Neurology & Neurotherapeutics - NE Outside Agreements

Research Output

2020
Open Access

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (Genetics in Medicine, (2019), 21, 12, (2755-2764), 10.1038/s41436-019-0576-0)

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., Al-Gazali, L., Shamsi, A. M. S. M. 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., Apr 1 2020, In : Genetics in Medicine. 22, 4, 1 p.

Research output: Contribution to journalComment/debate

Open Access

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis (Frontiers in Neuroscience, (2019), 13, 10.3389/fnins.2019.00394)

Kennedy, A. D., Pappan, K. L., Donti, T., Delgado, M. R., Shinawi, M., Pearson, T. S., Lalani, S. R., Craigen, W. J., Sutton, V. R., Evans, A. M., Sun, Q., Emrick, L. T. & Elsea, S. H., Jan 29 2020, In : Frontiers in Neuroscience. 13, 1344.

Research output: Contribution to journalComment/debate

Open Access

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

3 Scopus citations

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

1 Scopus citations

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

Tsai, J., Ramanan, B., Modrall, J. G., Hurd, P. W. & Tsai, S., Jul 2020, In : Annals of Vascular Surgery. 66, p. 671.e1-671.e4

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

Open Access

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

1 Scopus citations

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

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

Research output: Contribution to journalArticle

Open Access

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 2020, In : Human mutation. 41, 1, p. 182-195 14 p.

Research output: Contribution to journalArticle

3 Scopus citations

The temporal and causal relationship between inflammation and neurodegeneration in multiple sclerosis

Milo, R., Korczyn, A. D., Manouchehri, N. & Stüve, O., Jul 1 2020, In : Multiple Sclerosis Journal. 26, 8, p. 876-886 11 p.

Research output: Contribution to journalReview article

2 Scopus citations
2019

2-Pyrrolidinone and succinimide as clinical screening biomarkers for gaba-transaminase deficiency: Anti-seizure medications impact accurate diagnosis

Kennedy, A. D., Pappan, K. L., Donti, T., Delgado, M. R., Shinawi, M., Pearson, T. S., Lalani, S. R., Craigen, W. E., Sutton, V. R., Evans, A. M., Sun, Q., Emrick, L. T. & Elsea, S. H., 2019, In : Frontiers in Neuroscience. 13, MAY, 394.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

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
6 Scopus citations

Clinical trials in multiple sclerosis: potential future trial designs

Manouchehri, N., Zhang, Y., Salter, A., Hussain, R. Z., Hartung, H. P., Hemmer, B., Linker, R., Segal, B. M., Cutter, G. & Stüve, O., May 1 2019, In : Therapeutic Advances in Neurological Disorders. 12

Research output: Contribution to journalReview article

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
7 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

1 Scopus citations

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
6 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., 2019, (Accepted/In press) In : Developmental Neurorehabilitation.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Evolution of clinical trials in multiple sclerosis

Zhang, Y., Salter, A., Wallström, E., Cutter, G. & Stüve, O., Feb 1 2019, In : Therapeutic Advances in Neurological Disorders. 12

Research output: Contribution to journalReview article

5 Scopus citations

Immunological aspects of approved MS therapeutics

Rommer, P. S., Milo, R., Han, M. H., Satyanarayan, S., Sellner, J., Hauer, L., Illes, Z., Warnke, C., Laurent, S., Weber, M. S., Zhang, Y. & Stuve, O., 2019, In : Frontiers in immunology. 10, JULY, 1564.

Research output: Contribution to journalReview article

Open Access
14 Scopus citations

MAdCAM-1-Mediated Intestinal Lymphocyte Homing Is Critical for the Development of Active Experimental Autoimmune Encephalomyelitis

Kuhbandner, K., Hammer, A., Haase, S., Terbrack, E., Hoffmann, A., Schippers, A., Wagner, N., Hussain, R. Z., Miller-Little, W. A., Koh, A., Stoolman, J. S., Segal, B. M., Linker, R. A. & Stuve, O., Jan 1 2019, In : Frontiers in immunology. 10, 1 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Mutation update for the SATB2 gene

Zarate, Y. A., Bosanko, K. A., Caffrey, A. R., Bernstein, J. A., Martin, D. M., Williams, M. S., Berry-Kravis, E. M., Mark, P. R., Manning, M. A., Bhambhani, V., Vargas, M., Seeley, A. H., Estrada-Veras, J. I., van Dooren, M. F., Schwab, M., Vanderver, A., Melis, D., Alsadah, A., Sadler, L., Van Esch, H. & 28 others, Callewaert, B., Oostra, A., Maclean, J., Dentici, M. L., Orlando, V., Lipson, M., Sparagana, S. P., Maarup, T. J., Alsters, S. I. M., Brautbar, A., Kovitch, E., Naidu, S., Lees, M., Smith, D. M., Turner, L., Raggio, V., Spangenberg, L., Garcia-Miñaúr, S., Roeder, E. R., Littlejohn, R. O., Grange, D., Pfotenhauer, J., Jones, M. C., Balasubramanian, M., Martinez-Monseny, A., Blok, L. S., Gavrilova, R. & Fish, J. L., 2019, In : Human mutation. 40, 8, p. 1013-1029 17 p.

Research output: Contribution to journalArticle

4 Scopus citations

Neurofilament light chain: An important step toward a disease biomarker in multiple sclerosis

Berger, T. & Stuve, O., Mar 5 2019, In : Neurology. 92, 10, p. 451-452 2 p.

Research output: Contribution to journalEditorial

3 Scopus citations
Open Access
12 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., 2019, In : Cancer research. 79, 14, p. 3749-3761 13 p.

Research output: Contribution to journalArticle

4 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

Spinal cord involvement in multiple sclerosis and neuromyelitis optica spectrum disorders

International Conference on Spinal Cord Involvement and Imaging in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders, Feb 2019, In : The Lancet Neurology. 18, 2, p. 185-197 13 p.

Research output: Contribution to journalReview article

23 Scopus citations

Trials and therapies in secondary progressive MS, simplified

Manouchehri, N. & Stüve, O., Aug 1 2019, In : Nature Reviews Neurology. 15, 8, p. 431-432 2 p.

Research output: Contribution to journalComment/debate

1 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

B cell-based therapies in CNS autoimmunity: differentiating CD19 and CD20 as therapeutic targets

Forsthuber, T. G., Cimbora, D. M., Ratchford, J. N., Katz, E. & Stüve, O., Jan 1 2018, In : Therapeutic Advances in Neurological Disorders. 11

Research output: Contribution to journalReview article

16 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

7 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

27 Scopus citations

Emerging drugs for primary progressive multiple sclerosis

Narayan, R. N., Forsthuber, T. & Stüve, O., Apr 3 2018, In : Expert Opinion on Emerging Drugs. 23, 2, p. 97-110 14 p.

Research output: Contribution to journalReview article

6 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

3 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., 2018, In : Journal of neuropathology and experimental neurology. 77, 7, p. 542-548 7 p.

Research output: Contribution to journalArticle

8 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

9 Scopus citations

H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome

Delgado, M. R. & Gonzalez-Castillo, Z., Feb 1 2018, In : Neuropediatrics. 49, 1, p. 76-77 2 p.

Research output: Contribution to journalShort survey

1 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

4 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

5 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

163 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

4 Scopus citations