Nancy L Kuntz

  • 1959 Citations
1982 …2020
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Research Output 1982 2018

  • 1959 Citations
  • 56 Article
  • 15 Chapter
  • 8 Review article
2018

A checklist for clinical trials in rare disease: Obstacles and anticipatory actions-lessons learned from the FOR-DMD trial

Crow, R. A., Hart, K. A., McDermott, M. P., Tawil, R., Martens, W. B., Herr, B. E., McColl, E., Wilkinson, J., Kirschner, J., King, W. M., Eagle, M., Brown, M. W., Hirtz, D., Lochmuller, H., Straub, V., Ciafaloni, E., Shieh, P. B., Spinty, S., Childs, A. M., Manzur, A. Y. & 28 othersMorandi, L., Butterfield, R. J., Horrocks, I., Roper, H., Flanigan, K. M., Kuntz, N. L., Mah, J. K., Morrison, L., Darras, B. T., von der Hagen, M., Schara, U., Wilichowski, E., Mongini, T., McDonald, C. M., Vita, G., Barohn, R. J., Finkel, R. S., Wicklund, M., McMillan, H. J., Hughes, I., Pegoraro, E., Bryan Burnette, W., Howard, J. F., Thangarajh, M., Campbell, C., Griggs, R. C., Bushby, K. & Guglieri, M., May 10 2018, In : Trials. 19, 1, 291.

Research output: Contribution to journalReview article

Duchenne Muscular Dystrophy
Rare Diseases
Checklist
Steroids
Clinical Trials
4 Citations

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

Beggs, A. H., Byrne, B. J., De Chastonay, S., Haselkorn, T., Hughes, I., James, E. S., Kuntz, N. L., Simon, J., Swanson, L. C., Yang, M. L., Yu, Z. F., Yum, S. W. & Prasad, S., Apr 1 2018, In : Muscle and Nerve. 57, 4, p. 550-560 11 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Medical Records
Mortality
Parturition
Muscle Hypotonia

Autonomic Nervous System Dysregulation in monozygotic Twins with nephropathic cystinosis

Brocks, ER., Deng, F., Weese-Mayer, DE., Kuntz, NL. & Langman, CB., Jan 2018, In : Kidney Int Reports.

Research output: Contribution to journalArticle

Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis

Brooks, E. R., Deng, F., Weese-Mayer, D. E., Kuntz, N. L. & Langman, C., Jan 1 2018, (Accepted/In press) In : Kidney International Reports.

Research output: Contribution to journalArticle

Cystinosis
Autonomic Nervous System
3 Citations

Developing treatment guidelines for myasthenia gravis

The MGFA Task Force On Mg Treatment Guidance, Jan 1 2018, In : Annals of the New York Academy of Sciences. 1412, 1, p. 95-101 7 p.

Research output: Contribution to journalReview article

Intravenous Immunoglobulins
Myasthenia Gravis
Immunosuppressive Agents
Protein-Tyrosine Kinases
Muscle
19 Citations

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

CINRG Investigators, Feb 3 2018, In : The Lancet. 391, 10119, p. 451-461 11 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Glucocorticoids
Cohort Studies
Quality of Life
Prospective Studies

Novel methods of imaging and analysis for the thermoregulatory sweat test

Carroll, M. S., Reed, D. W., Kuntz, N. L. & Weese-Mayer, D. E., Sep 1 2018, In : Journal of applied physiology. 125, 3, p. 755-762 8 p.

Research output: Contribution to journalArticle

Sweat
Sweating
Hot Temperature
Powders
Autonomic Pathways
62 Citations

Nusinersen versus sham control in later-onset spinal muscular atrophy

Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., Iannaccone, S. T., Kirschner, J., Kuntz, N. L., Saito, K., Shieh, P. B., Tulinius, M., Mazzone, E. S., Montes, J., Bishop, K. M., Yang, Q., Foster, R., Gheuens, S., Bennett, C. F., Farwell, W. & 3 othersSchneider, E., De Vivo, D. C. & Finkel, R. S., Feb 15 2018, In : New England Journal of Medicine. 378, 7, p. 625-635 11 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Control Groups
Least-Squares Analysis
RNA Splicing
Motor Skills

Phase IIa trial in Duchenne Muscular Dystrophy shows vamorolone is a firs-in- class dissociative steroidal anti-inflammatory drug.

