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2020

Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study

The TSC Natural History Database Consortium, May 2020, In : Pediatric Neurology. 106, p. 10-16 7 p.

Research output: Contribution to journalArticle

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

The Undiagnosed Diseases Network, May 1 2020, In : Genetics in Medicine. 22, 5, p. 878-888 11 p.

Research output: Contribution to journalArticle

Light-Induced Amaurosis—A Case Report and Brief Literature Review

Tsai, J., Ramanan, B., Modrall, J. G., Hurd, P. W. & Tsai, S., Jan 1 2020, (Accepted/In press) In : Annals of Vascular Surgery.

Research output: Contribution to journalArticle

Limitations of cell-lineage-specific non-dynamic gene recombination in CD11c.Cre+ITGA4fl/fl mice

Manouchehri, N., Hussain, R. Z., Cravens, P. D., Doelger, R., Greenberg, B. M., Okuda, D. T., Forsthuber, T. G., Eagar, T. N. & Stüve, O., Jul 15 2020, In : Journal of Neuroimmunology. 344, 577245.

Research output: Contribution to journalArticle

Neural and non-neural contributions to ankle spasticity in children with cerebral palsy

Xu, D., Wu, Y. N., Gaebler-Spira, D., Gao, F., Clegg, N. J., Delgado, M. R. & Zhang, L. Q., Jan 1 2020, (Accepted/In press) In : Developmental Medicine and Child Neurology.

Research output: Contribution to journalArticle

Patient-specific factors modulate leukocyte response in dimethyl fumarate treated MS patients

Goldman, M. D., Dwyer, L., Coleman, R., Sohn, M. W. & Stuve, O., Jan 1 2020, In : PloS one. 15, 2, e0228617.

Research output: Contribution to journalArticle

Open Access
2019

An inhalable nanoparticulate STING agonist synergizes with radiotherapy to confer long-term control of lung metastases

Liu, Y., Crowe, W. N., Wang, L., Lu, Y., Petty, W. J., Habib, A. A. & Zhao, D., Dec 1 2019, In : Nature communications. 10, 1, 5108.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Cohesin complex-associated holoprosencephaly

Kruszka, P., Berger, S. I., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R., Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., Zonneveld-Huijssoon, E., Stephan, M. J., Hogue, J., Hu, P., Tanima-Nagai, M., Everson, J. L., Prasad, C., Cereda, A. & 15 others, Iascone, M., Schreiber, A., Zurcher, V., Corsten-Janssen, N., Escobar, L., Clegg, N. J., Delgado, M. R., Hajirnis, O., Balasubramanian, M., Kayserili, H., Deardorff, M., Poot, R. A., Wendt, K. S., Lipinski, R. J. & Muenke, M., Sep 1 2019, In : Brain. 142, 9, p. 2631-2643 13 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Development of a Pediatric Goal-Centered Upper Limb Spasticity Home Exercise Therapy Program for Use in a Phase-III Trial of Abobotulinumtoxina (Dysport ® )

Shierk, A., Jiménez-Moreno, A. C., Roberts, H., Ackerman-Laufer, S., Backer, G., Bard-Pondarre, R., Cekmece, C., Pyrzanowska, W., Vilain, C. & Delgado, M. R., Mar 4 2019, In : Physical and Occupational Therapy in Pediatrics. 39, 2, p. 124-135 12 p.

Research output: Contribution to journalArticle

1 Scopus citations

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Blackburn, A. T. M., Bekheirnia, N., Uma, V. C., Corkins, M. E., Xu, Y., Rosenfeld, J. A., Bainbridge, M. N., Yang, Y., Liu, P., Madan-Khetarpal, S., Delgado, M. R., Hudgins, L., Krantz, I., Rodriguez-Buritica, D., Wheeler, P. G., Gazali, L. A., Mohamed Saeed Mohamed Al Shamsi, A., Gomez-Ospina, N., Chao, H. T., Mirzaa, G. M. & 9 others, Scheuerle, A. E., Kukolich, M. K., Scaglia, F., Eng, C., Willsey, H. R., Braun, M. C., Lamb, D. J., Miller, R. K. & Bekheirnia, M. R., Dec 1 2019, In : Genetics in Medicine. 21, 12, p. 2755-2764 10 p.

