Neurology & Neurotherapeutics - NE Outside Agreements

Research output

Research output per year 1984 2006 2007 2008 2009 2010 2011 2013 2014 2015 2016 2017 2018 2023

• 278 Article
• 114 Review article
• 21 Editorial
• 19 Letter
• 31 More
  • 13 Comment/debate
  • 8 Conference contribution
  • 6 Short survey
  • 4 Chapter

Research output per year

Research output per year

Search results

• 2023

  RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation

  Rios, J. J., Li, Y., Paria, N., Bohlender, R. J., Huff, C., Rosenfeld, J. A., Liu, P., Bi, W., Haga, K., Fukuda, M., Vashisth, S., Kaur, K., Chahrour, M. H., Bober, M. B., Duker, A. L., Ladha, F. A., Hanchard, N. A., Atala, K., Khanshour, A. M., Smith, L., & 2 othersWise, C. A. & Delgado, M. R., Dec 7 2023, In: American Journal of Human Genetics. 110, 12, p. 2103-2111 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Haploinsufficiency 100%
  • Muscle Spasticity 94%
  • Missense Mutation 40%
  • Neurocognitive Disorders 26%
  • Language Development Disorders 26%
  1 Scopus citations

• Therapy together: A caregiver led constraint induced movement therapy program for preschool aged children utilizing a virtual environment due to COVID 19

  Shierk, A., Roberts, H., Dubberly, K., Clegg, N. J., Fagan, M., Baldwin, D., Reyes, F., VanPelt, J. & Delgado, M. R., 2023, In: Journal of Occupational Therapy, Schools, and Early Intervention. 16, 1, p. 39-50 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Preschool Children 100%
  • caregiver 77%
  • Caregivers 77%
  • Cerebral Palsy 63%
  • Hand 45%
  1 Scopus citations
• 2022

  Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

  Gofin, Y., Wang, T., Gillentine, M. A., Scott, T. M., Berry, A. M., Azamian, M. S., Genetti, C., Agrawal, P. B., Picker, J., Wojcik, M. H., Delgado, M. R., Lynch, S. A., Scherer, S. W., Howe, J. L., Bacino, C. A., DiTroia, S., VanNoy, G. E., O'Donnell-Luria, A., Lalani, S. R., Graf, W. D., & 4 othersRosenfeld, J. A., Eichler, E. E., Earl, R. K. & Scott, D. A., Apr 2022, In: Human mutation. 43, 4, p. 461-470 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Haploinsufficiency 100%
  • Autism Spectrum Disorder 80%
  • Intellectual Disability 49%
  • Nonsense Mediated mRNA Decay 39%
  • Neurodevelopmental Disorders 30%
  5 Scopus citations

• Goal Attainment after Treatment with Abobotulinumtoxina and A Tailored Home Therapy Programme in Children with Upper Limb Spasticity: Descriptive, Exploratory Analysis of A Large Randomized, Controlled StudyA

  Carranza-Del Río, J., Dursun, N., Cekmece, C., Bonikowski, M., Pyrzanowska, W., Dabrowski, E., Tilton, A., Oleszek, J., Volteau, M., Page, S., Shierk, A. & Delgado, M. R., Dec 9 2022, In: Journal of Rehabilitation Medicine. 54, p. jrm00349

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • abobotulinumtoxinA 100%
  • Upper Extremity 57%
  • Child 27%
  • Exercise Therapy 17%
  • Therapeutics 10%

• Improved Hand Function in Children with Cerebral Palsy with Repeat Doses of Group Based Hybrid Pediatric Constraint-Induced Movement Therapy

  Roberts, H., Shierk, A., Alfonso, A. J., Yeatts, P., DeJong, T. L., Clegg, N. J., Baldwin, D. & Delgado, M. R., Jun 2022, In: Disabilities. 2, 2, p. 365-378 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cerebral Palsy 100%
  • Hand 72%
  • Pediatrics 61%
  • Child 41%
  • Group 28%

• Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies

  Chen, C. A., Lattier, J., Zhu, W., Rosenfeld, J., Wang, L., Scott, T. M., Du, H., Patel, V., Dang, A., Magoulas, P., Streff, H., Sebastian, J., Svihovec, S., Curry, K., Delgado, M. R., Hanchard, N. A., Lalani, S., Marom, R., Madan-Khetarpal, S., Saenz, M., & 11 othersDai, H., Meng, L., Xia, F., Bi, W., Liu, P., Posey, J. E., Scott, D. A., Lupski, J. R., Eng, C. M., Xiao, R. & Yuan, B., Feb 2022, In: Genetics in Medicine. 24, 2, p. 364-373 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Exome 100%
  • Genes 33%
  • Coffin-Siris syndrome 22%
  • Genotype 17%
  • Neurodevelopmental Disorders 13%
  10 Scopus citations

• The Observational Gait Scale Can Help Determine the GMFCS Level in Children With Cerebral Palsy

  Zapata, K. A., Rushing, C. L., Delgado, M. R. & Jo, C., Jan 1 2022, In: Pediatric Physical Therapy. 34, 1, p. 23-26 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cerebral Palsy 100%
  • Gait 91%
  • Child 41%
  • Walking 9%
  • Multivariate Analysis 7%
• 2021

  Efficacy and safety of abobotulinumtoxinA for upper limb spasticity in children with cerebral palsy: a randomized repeat-treatment study

  the Dysport in PUL study group, May 2021, In: Developmental Medicine and Child Neurology. 63, 5, p. 592-600 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • abobotulinumtoxinA 100%
  • Cerebral Palsy 65%
  • Upper Extremity 57%
  • Safety 36%
  • Child 27%
  22 Scopus citations

• Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

  Hansen, A. W., Arora, P., Khayat, M. M., Smith, L. J., Lewis, A. M., Rossetti, L. Z., Jayaseelan, J., Cristian, I., Haynes, D., DiTroia, S., Meeks, N., Delgado, M. R., Rosenfeld, J. A., Pais, L., White, S. M., Meng, Q., Pehlivan, D., Liu, P., Gingras, M. C., Wangler, M. F., & 4 othersMuzny, D. M., Lupski, J. R., Kaplan, C. D. & Gibbs, R. A., Jan 14 2021, In: Human Genetics and Genomics Advances. 2, 1, 100014.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Germ-Line Mutation 100%
  • Skin Abnormalities 64%
  • Joint Instability 57%
  • Lakes 55%
  • Hip Dislocation 54%
  15 Scopus citations

• Muscle Selection and Dosing in a Phase 3, Pivotal Study of AbobotulinumtoxinA Injection in Upper Limb Muscles in Children With Cerebral Palsy

  the Dysport in PUL study group, Oct 29 2021, In: Frontiers in Neurology. 12, 728615.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • abobotulinumtoxinA 100%
  • Cerebral Palsy 65%
  • Upper Extremity 57%
  • Muscles 37%
  • Injections 35%
  2 Scopus citations

• Persistent severe lymphopenia 5 years after dimethyl fumarate discontinuation

  Caldito, N. G., O’Leary, S. & Stuve, O., Jul 2021, In: Multiple Sclerosis Journal. 27, 8, p. 1306-1308 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Dimethyl Fumarate 100%
  • Lymphopenia 78%
  • Withholding Treatment 15%
  • Lymphocyte Count 13%
  • Observation 9%
  5 Scopus citations
• 2020

  Constraint Induced Movement Therapy Camp for Children with Hemiplegic Cerebral Palsy Augmented by Use of an Exoskeleton to Play Games in Virtual Reality

  Roberts, H., Shierk, A., Clegg, N. J., Baldwin, D., Smith, L., Yeatts, P. & Delgado, M. R., 2020, In: Physical and Occupational Therapy in Pediatrics. 41, 2, p. 150-165 16 p.