Conklin, LS., Damsker, JM., Hoffman, EP., Jusko, WJ., Mavroudis, PD., Schwartz, BD., Mengle-Gaw, LJ., Smith, EC., Mah, JK., Guglieri, M., Nego, Y., Kuntz, N., McDonald, CM., Mar, T., Ryan, MM., Webster, R., Castro, D., Finkel, RS., Smith, AL., Morgenroth, LP. & 12 othersAa, A., Shimony, M., Jaros, M., Shale, P., MdDall, JM., Hathout, Magaraju, K., van, D. A. J., Ward, LM., Ahmet, A., Cornish, HR. & Clemens, PR., 2018, In : Pharmacologic Research. 36

Research output: Contribution to journalArticle

2 Citations

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug

Conklin, L. S., Damsker, J. M., Hoffman, E. P., Jusko, W. J., Mavroudis, P. D., Schwartz, B. D., Mengle-Gaw, L. J., Smith, E. C., Mah, J. K., Guglieri, M., Nevo, Y., Kuntz, N. L., McDonald, C. M., Tulinius, M., Ryan, M. M., Webster, R., Castro, D., Finkel, R. S., Smith, A. L., Morgenroth, L. P. & 12 othersArrieta, A., Shimony, M., Jaros, M., Shale, P., McCall, J. M., Hathout, Y., Nagaraju, K., van den Anker, J., Ward, L. M., Ahmet, A., Cornish, M. R. & Clemens, P. R., Oct 1 2018, In : Pharmacological Research. 136, p. 140-150 11 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Anti-Inflammatory Agents
Biomarkers
Safety
Pharmaceutical Preparations

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

The NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators, Sep 1 2018, In : Contemporary Clinical Trials Communications. 11, p. 113-119 7 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Biomarkers
Natural History
Clinical Trials
Clinical Protocols
5 Citations

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., Finkel, R., Howell, R. R., Klinger, K., Kuntz, N. L., Prior, T., Shieh, P. B., Crawford, T. O., Kerr, D. & Jarecki, J., Jan 1 2018, In : Journal of neuromuscular diseases. 5, 2, p. 145-158 14 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Newborn Infant
Motor Neurons
Guidelines
Therapeutics

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.

Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., Finkel, R., Howell, RR., Klinger, K., Kuntz, N., Prior, T., Shieh, PB., Crawford, TO., Kerr, D. & Jarecki, J., 2018, In : J Neuromuscul Dis. 5, p. 145-158 14 p.

Research output: Contribution to journalArticle

2017
11 Citations

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy

Guglieri, M., Bushby, K., McDermott, M. P., Hart, K. A., Tawil, R., Martens, W. B., Herr, B. E., McColl, E., Wilkinson, J., Kirschner, J., King, W. M., Eagle, M., Brown, M. W., Willis, T., Hirtz, D., Shieh, P. B., Straub, V., Childs, A. M., Ciafaloni, E., Butterfield, R. J. & 27 othersHorrocks, I., Spinty, S., Flanigan, K. M., Kuntz, N. L., Baranello, G., Roper, H., Morrison, L., Mah, J. K., Manzur, A. Y., McDonald, C. M., Schara, U., von der Hagen, M., Barohn, R. J., Campbell, C., Darras, B. T., Finkel, R. S., Vita, G., Hughes, I., Mongini, T., Pegoraro, E., Wicklund, M., Wilichowski, E., Bryan Burnette, W., Howard, J. F., McMillan, H. J., Thangarajh, M. & Griggs, R. C., Jul 1 2017, In : Contemporary Clinical Trials. 58, p. 34-39 6 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Adrenal Cortex Hormones
Therapeutics
Prednisone
Vital Capacity

