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22q13.3 Deletion syndrome: Clinical and molecular analysis using array CGH

Dhar, S. U., Del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., Grebe, T. A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips, J. A., Beaudet, A. L., Stankiewicz, P., Patel, A., Cheung, S. W. & 1 others, Sahoo, T., Mar 1 2010, In : American Journal of Medical Genetics, Part A. 152, 3, p. 573-581 9 p.

Research output: Contribution to journalArticle

89 Scopus citations

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

A 69-year-old man with left hemispheric necrotizing mass lesion: Com March 2009 case 2

Otto, F., Neuen-Jacob, E., Arendt, G., Stüve, O. & Hartung, H. P., Jul 1 2009, In : Brain Pathology. 19, 3, p. 541-544 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Abnormal sudomotor function in the hypomelanotic macules of tuberous sclerosis complex

Chudnow, R. S., Wolfe, G. I., Sparagana, S. P., Delgado, M. R., Batchelor, L. & Roach, E. S., Jan 1 2000, In : Journal of child neurology. 15, 8, p. 529-532 4 p.

Research output: Contribution to journalArticle

8 Scopus citations

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

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

Abobotulinumtoxin A for equinus foot deformity in cerebral palsy: A randomized controlled trial

Delgado, M. R., Tilton, A., Russman, B., Benavides, O., Bonikowski, M., Carranza, J., Dabrowski, E., Dursun, N., Gormley, M., Jozwiak, M., Matthews, D., Maciag-Tymecka, I., Unlu, E., Pham, E., Tse, A. & Picaut, P., Feb 2016, In : Pediatrics. 137, 2, e20152830.

Research output: Contribution to journalArticle

30 Scopus citations
12 Scopus citations

Acute deformity correction of lower extremities under SSEP-monitoring control

Makarov, M. R., Samchukov, M. L., Birch, J. G., Johnston, C. E., Delgado, M. R., Rampy, P. L. & Van Allen, E. M., Jan 1 2003, In : Journal of Pediatric Orthopaedics. 23, 4, p. 470-477 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

Acute relapse after initiation of Siponimod in a patient with secondary progressive MS

Hussain, R., O’Leary, S., Pacheco, F. M., Zacharias, T. E., Litvak, P., Sguigna, P., Marder, E., Kia, K., Kooner, K. & Stüve, O., Mar 1 2016, In : Journal of Neurology. 263, 3, p. 606-610 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Adjunctive therapy with oxcarbazepine in children with partial seizures

the Oxcarbazepine Pediatric Study Group, Jun 27 2000, In : Neurology. 54, 12, p. 2237-2244 8 p.

Research output: Contribution to journalArticle

166 Scopus citations

A genetic variant of the anti-apoptotic protein Akt predicts natalizumab-induced lymphocytosis and post-natalizumab multiple sclerosis reactivation

Rossi, S., Motta, C., Studer, V., Monteleone, F., De Chiara, V., Buttari, F., Barbieri, F., Bernardi, G., Battistini, L., Cutter, G., Stüve, O., Salvetti, M. & Centonze, D., Jan 2013, In : Multiple Sclerosis Journal. 19, 1, p. 59-68 10 p.

Research output: Contribution to journalArticle

17 Scopus citations

Altered CD4+/CD8+ T-cell ratios in cerebrospinal fluid of natalizumab-treated patients with multiple sclerosis

Stuve, O., Marra, C. M., Bar-Or, A., Niino, M., Cravens, P. D., Cepok, S., Frohman, E., Phillips, J. T., Arendt, G., Jerome, K. R., Cook, L., Grand'Maison, F., Hemmer, B., Monson, N. L. & Racke, M. K., Oct 17 2006, In : Archives of neurology. 63, 10, p. 1383-1387 5 p.

Research output: Contribution to journalArticle

214 Scopus citations

Analysis of three plasmid systems for use in DNA Aβ42 immunization as therapy for Alzheimer's disease

Qu, B. X., Lambracht-Washington, D., Fu, M., Eagar, T. N., Stüve, O. & Rosenberg, R. N., Jul 1 2010, In : Vaccine. 28, 32, p. 5280-5287 8 p.