  Research output: Contribution to journal › Article › peer-review

  • Virtual Reality 100%
  • Cerebral Palsy 86%
  • Pediatrics 52%
  • Hand 49%
  • Child 35%
  19 Scopus citations

• Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

  Ebrahimi-Fakhari, D., Teinert, J., Behne, R., Wimmer, M., D'Amore, A., Eberhardt, K., Brechmann, B., Ziegler, M., Jensen, D. M., Nagabhyrava, P., Geisel, G., Carmody, E., Shamshad, U., Dies, K. A., Yuskaitis, C. J., Salussolia, C. L., Ebrahimi-Fakhari, D., Pearson, T. S., Saffari, A., Ziegler, A., & 68 othersKölker, S., Volkmann, J., Wiesener, A., Bearden, D. R., Lakhani, S., Segal, D., Udwadia-Hegde, A., Martinuzzi, A., Hirst, J., Perlman, S., Takiyama, Y., Xiromerisiou, G., Vill, K., Walker, W. O., Shukla, A., Dubey Gupta, R., Dahl, N., Aksoy, A., Verhelst, H., Delgado, M. R., Kremlikova Pourova, R., Sadek, A. A., Elkhateeb, N. M., Blumkin, L., Brea-Fernández, A. J., Dacruz-Álvarez, D., Smol, T., Ghoumid, J., Miguel, D., Heine, C., Schlump, J. U., Langen, H., Baets, J., Bulk, S., Darvish, H., Bakhtiari, S., Kruer, M. C., Lim-Melia, E., Aydinli, N., Alanay, Y., El-Rashidy, O., Nampoothiri, S., Patel, C., Beetz, C., Bauer, P., Yoon, G., Guillot, M., Miller, S. P., Bourinaris, T., Houlden, H., Robelin, L., Anheim, M., Alamri, A. S., Mahmoud, A. A. H., Inaloo, S., Habibzadeh, P., Faghihi, M. A., Jansen, A. C., Brock, S., Roubertie, A., Darras, B. T., Agrawal, P. B., Santorelli, F. M., Gleeson, J., Zaki, M. S., Sheikh, S. I., Bennett, J. T. & Sahin, M., Oct 1 2020, In: Brain. 143, 10, p. 2929-2944 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adaptor Protein Complex 4 100%
  • Hereditary Spastic Paraplegia 71%
  • Molecular Imaging 56%
  • Colpocephaly 15%
  • Epilepsy 13%
  37 Scopus citations

• Duration of Symptom Relief Between Injections for AbobotulinumtoxinA (Dysport®) in Spastic Paresis and Cervical Dystonia: Comparison of Evidence From Clinical Studies

  Esquenazi, A., Delgado, M. R., Hauser, R. A., Picaut, P., Foster, K., Lysandropoulos, A. & Gracies, J. M., Sep 25 2020, In: Frontiers in Neurology. 11, 576117.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • abobotulinumtoxinA 100%
  • Torticollis 83%
  • Retreatment 76%
  • Muscle Spasticity 76%
  • Paresis 66%
  12 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., Aug 17 2020, In: Developmental Neurorehabilitation. 23, 6, p. 368-374 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • abobotulinumtoxinA 100%
  • Cerebral Palsy 65%
  • Gait 59%
  • Injections 35%
  • Placebos 28%
  7 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 journal › Article › peer-review

  Open Access

  • Neurodevelopmental Disorders 100%
  • Megalencephaly 80%
  • Muscle Hypotonia 68%
  • Immunoprecipitation 55%
  • Intellectual Disability 53%
  21 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 journal › Article › peer-review

  • Carotid Artery Diseases 100%
  • Light 58%
  • Blindness 56%
  • Amaurosis Fugax 42%
  • Carotid Endarterectomy 32%

• 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., Sep 1 2020, In: Developmental Medicine and Child Neurology. 62, 9, p. 1040-1046 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Stretch Reflex 100%
  • Cerebral Palsy 80%
  • Ankle 71%
  • Torque 41%
  • Child 33%
  8 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 othersLi, 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 journal › Article › peer-review

  Open Access

  • Scoliosis 100%
  • Alleles 67%
  • Exome 55%
  • Gene Dosage 55%
  • Genetic Models 51%
  25 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 journal › Article › peer-review

  Open Access

  • Gamma aminobutyric acid transaminase deficiency 100%
  • succinimide 81%
  • 2-pyrrolidone 80%
  • Post-Traumatic Epilepsy 72%
  • Metabolomics 34%
  22 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 othersIascone, 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 journal › Article › peer-review