Diagnosis and Evaluation of Small Fiber Peripheral Neuropathy in Children

Kuntz, NL., 2017, Pediatric Electromyography. McMillan, HJ. & Kang, PB. (eds.). New York City: Springer Nature

Research output: Chapter in Book/Report/Conference proceedingChapter

21 Citations

Natural history of infantile-onset spinal muscular atrophy

the NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators, Dec 1 2017, In : Annals of Neurology. 82, 6, p. 883-891 9 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophy
Biomarkers
Clinical Trials
Natural History

Nusinersen versus Sam Control in Infantile-Onset Spinal Muscular Atrophy

Finkel, RS., Mercuri, E., Darras, BT., Connolly, AM., Kuntz, NL., Kirschner, J., Chiriboga, CA., Saito, K., Servais, L., Tizzano, E., Topaloglu, H., Tulinius, M., Montes, J., Glanzman, AM., Bishop, K., Zhong, ZJ., Gheuens, S., Bennett, CF., Schneider, E., Farwell, W. & 1 othersDeVivo, DC., 2017, In : New England journal of medicine. 377, 18, p. 1723-1732 10 p.

Research output: Contribution to journalArticle

162 Citations

Nusinersen versus sham control in infantile-onset spinal muscular atrophy

Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., Chiriboga, C. A., Saito, K., Servais, L., Tizzano, E., Topaloglu, H., Tulinius, M., Montes, J., Glanzman, A. M., Bishop, K., Zhong, Z. J., Gheuens, S., Bennett, C. F., Schneider, E., Farwell, W. & 1 othersDe Vivo, D. C., Nov 2 2017, In : New England Journal of Medicine. 377, 18, p. 1723-1732 10 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophy
Control Groups
Disease-Free Survival
Motor Neurons
2016
13 Citations

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Bello, L., Punetha, J., Gordish-Dressman, H., Giri, M., Hoffman, E. P., Bello, L., Barp, A., Vianello, S., Pegoraro, E., Flanigan, K. M., Flanigan, K. M., Flanigan, K. M., Weiss, R. B., Spitali, P., Aartsma-Rus, A., Aartsma-Rus, A., Straub, V., Lochmüller, H., Muntoni, F., Zaharieva, I. & 75 othersFerlini, A., Mercuri, E., Tuffery-Giraud, S., Claustres, M., McDonald, C. M., Dunn, D. M., Swoboda, K. J., Gappmaier, E., Howard, M. T., Sampson, J. B., Bromberg, M. B., Butterfield, R., Kerr, L., Pestronk, A., Florence, J. M., Connolly, A., Lopate, G., Golumbek, P., Schierbecker, J., Malkus, B., Renna, R., Siener, C., Finkel, R. S., Bonnemann, C. G., Medne, L., Glanzman, A. M., Flickinger, J., Mendell, J. R., King, W. M., Lowes, L., Alfano, L., Mathews, K. D., Stephan, C., Laubenthal, K., Baldwin, K., Wong, B., Morehart, P., Meyer, A., Day, J. W., Naughton, C. E., Margolis, M., Cnaan, A., Abresch, R. T., Henricson, E. K., Morgenroth, L. P., Duong, T., Chidambaranathan, V. V., Biggar, W. D., McAdam, L. C., Mah, J., Tulinius, M., Leshner, R., Rocha, C. T., Thangarajh, M., Kornberg, A., Ryan, M., Nevo, Y., Dubrovsky, A., Clemens, P. R., Abdel-Hamid, H., Connolly, A. M., Pestronk, A., Teasley, J., Bertorini, T. E., North, K., Webster, R., Kolski, H., Kuntz, N., Driscoll, S., Carlo, J., Gorni, K., Lotze, T., Day, J. W., Karachunski, P. & Bodensteiner, J. B., Nov 3 2016, In : American Journal of Human Genetics. 99, 5, p. 1163-1171 9 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Transforming Growth Factor beta
Exons
Exome
Single Nucleotide Polymorphism

Autonomic Disorders in Children.