Research output: Contribution to journalArticle

21 Scopus citations

An EGFR wild type-EGFRvIII-HB-EGF feed-forward loop regulates the activation of EGFRvIII

Li, L., Chakraborty, S., Yang, C. R., Hatanpaa, K. J., Cipher, D. J., Puliyappadamba, V. T., Rehman, A., Jiwani, A. J., Mickey, B., Madden, C., Raisanen, J., Burma, S., Saha, D., Wang, Z., Pingle, S. C., Kesari, S., Boothman, D. A. & Habib, A. A., Aug 14 2014, In : Oncogene. 33, 33, p. 4253-4264 12 p.

Research output: Contribution to journalArticle

29 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

A one-year prospective, randomized, placebo-controlled, quadruple-blinded, phase II safety pilot trial of combination therapy with interferon beta-1a and mycophenolate mofetil in early relapsing-remitting multiple sclerosis (TIME MS)

Remington, G. M., Treadaway, K., Frohman, T., Salter, A., Stuve, O., Racke, M. K., Hawker, K., Agosta, F., Sormani, M. P., Filippi, M. & Frohman, E., Jan 2010, In : Therapeutic Advances in Neurological Disorders. 3, 1, p. 3-13 11 p.

Research output: Contribution to journalArticle

21 Scopus citations
21 Scopus citations
15 Scopus citations

A randomized, blinded, parallel-group, pilot trial of mycophenolate mofetil (CellCept) compared with interferon beta-1a (Avonex) in patients with relapsing-remitting multiple sclerosis

Frohman, E., Cutter, G., Remington, G., Gao, H., Rossman, H., Weinstock-Guttman, B., Durfee, J. E., Conger, A., Carl, E., Stuve, O., Greenberg, B., Salter, A., Frohman, T. C., Shah, A., Bates, A., Cox, J. L., Dwyer, M. G., Shah, A., Greenberg, B. M., Racke, M. K. & 1 others, Zivadinov, R., Jan 2010, In : Therapeutic Advances in Neurological Disorders. 3, 1, p. 15-28 14 p.

Research output: Contribution to journalArticle

25 Scopus citations

A single amino acid substitution prevents recognition of a dominant human aquaporin-4 determinant in the context of HLA-DRB1-03:01 by a murine TCR

Arellano, B., Hussain, R., Miller-Little, W. A., Herndon, E., Lambracht-Washington, D., Eagar, T. N., Lewis, R., Healey, D., Vernino, S., Greenberg, B. M. & Stüve, O., Apr 2016, In : PloS one. 11, 4, e0152720.

Research output: Contribution to journalArticle

3 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

37 Scopus citations

Augmented HR repair mediates acquired temozolomide resistance in glioblastoma

Del Alcazar, C. R. G., Todorova, P. K., Habib, A. A., Mukherjee, B. & Burma, S., Oct 1 2016, In : Molecular Cancer Research. 14, 10, p. 928-940 13 p.

Research output: Contribution to journalArticle

19 Scopus citations

A wireless system for monitoring transcranial motor evoked potentials

Farajidavar, A., Seifert, J. L., Bell, J. E. S., Seo, Y. S., Delgado, M. R., Sparagana, S., Romero, M. I. & Chiao, J. C., Jan 1 2011, In : Annals of Biomedical Engineering. 39, 1, p. 517-523 7 p.

Research output: Contribution to journalArticle

6 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

10 Scopus citations

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Filges, I., Sparagana, S., Sargent, M., Selby, K., Schlade-Bartusiak, K., Lueder, G. T., Robichaux-Viehoever, A., Schlaggar, B. L., Shimony, J. S. & Shinawi, M., Aug 2014, In : American Journal of Medical Genetics, Part A. 164, 8, p. 2003-2012 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

Bromocriptine: Problems with low-dose de novo therapy in Parkinson's disease

Grimes, J. D. & Delgado, M. R., Jan 1 1985, In : Clinical Neuropharmacology. 8, 1, p. 73-77 5 p.

Research output: Contribution to journalArticle

17 Scopus citations

Carbamazepine trial for Lesch-Nyhan self-mutilation

Roach, E. S., Delgado, M., Anderson, L., Iannaccone, S. T. & Burns, D. K., Nov 1996, In : Journal of child neurology. 11, 6, p. 476-478 3 p.