  Open Access

  • Holoprosencephaly 100%
  • cohesins 98%
  • Prosencephalon 44%
  • X-Linked Genes 35%
  • Neurulation 20%
  41 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 journal › Article › peer-review

  • abobotulinumtoxinA 100%
  • Exercise Therapy 75%
  • Upper Extremity 57%
  • Pediatrics 40%
  • Exercise 30%
  8 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 othersScheuerle, 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 journal › Article › peer-review

  Open Access

  • Cakut 100%
  • Intellectual Disability 56%
  • Genitalia 55%
  • Nephrons 27%
  • Xenopus 25%
  16 Scopus citations

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

  Arendt, G., Schlonies, S., Orhan, E. & Stüve, O., Apr 15 2019, In: Journal of NeuroVirology. 25, 2, p. 174-182 9 p.

  Research output: Contribution to journal › Article › peer-review

  • HIV 100%
  • Lamivudine 70%
  • Therapeutics 56%
  • Viral Load 56%
  • Big Data 39%
  6 Scopus citations

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

  Negron, A., Robinson, R. R., Stuve, O. & Forsthuber, T. G., May 2019, In: Cellular Immunology. 339, p. 10-23 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Multiple Sclerosis 100%
  • B-Lymphocytes 87%
  • B-Lymphocyte Subsets 35%
  • Rituximab 30%
  • Cell- and Tissue-Based Therapy 26%
  25 Scopus citations
• 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., May 2018, In: Pediatric Neurology. 82, p. 44-49 6 p.

  Research output: Contribution to journal › Article › peer-review

  • abobotulinumtoxinA 100%
  • Botulinum Toxins 74%
  • Foot 52%
  • Safety 36%
  • Child 27%
  3 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 journal › Article › peer-review

  Open Access

  • Autoimmune Experimental Encephalomyelitis 100%
  • Spinal Cord 69%
  • Brain 41%
  • Inbred C57BL Mouse 34%
  • Cell Count 27%
  10 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., Oct 2018, In: Journal of the European Academy of Dermatology and Venereology. 32, 10, p. 1796-1803 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Angiomyolipoma 100%
  • Everolimus 93%
  • Tuberous Sclerosis 92%
  • Astrocytoma 82%
  • Skin 40%
  27 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 2018, In: JAMA Dermatology. 154, 7, p. 773-780 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Angiofibroma 100%
  • Tuberous Sclerosis 86%
  • Sirolimus 73%
  • Randomized Controlled Trials 46%
  • Safety 40%
  72 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 journal › Article › peer-review

  • Tuberous Sclerosis 100%
  • Epilepsy 67%
  • Pharmaceutical Preparations 22%
  • Therapeutics 13%
  • Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11%
  20 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., Jul 1 2018, In: Journal of neuropathology and experimental neurology. 77, 7, p. 542-548 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Astrocytoma 100%
  • Epigenomics 78%
  • Chromosomal Instability 67%
  • Mutation 40%
  • Atlases 38%
  31 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 journal › Article › peer-review

  Open Access

  • Chronic Progressive Multiple Sclerosis 100%
  • Multiple Sclerosis 56%
  • Genome 49%
  • Hereditary Spastic Paraplegia 23%
  • Nervous System Diseases 22%
  36 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 othersMuenke, M., Jan 1 2018, In: Genetics in Medicine. 20, 1, p. 14-23 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Holoprosencephaly 100%
  • Whole Exome Sequencing 20%
  • Multifactorial Inheritance 10%
  • Genetic Testing 8%
  • Deglutition 8%
  15 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 journal › Article › peer-review

  • 4-dichlorobenzene 100%
  • Genetic Predisposition to Disease 55%
  • Autoimmunity 53%
  • 2,5-dichlorophenol 17%
  • Spinal Cord 7%
  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 journal › Article › peer-review

  Open Access

  • Presenilin-1 100%
  • encephalitis 86%
  • Autoimmune Experimental Encephalomyelitis 84%
  • Effector 78%
  • T-lymphocytes 65%
  3 Scopus citations

• 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 journal › Article › peer-review

  Open Access

  • Podocytes 100%
  • Protamines 22%
  • Collagen 17%
  • Capillaries 16%
  • Wounds and Injuries 14%
  23 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 journal › Article › peer-review