Kuntz, NL. & Oswald, T., 2016, Clinical Neurophysiology in Pediatrics: A Practical Approach to Neurodiagnostic Testing and Management.. Galloway, GM. (ed.). New York City, NY: Demos Medical Publishing, p. 241-264

Research output: Chapter in Book/Report/Conference proceedingChapter

98 Citations

International consensus guidance for management of myasthenia gravis: Executive summary

Sanders, D. B., Wolfe, G. I., Benatar, M., Evoli, A., Gilhus, N. E., Illa, I., Kuntz, N., Massey, J. M., Melms, A., Murai, H., Nicolle, M., Palace, J., Richman, D. P., Verschuuren, J. & Narayanaswami, P., Jul 26 2016, In : Neurology. 87, 4, p. 419-425 7 p.

Research output: Contribution to journalReview article

Myasthenia Gravis
Consensus
Thymectomy
Plasma Exchange
Intravenous Immunoglobulins

Peripheral nerve disorders in the neonate

Choi, H. W. & Kuntz, N. L., Jan 1 2016, In : NeoReviews. 17, 12, p. e719-e728

Research output: Contribution to journalArticle

Peripheral Nerves
Muscle Hypotonia
Peripheral Nervous System
Neurologic Examination
Genetic Testing

Peripheral Nerve Disorders in the Neonate.

Choi, HW. & Kuntz, NL., Jan 2016, In : Neo Reviews. 17, 12, p. 719-728 10 p.

Research output: Contribution to journalArticle

2014
7 Citations

Cerebellar mutism in acute disseminating encephalomyelitis

McAndrew, S., Listernick, R. & Kuntz, N., Jan 1 2014, In : Pediatric neurology. 50, 5, p. 511-514 4 p.

Research output: Contribution to journalArticle

Mutism
Acute Disseminated Encephalomyelitis
Encephalomyelitis
Cerebellum
Language
37 Citations

Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

Spurney, C., Shimizu, R., Morgenroth, L. P., Kolski, H., Gordish-Dressman, H., Clemens, P. R., Cregan, M., Goude, E., Glick, M., Johnson, L., Han, J., Joyce, N., Kilmer, D., Nicorici, A., Chidambaranathan, C., Kumar, S., Eliasoph, L., Hosaki, E., Gonzales, A., Harris, V. & 83 othersChiu, A., Thannhauser, J., Walker, L., Wright, C., Yousefi, M., Alhander, A. C., Wahlgren, L., Ekstrom, A. B., Kroksmark, A. K., Sterky, U., Birkmeier, M., Duong, T., Kaminski, S., Carroll, K., DeValle, K., Kennedy, R., Kornberg, A., Rodriguez, V., Villano, D., Leve, A. B., Wisband, E., Yaffe, D., Andreone, L., Corderi, J., Mesa, L., Levi, L., Coleman-Wood, K., Hoffman, A., Korn-Petersen, W., Kuntz, N. L., Selcen, D., Abdel-Hamid, H., Bise, C., Craig, A., Nguyen, C., Weimer, J., Al-Lozi, M., Florence, J., Golumbak, P., Lopate, G., Malane, J., Malkus, B., Renna, R., Schierbacker, J., Seiner, C., Wulf, C., Blair, S., Grillo, B., Jones, K., Monasterio, E., Barrett-Adair, M., Clift, J., Feliciano, C., Young, R., Rose, K., Webster, R., Wicks, S., Chen, L., Kennedy, C., Deliz, B., Espada, S., Fuste, P., Luciano, C., Beneggi, M., Capone, L., Molteni, A., Morettini, V., Gupta, A., McNeil, R., Erickson, A., Margolis, M., Naughton, C., Parry, G., Walk, D., Arrieta, A., Bartley, N., Canelos, P., Casper, R., Cnaan, A., Duong, T., Hu, F., Sund, Z. & Zimmerman, A., Aug 1 2014, In : Muscle and Nerve. 50, 2, p. 250-256 7 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Cardiomyopathies
Research
Therapeutics