Research output: Contribution to journalArticle

23 Scopus citations

CCL2 upregulation triggers hypoxic preconditioning-induced protection from stroke

Stowe, A. M., Wacker, B. K., Cravens, P. D., Perfater, J. L., Li, M. K., Hu, R., Freie, A. B., Stüve, O. & Gidday, J. M., Feb 16 2012, In : Journal of Neuroinflammation. 9, 33.

Research output: Contribution to journalArticle

49 Scopus citations

CD19 as a molecular target in CNS autoimmunity

Stüve, O., Warnke, C., Deason, K., Stangel, M., Kieseier, B. C., Hartung, H. P., Von Büdingen, H. C., Centonze, D., Forsthuber, T. G. & Knappertz, V., 2014, In : Acta Neuropathologica. 128, 2, p. 177-190 14 p.

Research output: Contribution to journalArticle

13 Scopus citations
71 Scopus citations

Chemokine-enhanced migration of human peripheral blood mononuclear cells is antagonized by interferon beta-1b through an effect on matrix metalloproteinase-9

Stuve, O., Chabot, S., Jung, S. S., Williams, G. & Yong, V. W., Dec 1 1997, In : Journal of Neuroimmunology. 80, 1-2, p. 38-46 9 p.

Research output: Contribution to journalArticle

96 Scopus citations

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Liu, P., Erez, A., Nagamani, S. C. S., Dhar, S. U., Kołodziejska, K. E., Dharmadhikari, A. V., Cooper, M. L., Wiszniewska, J., Zhang, F., Withers, M. A., Bacino, C. A., Campos-Acevedo, L. D., Delgado, M. R., Freedenberg, D., Garnica, A., Grebe, T. A., Hernández-Almaguer, D., Immken, L., Lalani, S. R., McLean, S. D. & 11 others, Northrup, H., Scaglia, F., Strathearn, L., Trapane, P., Kang, S. H. L., Patel, A., Cheung, S. W., Hastings, P. J., Stankiewicz, P., Lupski, J. R. & Bi, W., Sep 16 2011, In : Cell. 146, 6, p. 889-903 15 p.

Research output: Contribution to journalArticle

266 Scopus citations

Classification and definition of disorders causing hypertonia in childhood

Sanger, T. D., Delgado, M. R., Gaebler-Spira, D., Hallett, M. & Mink, J. W., Jan 1 2003, In : Pediatrics. 111, 1, p. e89-e97

Research output: Contribution to journalArticle

Open Access
442 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 journalArticle

22 Scopus citations

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function

Lacbawan, F., Solomon, B. D., Roessler, E., El-Jaick, K., Domené, S., Vélez, J. I., Zhou, N., Hadley, D., Balog, J. Z., Long, R., Fryer, A., Smith, W., Omar, S., McLean, S. D., Clarkson, K., Lichty, A., Clegg, N. J., Delgado, M. R., Levey, E., Stashinko, E. & 26 others, Potocki, L., VanAllen, M. I., Clayton-Smith, J., Donnai, D., Bianchi, D. W., Juliusson, P. B., Njølstad, P. R., Brunner, H. G., Carey, J. C., Hehr, U., Müsebeck, J., Wieacker, P. F., Postra, A., Hennekam, R. C. M., Van Den Boogaard, M. J. H., Van Haeringen, A., Paulussen, A., Herbergs, J., Schrander-Stumpel, C. T. R. M., Janecke, A. R., Chitayat, D., Hahn, J., McDonald-McGinn, D. M., Zackai, E. H., Dobyns, W. B. & Muenke, M., Jun 2009, In : Journal of medical genetics. 46, 6, p. 389-398 10 p.

Research output: Contribution to journalArticle

65 Scopus citations

Clinical stabilization and effective B-lymphocyte depletion in the cerebrospinal fluid and peripheral blood of a patient with fulminant relapsing-remitting multiple sclerosis

Stüve, O., Cepok, S., Elias, B., Saleh, A., Hartung, H. P., Hemmer, B. & Kieseier, B. C., Oct 1 2005, In : Archives of neurology. 62, 10, p. 1620-1623 4 p.

Research output: Contribution to journalArticle

125 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

Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations

Shastry, S., Delgado, M. R., Dirik, E., Turkmen, M., Agarwal, A. K. & Garg, A., Sep 1 2010, In : American Journal of Medical Genetics, Part A. 152, 9, p. 2245-2253 9 p.