Research output: Contribution to journalArticle

Effects of cladribine tablets on lymphocyte subsets in patients with multiple sclerosis: an extended analysis of surface markers

Stuve, O., Soelberg Soerensen, P., Leist, T., Giovannoni, G., Hyvert, Y., Damian, D., Dangond, F. & Boschert, U., Jun 1 2019, In : Therapeutic Advances in Neurological Disorders. 12

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Efficacy of EGFR plus TNF inhibition in a preclinical model of temozolomide-resistant glioblastoma

Guo, G., Gong, K., Puliyappadamba, V. T., Panchani, N., Pan, E., Mukherjee, B., Damanwalla, Z., Bharia, S., Hatanpaa, K. J., Gerber, D. E., Mickey, B. E., Patel, T. R., Sarkaria, J. N., Zhao, D., Burma, S. & Habib, A. A., Dec 1 2019, In : Neuro-oncology. 21, 12, p. 1529-1539 11 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Efficacy of Repeat AbobotulinumtoxinA (Dysport®) Injections in Improving Gait in Children with Spastic Cerebral Palsy

Dursun, N., Bonikowski, M., Dabrowski, E., Matthews, D., Gormley, M., Tilton, A., Carranza, J., Grandoulier, A. S., Picaut, P. & Delgado, M. R., Jan 1 2019, (Accepted/In press) In : Developmental Neurorehabilitation.

Research output: Contribution to journalArticle

Open Access
Open Access
10 Scopus citations

Radiation-induced DNA damage cooperates with heterozygosity of TP53 and PTEN to generate high-grade gliomas

Todorova, P. K., Fletcher-Sananikone, E., Mukherjee, B., Kollipara, R., Vemireddy, V., Xie, X. J., Guida, P. M., Story, M. D., Hatanpaa, K., Habib, A. A., Kittler, R., Bachoo, R., Hromas, R., Floyd, J. R. & Burma, S., Jan 1 2019, In : Cancer research. 79, 14, p. 3749-3761 13 p.

Research output: Contribution to journalArticle

3 Scopus citations

Simplification of combination antiretroviral therapy (cART) and the brain—a real-life experience

Arendt, G., Schlonies, S., Orhan, E. & Stuve, O., Jan 1 2019, (Accepted/In press) In : Journal of NeuroVirology.

Research output: Contribution to journalArticle

2 Scopus citations

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease

Chen, W., Lin, J., Wang, L., Li, X., Zhao, S., Liu, J., Akdemir, Z. C., Zhao, Y., Du, R., Ye, Y., Song, X., Zhang, Y., Yan, Z., Yang, X., Lin, M., Shen, J., Wang, S., Gao, N., Yang, Y., Liu, Y. & 16 others, Li, W., Liu, J., Zhang, N., Yang, X., Xu, Y., Zhang, J., Delgado, M. R., Posey, J. E., Qiu, G., Rios, J. J., Liu, P., Wise, C. A., Zhang, F., Wu, Z., Lupski, J. R. & Wu, N., Jan 1 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

2 Scopus citations

α4-integrin deficiency in B cells does not affect disease in a T-cell-mediated EAE disease model

Hussain, R. Z., Cravens, P. D., Miller-Little, W. A., Doelger, R., Granados, V., Herndon, E., Okuda, D. T., Eagar, T. N. & Stüve, O., Jul 1 2019, In : Neurology: Neuroimmunology and NeuroInflammation. 6, 4, e563.

Research output: Contribution to journalArticle

Open Access
2018

AbobotulinumtoxinA Efficacy and Safety in Children With Equinus Foot Previously Treated With Botulinum Toxin

Dabrowski, E., Bonikowski, M., Gormley, M., Volteau, M., Picaut, P. & Delgado, M. R., Jan 1 2018, (Accepted/In press) In : Pediatric Neurology.

Research output: Contribution to journalArticle

1 Scopus citations

Defining standard enzymatic dissociation methods for individual brains and spinal cords in EAE

Hussain, R. Z., Miller-Little, W. A., Doelger, R., Cutter, G. R., Loof, N., Cravens, P. D. & Stüve, O., Mar 1 2018, In : Neurology: Neuroimmunology and NeuroInflammation. 5, 2, e437.

Research output: Contribution to journalArticle

5 Scopus citations

Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: Final 4-year results from the randomized EXIST-1 and EXIST-2 studies

Franz, D. N., Budde, K., Kingswood, J. C., Belousova, E., Sparagana, S., de Vries, P. J., Berkowitz, N., Ridolfi, A. & Bissler, J. J., Jan 1 2018, (Accepted/In press) In : Journal of the European Academy of Dermatology and Venereology.