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Boizot, A., Talmat, A. Y., Morrosh, D., Kuntz, NL., Holbert, C., Stojkovic, T., Schulman, BA., Rautentramm, B. & Bomont, P., 2014, In : Acta Neuropathol Commun. 2, p. 47 1 p.

Research output: Contribution to journalArticle

9 Citations

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Boizot, A., Talmat-Amar, Y., Morrogh, D., Kuntz, N. L., Halbert, C., Chabrol, B., Houlden, H., Stojkovic, T., Schulman, B. A., Rautenstrauss, B. & Bomont, P., Jan 27 2014, In : Acta neuropathologica communications. 2, 1, 47.

Research output: Contribution to journalArticle

Giant Axonal Neuropathy
Routine Diagnostic Tests
Charcot-Marie-Tooth Disease
Proteins
Mutation
2013
18 Citations

Antibody response to common viruses and human leukocyte antigen-DRB1 in pediatric multiple sclerosis

Waubant, E., Mowry, E. M., Krupp, L., Chitnis, T., Yeh, E. A., Kuntz, N., Ness, J., Belman, A., Milazzo, M., Gorman, M., Weinstock-Guttman, B., Rodriguez, M. & James, J. A., Jan 1 2013, In : Multiple Sclerosis Journal. 19, 7, p. 891-895 5 p.

Research output: Contribution to journalArticle

HLA Antigens
Multiple Sclerosis
Antibody Formation
Nuclear Antigens
Pediatrics

Diagnostic criteria for pediatric multiple sclerosis.

Rubin, J. P. & Kuntz, N. L., Jun 1 2013, In : Current Neurology and Neuroscience Reports. 13, 6, 1 p.

Research output: Contribution to journalArticle

Multiple Sclerosis
Pediatrics
Acute Disseminated Encephalomyelitis
Neuromyelitis Optica
Demyelinating Diseases
8 Citations
Neurology
Multiple Sclerosis
Pediatrics
Acute Disseminated Encephalomyelitis
Neuromyelitis Optica
4 Citations

Laboratory Evaluation of Pediatric Autonomic Disorders

Kuntz, N. L. & Patwari, P. P., Mar 1 2013, In : Seminars in pediatric neurology. 20, 1, p. 35-43 9 p.

Research output: Contribution to journalArticle

Pediatrics
Physiological Phenomena
Gastrointestinal Motility
Autonomic Nervous System
Child Development
19 Citations

Muscle specific kinase autoimmune myasthenia gravis in children: A case series

Skjei, K. L., Lennon, V. A. & Kuntz, N. L., Nov 1 2013, In : Neuromuscular Disorders. 23, 11, p. 874-882 9 p.

Research output: Contribution to journalArticle

Myasthenia Gravis
Phosphotransferases
Muscles
Autoantibodies
Facial Muscles
1 Citations

Quantitative MRI analysis in children with multiple sclerosis: A multicenter feasibility pilot study

Chitnis, T., Guttmann, C. R., Zaitsev, A., Musallam, A., Weinstock-Guttmann, B., Yeh, A., Rodriguez, M., Ness, J., Gorman, M. P., Healy, B. C., Kuntz, N., Chabas, D., Strober, J. B., Waubant, E., Krupp, L., Pelletier, D., Erickson, B., Bergsland, N. & Zivadinov, R., Nov 13 2013, In : BMC Neurology. 13, 173.