Research output: Contribution to journalArticle

85 Scopus citations

Constitutive and ligand-induced EGFR signalling triggers distinct and mutually exclusive downstream signalling networks

Chakraborty, S., Li, L., Puliyappadamba, V. T., Guo, G., Hatanpaa, K. J., Mickey, B., Souza, R. F., Vo, P., Herz, J., Chen, M. R., Boothman, D. A., Pandita, T. K., Wang, D. H., Sen, G. C. & Habib, A. A., 2014, In : Nature communications. 5, 5811.

Research output: Contribution to journalArticle

37 Scopus citations

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Liu, P., Erez, A., Nagamani, S. C. S., Bi, W., Carvalho, C. M. B., Simmons, A. D., Wiszniewska, J., Fang, P., Eng, P. A., Cooper, M. L., Sutton, V. R., Roeder, E. R., Bodensteiner, J. B., Delgado, M. R., Prakash, S. K., Belmont, J. W., Stankiewicz, P., Berg, J. S., Shinawi, M., Patel, A. & 2 others, Cheung, S. W. & Lupski, J. R., May 2011, In : Human molecular genetics. 20, 10, p. 1975-1988 14 p., ddr078.

Research output: Contribution to journalArticle

51 Scopus citations

Corticosteroids for Multiple Sclerosis: II. Application for Disease-Modifying Effects

Shah, A., Eggenberger, E., Zivadinov, R., Stuve, O. & Frohman, E., Oct 1 2007, In : Neurotherapeutics. 4, 4, p. 627-632 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

Corticosteroids for Multiple Sclerosis: I. Application for Treating Exacerbations

Frohman, E., Shah, A., Eggenberger, E., Metz, L., Zivadinov, R. & Stuve, O., Oct 1 2007, In : Neurotherapeutics. 4, 4, p. 618-626 9 p.

Research output: Contribution to journalArticle

32 Scopus citations

Cutting edge: Oral type I IFN-τ promotes a Th2 bias and enhances suppression of autoimmune encephalomyelitis by oral glatiramer acetate

Soos, J. M., Stüve, O., Youssef, S., Bravo, M., Johnson, H. M., Weiner, H. L. & Zamvil, S. S., Sep 1 2002, In : Journal of Immunology. 169, 5, p. 2231-2235 5 p.

Research output: Contribution to journalArticle

Open Access
59 Scopus citations

Cytokine levels in CSF and neuropsychological performance in HIV patients

Nolting, T., Lindecke, A., Hartung, H. P., Koutsilieri, E., Maschke, M., Husstedt, I. W., Sopper, S., Stüve, O. & Arendt, G., Jun 1 2012, In : Journal of NeuroVirology. 18, 3, p. 157-161 5 p.

Research output: Contribution to journalArticle

10 Scopus citations

Cytoplasmic TRADD confers a worse prognosis in glioblastoma

Chakraborty, S., Li, L., Tang, H., Xie, Y., Puliyappadamba, V. T., Raisanen, J., Burma, S., Boothman, D. A., Cochran, B., Wu, J. & Habib, A. A., Aug 2013, In : Neoplasia (United States). 15, 8, p. 888-897 10 p.

Research output: Contribution to journalArticle

9 Scopus citations

Decrease in the numbers of dendritic cells and CD4 + T cells in cerebral perivascular spaces due to natalizumab

Del Pilar Martin, M., Cravens, P. D., Winger, R., Frohman, E., Racke, M. K., Eagar, T. N., Zamvil, S. S., Weber, M. S., Hemmer, B., Karandikar, N. J., Kleinschmidt-DeMasters, B. K. & Stuve, O., Dec 1 2008, In : Archives of neurology. 65, 12, p. 1596-1603 8 p.

Research output: Contribution to journalArticle

110 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

Depletion of B lymphocytes from cerebral perivascular spaces by rituximab

Martin, M. D. P., Cravens, P. D., Winger, R., Kieseier, B. C., Cepok, S., Eagar, T. N., Zamvil, S. S., Weber, M. S., Frohman, E., Kleinschmidt-DeMasters, B. K., Montine, T. J., Hemmer, B., Marra, C. M. & Stuve, O., Aug 1 2009, In : Archives of neurology. 66, 8, p. 1016-1020 5 p.

Research output: Contribution to journalArticle

57 Scopus citations