  Open Access

  • siponimod 100%
  • Chronic Progressive Multiple Sclerosis 70%
  • Placebos 35%
  • Bradycardia 6%
  • Multiple Sclerosis 5%
  644 Scopus citations

• The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma

  Bissler, J. J., Franz, D. N., Frost, M. D., Belousova, E., Bebin, E. M., Sparagana, S., Berkowitz, N., Ridolfi, A. & Kingswood, J. C., Jan 1 2018, In: Pediatric Nephrology. 33, 1, p. 101-109 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Angiomyolipoma 100%
  • Everolimus 93%
  • Tuberous Sclerosis 92%
  • Astrocytoma 82%
  • Pediatrics 47%
  35 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., Dec 2018, In: Annals of Clinical and Translational Neurology. 5, 12, p. 1543-1561 19 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Poly I-C 100%
  • Mental Competency 75%
  • Integrins 74%
  • Central Nervous System 58%
  • Natalizumab 56%
  6 Scopus citations

• 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 othersOlivas, 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 journal › Article › peer-review

  Open Access

  • Non-Small Cell Lung Carcinoma 100%
  • Lung Neoplasms 88%
  • RNA Stability 61%
  • Inflammation Mediators 35%
  • Oncogenes 26%
  71 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., 2018, In: Journal of Pediatric Orthopaedics. 38, 3, p. 152-156 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Orthopedic Surgeons 100%
  • Toes 98%
  • Walking 77%
  • Referral and Consultation 65%
  • Pediatrics 57%
  13 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., Apr 2017, In: Journal of child neurology. 32, 5, p. 482-487 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • abobotulinumtoxinA 100%
  • Cerebral Palsy 65%
  • Placebos 30%
  • Child 27%
  • Leg 21%
  21 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 journal › Article › peer-review

  Open Access

  • JNK Mitogen-Activated Protein Kinases 100%
  • Extracellular Signal-Regulated MAP Kinases 96%
  • Glioblastoma 87%
  • ErbB Receptors 84%
  • Tumor Necrosis Factor-alpha 63%
  79 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 othersRobson, 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 journal › Article › peer-review

  Open Access

  • Split-Brain Procedure 100%
  • Colorectal Neoplasms 47%
  • Mutation 33%
  • White Matter 27%
  • Central Nervous System 22%
  52 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 othersMonaghan, 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 2017, In: Human molecular genetics. 26, 24, p. 4937-4950 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ferredoxins 100%
  • Optic Atrophy 86%
  • Oxidoreductases 59%
  • Mutation 36%
  • Ferredoxin-NADP Reductase 36%
  32 Scopus citations

• Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

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

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • allele 100%
  • phenotype 96%
  • Alleles 65%
  • alleles 61%
  • Phenotype 53%
  57 Scopus citations

• Effect of Template Reporting of Brain MRIs for Multiple Sclerosis on Report Thoroughness and Neurologist-Rated Quality: Results of a Prospective Quality Improvement Project

  Michigan Radiology Quality Collaborative, Mar 1 2017, In: Journal of the American College of Radiology. 14, 3, p. 371-379.e1

  Research output: Contribution to journal › Article › peer-review

  • Neurologists 100%
  • Quality Improvement 88%
  • Multiple Sclerosis 79%
  • Brain 44%
  • Health Insurance Portability and Accountability Act 17%
  41 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 journal › Article › peer-review

  Open Access

  • Relapsing-Remitting Multiple Sclerosis 100%
  • Cell Transplantation 87%
  • Immunosuppressive Agents 67%
  • Progression-Free Survival 31%
  • Multiple Sclerosis 30%
  126 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 journal › Article › peer-review

  Open Access

  • Interleukin-13 Receptor alpha2 Subunit 100%
  • interleukins 78%
  • Interleukin-13 Receptors 75%
  • epidermal growth factor receptor VIII 75%
  • Glioblastoma 46%
  58 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 journal › Article › peer-review

  Open Access

  • laquinimod 100%
  • Inbred C3H Mouse 64%
  • Alzheimer Disease 42%
  • Central Nervous System 40%
  • Brain 26%
  6 Scopus citations