Research output: Contribution to journalArticle

Feasibility Studies
Multiple Sclerosis
Gadolinium
Pediatrics
Quality Control
4 Citations

Spasmodic muscle cramps and weakness as presenting symptoms in wilson disease

Rosen, J. M., Kuntz, N., Melin-Aldana, H. & Bass, L. M., Jan 1 2013, In : Pediatrics. 132, 4

Research output: Contribution to journalArticle

Muscle Cramp
Hepatolenticular Degeneration
Muscle Weakness
Copper
Bilirubin
101 Citations
Duchenne Muscular Dystrophy
Natural History
Glucocorticoids
Disease Progression
Outcome Assessment (Health Care)
64 Citations
Duchenne Muscular Dystrophy
Natural History
Glucocorticoids
Longitudinal Studies
Research
52 Citations

The dcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

Gogliotti, R. G., Cardona, H., Jasbir, S., Bail, S., Emery, C., Kuntz, N., Jorgensen, M., Durens Madel, M., Xia, B., Barlow, C., Heier, C. R., Plasterer, H. L., Jacques, V., Kiledjian, M., Jarecki, J., Rusche, J. & Didonato, C. J., Oct 1 2013, In : Human molecular genetics. 22, 20, p. 4084-4101 18 p., ddt258.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Pathology
Survival
Motor Neurons
Quinazolines
2012
4 Citations

Congenital Central Hypoventilation Syndrome (CCHS) and PHOX2B Mutations

Weese-Mayer, D. E., Patwari, P. P., Rand, C. M., Diedrich, A. A., Kuntz, N. L. & Berry-Kravis, E. M., Dec 1 2012, Primer on the Autonomic Nervous System. Elsevier Inc, p. 445-449 5 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Frameshift Mutation
Autonomic Nervous System
Genotype
Hypoventilation
Mutation

Congenital Central Hypoventilation Syndrome (CCHS) and PHOX2B Mutations.

Weese-Mayer, DE., Patwari, PP., Rand, CM., Diedrich, AA., Kuntz, NL. & Berry-Kravis, EM., 2012, Primer on the Autonomic Nervous System. Robertson, D., Biaggioni, I., Burnstock, G., Low, PA. & Paton, JFR. (eds.). Amsterdam: Academic Press, p. 445-459.

Research output: Chapter in Book/Report/Conference proceedingChapter

17 Citations

Pentoxifylline as a rescue treatment for DMD: A randomized double-blind clinical trial

Escolar, D. M., Zimmerman, A., Bertorini, T., Clemens, P. R., Connolly, A. M., Mesa, L., Gorni, K., Kornberg, A., Kolski, H., Kuntz, N., Nevo, Y., Tesi-Rocha, C., Nagaraju, K., Rayavarapu, S., Hache, L. P., Mayhew, J. E., Florence, J., Hu, F., Arrieta, A., Henricson, E. & 2 othersLeshner, R. T. & Mah, J. K., Mar 20 2012, In : Neurology. 78, 12, p. 904-913 10 p.

Research output: Contribution to journalArticle

Pentoxifylline
Duchenne Muscular Dystrophy
Clinical Trials
Muscle Strength
Muscles
24 Citations

Pupillometry in congenital central hypoventilation syndrome (CCHS): Quantitative evidence of autonomic nervous system dysregulation

Patwari, P. P., Stewart, T. M., Rand, C. M., Carroll, M. S., Kuntz, N. L., Kenny, A. S., Brogadir, C. D. & Weese-Mayer, D. E., Mar 1 2012, In : Pediatric research. 71, 3, p. 280-285 6 p.

Research output: Contribution to journalArticle

Autonomic Nervous System
Homeobox Genes
Pupil
Constriction
Mutation

Unusual case of relapsing and remitting rash with progressive motor sensory neuropathy and spinal cord atrophy

Blackburn, J. S., Kuntz, N. L., Grimason, M. & Wainwright, M. S., Feb 1 2012, In : Journal of Child Neurology. 27, 2, p. 225-228 4 p.