Research output: Contribution to journalArticle

6 Scopus citations

Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex the TREATMENT randomized clinical trial

TREATMENT Trial Collaborators, Jul 1 2018, In : JAMA Dermatology. 154, 7, p. 773-780 8 p.

Research output: Contribution to journalArticle

23 Scopus citations

Epilepsy treatment patterns among patients with tuberous sclerosis complex

Song, J., Swallow, E., Said, Q., Peeples, M., Meiselbach, M., Signorovitch, J., Kohrman, M., Korf, B., Krueger, D., Wong, M. & Sparagana, S., Aug 15 2018, In : Journal of the Neurological Sciences. 391, p. 104-108 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Genetic and epigenetic features of rapidly progressing IDH-mutant astrocytomas

Richardson, T. E., Sathe, A. A., Kanchwala, M., Jia, G., Habib, A. A., Xiao, G., Snuderl, M., Xing, C. & Hatanpaa, K. J., Jan 1 2018, In : Journal of Neuropathology and Experimental Neurology. 77, 7, p. 542-548 7 p.

Research output: Contribution to journalArticle

7 Scopus citations

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

Jia, X., Madireddy, L., Caillier, S., Santaniello, A., Esposito, F., Comi, G., Stuve, O., Zhou, Y., Taylor, B., Kilpatrick, T., Martinelli-Boneschi, F., Cree, B. A. C., Oksenberg, J. R., Hauser, S. L. & Baranzini, S. E., Jul 2018, In : Annals of Neurology. 84, 1, p. 51-63 13 p.

Research output: Contribution to journalArticle

7 Scopus citations

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Weiss, K., Kruszka, P., Guillen Sacoto, M. J., Addissie, Y. A., Hadley, D. W., Hadsall, C. K., Stokes, B., Hu, P., Roessler, E., Solomon, B., Wiggs, E., Thurm, A., Hufnagel, R. B., Zein, W. M., Hahn, J. S., Stashinko, E., Levey, E., Baldwin, D., Clegg, N. J., Delgado, M. R. & 1 others, Muenke, M., Jan 1 2018, In : Genetics in Medicine. 20, 1, p. 14-23 10 p.

Research output: Contribution to journalArticle

9 Scopus citations

MRI evaluation of the effects of whole brain radiotherapy on breast cancer brain metastasis

Crowe, W., Wang, L., Zhang, Z., Varagic, J., Bourland, J. D., Chan, M. D., Habib, A. A. & Zhao, D., Jan 1 2018, (Accepted/In press) In : International Journal of Radiation Biology.

Research output: Contribution to journalArticle

2 Scopus citations

Natalizumab: Perspectives from the bench to bedside

Shirani, A. & Stuve, O., Dec 1 2018, In : Cold Spring Harbor Perspectives in Medicine. 8, 12, a029066.

Research output: Contribution to journalArticle

2 Scopus citations

PDCB does not promote CNS autoimmunity in the context of genetic susceptibility but worsens its outcome

Dubey, D., Hussain, R. Z., Miller-Little, W. A., Salter, A., Doelger, R. & Stüve, O., Oct 15 2018, In : Journal of Neuroimmunology. 323, p. 53-55 3 p.

Research output: Contribution to journalArticle

1 Scopus citations

Presenilin1 regulates Th1 and Th17 effector responses but is not required for experimental autoimmune encephalomyelitis

Cummings, M., Arumanayagam, A. C. S., Zhao, P., Kannanganat, S., Stuve, O., Karandikar, N. J. & Eagar, T. N., Aug 2018, In : PloS one. 13, 8, e0200752.

Research output: Contribution to journalArticle

Similar biophysical abnormalities in glomeruli and podocytes from two distinct models

Embry, A. E., Liu, Z., Henderson, J. M., Byfield, F. J., Liu, L., Yoon, J., Wu, Z., Cruz, K., Moradi, S., Gillombardo, C. B., Hussain, R. Z., Doelger, R., Stuve, O., Chang, A. N., Janmey, P. A., Bruggeman, L. A. & Miller, R. T., May 2018, In : Journal of the American Society of Nephrology. 29, 5, p. 1501-1512 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

Siponimod versus placebo in secondary progressive multiple sclerosis (EXPAND): a double-blind, randomised, phase 3 study

EXPAND Clinical Investigators, Mar 31 2018, In : The Lancet. 391, 10127, p. 1263-1273 11 p.

