research output: Contribution to journalReview article

3 Scopus citations

Congenital muscular dystrophies and congenital myopathies

Iannaccone, S. T. & Castro, D., Dec 1 2013, In : CONTINUUM Lifelong Learning in Neurology. 19, 6, p. 1509-1534 26 p.

Research output: Contribution to journalReview article

12 Scopus citations

Gene therapy and neurodevelopmental disorders

Gray, S. J., May 1 2013, In : Neuropharmacology. 68, p. 136-142 7 p.

Research output: Contribution to journalReview article

24 Scopus citations

Laforin prevents stress-induced polyglucosan body formation and lafora disease progression in neurons

Liu, Y., Wang, Y., Ma, K., Wang, P., Baba, O., Zhang, H., Parent, J. M., Zheng, P., Liu, Y. & Minassian, B. A., Aug 2013, In : Molecular Neurobiology. 48, 1, p. 49-61 13 p.

Research output: Contribution to journalReview article

11 Scopus citations

Progress in gene therapy for neurological disorders

Simonato, M., Bennett, J., Boulis, N. M., Castro, M. G., Fink, D. J., Goins, W. F., Gray, S. J., Lowenstein, P. R., Vandenberghe, L. H., Wilson, T. J., Wolfe, J. H. & Glorioso, J. C., May 2013, In : Nature Reviews Neurology. 9, 5, p. 277-291 15 p.

Research output: Contribution to journalReview article

128 Scopus citations

Rett syndrome and epilepsy: An update for child neurologists

Dolce, A., Ben-Zeev, B., Naidu, S. & Kossoff, E. H., May 1 2013, In : Pediatric Neurology. 48, 5, p. 337-345 9 p.

Research output: Contribution to journalReview article

47 Scopus citations
2014

Congenital myopathies and muscular dystrophies

Gilbreath, H. R., Castro, D. & Iannaccone, S. T., Aug 2014, In : Neurologic Clinics. 32, 3, p. 689-703 15 p.

Research output: Contribution to journalReview article

17 Scopus citations

Education in medical billing benefits both neurology trainees and academic departments

Waugh, J. L., Nov 1 2014, In : Neurology. 83, 20, p. 1856-1861 6 p.

Research output: Contribution to journalReview article

9 Scopus citations

Progressive multifocal leukoencephalopathy in pediatric patients: Case report and literature review

Schwenk, H., Ramirez-Avila, L., Sheu, S. H., Wuthrich, C., Waugh, J., Was, A., Degirolami, U., Burchett, S., Koralnik, I. J. & Ahmed, A., Apr 1 2014, In : Pediatric Infectious Disease Journal. 33, 4, p. e99-e105

Research output: Contribution to journalReview article

8 Scopus citations

Review of lipid and lipoprotein(a) abnormalities in childhood arterial ischemic stroke

Sultan, S. M., Schupf, N., Dowling, M. M., Deveber, G. A., Kirton, A. & Elkind, M. S. V., Jan 1 2014, In : International Journal of Stroke. 9, 1, p. 79-87 9 p.

Research output: Contribution to journalReview article

20 Scopus citations

Spinal Muscular Atrophy: Therapeutic Strategies

Castro, D. & Iannaccone, S. T., Sep 28 2014, In : Current Treatment Options in Neurology. 16, 11, 316.

Research output: Contribution to journalReview article

19 Scopus citations

Transition from glycogen to starch metabolism in archaeplastida

Cenci, U., Nitschke, F., Steup, M., Minassian, B. A., Colleoni, C. & Ball, S. G., Jan 1 2014, In : Trends in Plant Science. 19, 1, p. 18-28 11 p.

Research output: Contribution to journalReview article

31 Scopus citations
2015

A brief review of recent Charcot-Marie-Tooth research and priorities

Ekins, S., Litterman, N. K., Arnold, R. J. G., Burgess, R. W., Freundlich, J. S., Gray, S. J., Higgins, J. J., Langley, B., Willis, D. E., Notterpek, L., Pleasure, D., Sereda, M. W. & Moore, A., Feb 26 2015, In : F1000Research. 4

Research output: Contribution to journalReview article

20 Scopus citations

Anemia and ischemia: How low can you go?

Quinn, C. T. & Dowling, M. M., Mar 5 2015, In : Blood. 125, 10, p. 1516-1517 2 p.

Research output: Contribution to journalReview article

Open Access
3 Scopus citations

Stroke in children with cardiac disease: Report from the international pediatric stroke study group symposium

Sinclair, A. J., Fox, C. K., Ichord, R. N., Almond, C. S., Bernard, T. J., Beslow, L. A., Chan, A. K. C., Cheung, M., Deveber, G., Dowling, M. M., Friedman, N., Giglia, T. M., Guilliams, K. P., Humpl, T., Licht, D. J., Mackay, M. T. & Jordan, L. C., Jan 1 2015, In : Pediatric Neurology. 52, 1, p. 5-15 11 p.

Research output: Contribution to journalReview article

21 Scopus citations

X-linked myopathy with excessive autophagy: a failure of self-eating

Dowling, J. J., Moore, S. A., Kalimo, H. & Minassian, B. A., Feb 18 2015, In : Acta Neuropathologica. 129, 3, p. 383-390 8 p.

Research output: Contribution to journalReview article

11 Scopus citations