Research output: Contribution to journalArticle

Alopecia
Peripheral Nervous System Diseases
Exanthema
Atrophy
Spinal Cord
2011
72 Citations

Common viruses associated with lower pediatric multiple sclerosis risk

Waubant, E., Mowry, E. M., Krupp, L., Chitnis, T., Yeh, E. A., Kuntz, N., Ness, J., Chabas, D., Strober, J., McDonald, J., Belman, A., Milazzo, M., Gorman, M., Weinstock-Guttman, B., Rodriguez, M., Oksenberg, J. R. & James, J. A., Jun 7 2011, In : Neurology. 76, 23, p. 1989-1995 7 p.

Research output: Contribution to journalArticle

Multiple Sclerosis
Pediatrics
Viruses
Human Herpesvirus 1
HLA-DRB1 Chains

Differential diagnosis of acquired CNS Demyelinating disorders in Children

Kuntz, NL. & Strober, J., 2011, Demyelinating Disorders of the Central Nervous System in Childhood.. Chabas, DE. & Waubant, EA. (eds.). Cambridge: Cambridge University Press

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citations

Differential diagnosis of multiple sclerosis and acquired central nervous system demyelinating disorders in children and adolescents

Kuntz, N. L. & Strober, J., Jan 1 2011, Demyelinating Disorders of the Central Nervous System in Childhood. Cambridge University Press, p. 58-74 17 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Central Nervous System Diseases
Demyelinating Diseases
Multiple Sclerosis
Differential Diagnosis
Pediatrics
7 Citations

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

Zimmerman, A., Clemens, P. R., Tesi-Rocha, C., Connolly, A., Iannaccone, S. T., Kuntz, N., Arrieta, A., Hache, L., Henricson, E., Hu, F., Mayhew, J. & Escolar, D. M., Aug 1 2011, In : Muscle and Nerve. 44, 2, p. 170-173 4 p.

Research output: Contribution to journalArticle

Pentoxifylline
Duchenne Muscular Dystrophy
Therapeutics
Safety
Leukopenia
51 Citations

Management of pediatric central nervous system demyelinating disorders: Consensus of United States neurologists

Waldman, A. T., Gorman, M. P., Rensel, M. R., Austin, T. E., Hertz, D. P. & Kuntz, N. L., Jun 1 2011, In : Journal of child neurology. 26, 6, p. 675-682 8 p.

Research output: Contribution to journalArticle

Central Nervous System Diseases
Demyelinating Diseases
Pediatrics
Physicians' Practice Patterns
Delphi Technique
68 Citations

Multiple sclerosis therapies in pediatric patients with refractory multiple sclerosis

Yeh, E. A., Waubant, E., Krupp, L. B., Ness, J., Chitnis, T., Kuntz, N., Ramanathan, M., Belman, A., Chabas, D., Gorman, M. P., Rodriguez, M., Rinker, J. R. & Weinstock-Guttman, B., Apr 1 2011, In : Archives of Neurology. 68, 4, p. 437-444 8 p.

Research output: Contribution to journalArticle

Multiple Sclerosis
Pediatrics
Therapeutics
Interferon-beta
Therapy
42 Citations

Neuronal voltage-gated potassium channel complex autoimmunity in children

Dhamija, R., Renaud, D. L., Pittock, S. J., McKeon, A., Lachance, D. H., Nickels, K. C., Wirrell, E. C., Kuntz, N. L., King, M. D. & Lennon, V. A., Apr 1 2011, In : Pediatric neurology. 44, 4, p. 275-281 7 p.

Research output: Contribution to journalArticle

Voltage-Gated Potassium Channels
Autoimmunity
Immunotherapy
Nervous System
Potassium Channels

Pediatric Multiple Sclerosis

Yeh, EA., Chitnis, T., Krupp, LB., Ness, JM., Chabas, DE., Kuntz, NL. & Waubant, EL., 2011, Primer on Multiple Sclerosis. Giesser, BS. (ed.). NY: Oxford University Press

Research output: Chapter in Book/Report/Conference proceedingChapter