Research output: Contribution to journalArticle

150 Scopus citations

The role of B cells in multiple sclerosis: Current and future therapies

Negron, A., Robinson, R. R., Stuve, O. & Forsthuber, T. G., Jan 1 2018, (Accepted/In press) In : Cellular Immunology.

Research output: Contribution to journalArticle

3 Scopus citations

TLR3 agonism re-establishes CNS immune competence during α4-integrin deficiency

Hussain, R. Z., Cravens, P. C., Doelger, R., Dentel, B., Herndon, E., Loof, N., Tsai, P., Okuda, D., Racke, M. K. & Stuve, O., Jan 1 2018, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

TNF-driven adaptive response mediates resistance to EGFR inhibition in lung cancer

Gong, K., Guo, G., Gerber, D. E., Gao, B., Peyton, M., Huang, C., Minna, J. D., Hatanpaa, K. J., Kernstine, K., Cai, L., Xie, Y., Zhu, H., Fattah, F. J., Zhang, S., Takahashi, M., Mukherjee, B., Burma, S., Dowell, J., Dao, K., Papadimitrakopoulou, V. A. & 4 others, Olivas, V., Bivona, T. G., Zhao, D. & Habib, A. A., Jun 1 2018, In : Journal of Clinical Investigation. 128, 6, p. 2500-2518 19 p.

Research output: Contribution to journalArticle

15 Scopus citations

Toe Walking: A Neurological Perspective After Referral From Pediatric Orthopaedic Surgeons

Haynes, K. B., Wimberly, R. L., VanPelt, J. M., Jo, C. H., Riccio, A. I. & Delgado, M. R., Jan 18 2018, (Accepted/In press) In : Journal of Pediatric Orthopaedics.

Research output: Contribution to journalArticle

3 Scopus citations
2017

AbobotulinumtoxinA (Dysport®) improves function according to goal attainment in children with dynamic equinus due to cerebral palsy

Tilton, A., Russman, B., Aydin, R., Dincer, U., Escobar, R. G., Kutlay, S., Lipczyk, Z., Velez, J. C., Grandoulier, A. S., Tse, A., Picaut, P. & Delgado, M. R., 2017, In : Journal of Child Neurology. 32, 5, p. 482-487 6 p.

Research output: Contribution to journalArticle

7 Scopus citations

A TNF-JNK-Axl-ERK signaling axis mediates primary resistance to EGFR inhibition in glioblastoma

Guo, G., Gong, K., Ali, S., Ali, N., Shallwani, S., Hatanpaa, K. J., Pan, E., Mickey, B., Burma, S., Wang, D. H., Kesari, S., Sarkaria, J. N., Zhao, D. & Habib, A. A., Aug 1 2017, In : Nature Neuroscience. 20, 8, p. 1074-1084 11 p.

Research output: Contribution to journalArticle

36 Scopus citations

Biallelic mutations in human DCC cause developmental split-brain syndrome

Jamuar, S. S., Schmitz-Abe, K., D'Gama, A. M., Drottar, M., Chan, W. M., Peeva, M., Servattalab, S., Lam, A. T. N., Delgado, M. R., Clegg, N. J., Zayed, Z. A., Dogar, M. A., Alorainy, I. A., Jamea, A. A., Abu-Amero, K., Griebel, M., Ward, W., Lein, E. S., Markianos, K., Barkovich, A. J. & 6 others, Robson, C. D., Grant, P. E., Bosley, T. M., Engle, E. C., Walsh, C. A. & Yu, T. W., Mar 30 2017, In : Nature genetics. 49, 4, p. 606-612 7 p.

Research output: Contribution to journalArticle

21 Scopus citations

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Peng, Y., Shinde, D. N., Valencia, C. A., Mo, J. S., Rosenfeld, J., Cho, M. T., Chamberlin, A., Li, Z., Liu, J., Gui, B., Brockhage, R., Basinger, A., Alvarez-Leon, B., Heydemann, P., Magoulas, P. L., Lewis, A. M., Scaglia, F., Gril, S., Chong, S. C., Bower, M. & 22 others, Monaghan, K. G., Willaert, R., Plona, M. R., Dineen, R., Milan, F., Hoganson, G., Powis, Z., Helbig, K. L., Keller-Ramey, J., Harris, B., Anderson, L. C., Green, T., Sukoff Rizzo, S. J., Kaylor, J., Chen, J., Guan, M. X., Sellars, E., Sparagana, S. P., Gibson, J. B., Reinholdt, L. G., Tang, S. & Huang, T., Dec 1 2017, In : Human Molecular Genetics. 26, 24, p. 4937-4950 14 p.

Research output: Contribution to journalArticle

8 Scopus citations

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Members of the UDN, Jul 1 2017, In : PLoS Genetics. 13, 7, e1006905.

Research output: Contribution to journalArticle

21 Scopus citations
25 Scopus citations

High-dose immunosuppressive therapy and autologous HCT for relapsing-remitting MS

Nash, R. A., Hutton, G. J., Racke, M. K., Popat, U., Devine, S. M., Steinmiller, K. C., Griffith, L. M., Muraro, P. A., Openshaw, H., Sayre, P. H., Stuve, O., Arnold, D. L., Wener, M. H., Georges, G. E., Wundes, A., Kraft, G. H. & Bowen, J. D., Feb 28 2017, In : Neurology. 88, 9, p. 842-852 11 p.

Research output: Contribution to journalArticle

53 Scopus citations

Interleukin-13 receptor alpha 2 cooperates with EGFRvIII signaling to promote glioblastoma multiforme

Newman, J. P., Wang, G. Y., Arima, K., Guan, S. P., Waters, M. R., Cavenee, W. K., Pan, E., Aliwarga, E., Chong, S. T., Kok, C. Y. L., Endaya, B. B., Habib, A. A., Horibe, T., Ng, W. H., Ho, I. A. W., Hui, K. M., Kordula, T. & Lam, P. Y. P., Dec 1 2017, In : Nature communications. 8, 1, 1913.

Research output: Contribution to journalArticle

18 Scopus citations

Laquinimod has no effects on brain volume or cellular CNS composition in the F1 3xTg-AD/C3H mouse model of Alzheimer's disease

Hussain, R. Z., Miller-Little, W. A., Lambracht-Washington, D., Jaramillo, T. C., Takahashi, M., Zhang, S., Fu, M., Cutter, G. R., Hayardeny, L., Powell, C. M., Rosenberg, R. N. & Stüve, O., Aug 15 2017, In : Journal of Neuroimmunology. 309, p. 100-110 11 p.

Research output: Contribution to journalArticle

4 Scopus citations

Natalizumab for multiple sclerosis: A case in point for the impact of translational neuroimmunology

Shirani, A. & Stüve, O., Feb 15 2017, In : Journal of Immunology. 198, 4, p. 1381-1386 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

Normal intrathecal leukocyte cell number and composition do not decrease the incidence of post–lumbar puncture headache

Stüve, O., Cataldi, F., Pradhan, V. & Gorelick, K. J., Sep 15 2017, In : Journal of Neuroimmunology. 310, p. 69-71 3 p.

Research output: Contribution to journalArticle

1 Scopus citations

Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex

Sparagana, S., Franz, D. N., Krueger, D. A., Bissler, J. J., Berkowitz, N., Burock, K. & Kingswood, J. C., Oct 1 2017, In : PLoS One. 12, 10, e0186235.

Research output: Contribution to journalArticle

3 Scopus citations

Rapid progression to glioblastoma in a subset of IDH-mutated astrocytomas: a genome-wide analysis

Richardson, T. E., Snuderl, M., Serrano, J., Karajannis, M. A., Heguy, A., Oliver, D., Raisanen, J. M., Maher, E. A., Pan, E., Barnett, S., Cai, C., Habib, A. A., Bachoo, R. M. & Hatanpaa, K. J., May 1 2017, In : Journal of Neuro-Oncology. 133, 1, p. 183-192 10 p.

Research output: Contribution to journalArticle

12 Scopus citations

Safety and Efficacy of Repeat Open-Label AbobotulinumtoxinA Treatment in Pediatric Cerebral Palsy

Delgado, M. R., Bonikowski, M., Carranza, J., Dabrowski, E., Matthews, D., Russman, B., Tilton, A., Velez, J. C., Grandoulier, A. S. & Picaut, P., Nov 1 2017, In : Journal of Child Neurology. 32, 13, p. 1058-1064 7 p.

Research output: Contribution to journalArticle

11 Scopus citations