Items where Subject is "nervous system diseases and disorders"

Paper

Andersen, L., Ballester, R., Marchuk, D., Saulino, A., Wigler, M. H., Collins, F. (October 1991) Alternative Splicing in the Proposed Catalytic Domain of the Type-1 Neurofibromatosis Gene. American Journal of Human Genetics, 49 (4). p. 21. ISSN 0002-9297

Andersen, L. B., Ballester, R., Marchuk, D. A., Chang, E., Gutmann, D. H., Saulino, A. M., Camonis, J., Wigler, M. H., Collins, F. S. (January 1993) A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Molecular and Cellular Biology, 13 (1). pp. 487-495. ISSN 0270-7306

Ballester, R., Marchuk, D., Boguski, M., Saulino, A., Letcher, R., Wigler, M. H., Collins, F. (November 1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell, 63 (4). pp. 851-9. ISSN 0092-8674

Brown, Anna-Leigh, Wilkins, Oscar G, Keuss, Matthew J, Hill, Sarah E, Zanovello, Matteo, Lee, Weaverly Colleen, Bampton, Alexander, Lee, Flora CY, Masino, Laura, Qi, Yue A, Bryce-Smith, Sam, Gatt, Ariana, Hallegger, Martina, Fagegaltier, Delphine, Phatnani, Hemali, NYGC ALS Consortium, Newcombe, Jia, Gustavsson, Emil K, Seddighi, Sahba, Reyes, Joel F, Coon, Steven L, Ramos, Daniel, Schiavo, Giampietro, Fisher, Elizabeth MC, Raj, Towfique, Secrier, Maria, Lashley, Tammaryn, Ule, Jernej, Buratti, Emanuele, Humphrey, Jack, Ward, Michael E, Fratta, Pietro (February 2022) TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, 603 (7899). pp. 131-137. ISSN 0028-0836

Cai, J., Donaldson, A., Yang, M., German, M. S., Enikolopov, G. N., Iacovitti, L. (January 2009) The Role of Lmx1a in the Differentiation of Human Embryonic Stem Cells into Midbrain Dopamine Neurons in Culture and After Transplantation into a Parkinson's Disease Model. Stem Cells, 27 (1). pp. 220-229.

Chen, Alex Yen-Yu, Tully, Tim (March 2018) A stress-enhanced model for discovery of disease-modifying gene: Ece1-suppresses the toxicity of α-synuclein A30P. Neurobiology of Disease, 114. pp. 153-163. ISSN 0969-9961

Conlon, E. G., Fagegaltier, D., Agius, P., Davis-Porada, J., Gregory, J., Hubbard, I., Kang, K., Kim, D., Phatnani, H., Shneider, N. A., Manley, J. L., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Miller, T. M., Chandran, S., Pal, S., Hornstein, E., Macgowan, D. J., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Phatnani, H., Shneider, N. A., Manley, J. L. (July 2018) Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism. eLife, 7. ISSN 2050084X (ISSN)

Dewan, R, Chia, R, Ding, J, Hickman, RA, Stein, TD, Abramzon, Y, Ahmed, S, Sabir, MS, Portley, MK, Tucci, A, Ibáñez, K, Shankaracharya, FNU, Keagle, P, Rossi, G, Caroppo, P, Tagliavini, F, Waldo, ML, Johansson, PM, Nilsson, CF, Adeleye, A, Alba, C, Bacikova, D, Hupalo, DN, Martinez, EMG, Pollard, HB, Sukumar, G, Soltis, AR, Tuck, M, Zhang, X, Wilkerson, MD, Smith, BN, Ticozzi, N, Fallini, C, Gkazi, AS, Topp, SD, Kost, J, Scotter, EL, Kenna, KP, Miller, JW, Tiloca, C, Vance, C, Danielson, EW, Troakes, C, Colombrita, C, Al-Sarraj, S, Lewis, EA, King, A, Calini, D, Pensato, V, Castellotti, B, de Belleroche, J, Baas, F, ten Asbroek, ALMA, Sapp, PC, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Muñoz-Blanco, JL, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Diekstra, FP, Rademakers, R, van Blitterswijk, M, Boylan, KB, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Blair, IP, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Morrison, KE, Veldink, JH, van den Berg, LH, Al-Chalabi, A, Pall, H, Shaw, PJ, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Gellera, C, Ratti, A, Brown, RH (February 2021) Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron, 109 (3). 448-460.e4. ISSN 0896-6273

Edvardson, S., Shaag, A., Zenvirt, S., Erlich, Y., Hannon, G. J., Shanske, A. L., Gomori, J. M., Ekstein, J., Elpeleg, O. (January 2010) Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation. American Journal of Human Genetics, 86 (1). pp. 93-97.

Eisch, A. J., Cameron, H. A., Encinas, J. M., Meltzer, L. A., Ming, G. L., Overstreet-Wadiche, L. S. (2008) Adult neurogenesis, mental health, and mental illness: hope or hype? J Neurosci, 28 (46). pp. 11785-91.

Encinas, Juan M., Vazquez, Marcelo E., Switzer, Robert C., Chamberland, Dennis W., Nick, Harry, Levine, Howard G., Scarpa, Philip J., Enikolopov, Grigori, Steindler, Dennis A. (2008) Quiescent adult neural stem cells are exceptionally sensitive to cosmic radiation. Experimental Neurology, 210 (1). 274-279 . ISSN 1090-2430 (Electronic) 1090-2430 (Linking)

Gao, X., Enikolopov, G. N., Chen, J. (2008) Direct Isolation of Neural Stem Cells in the Adult Hippocampus after Traumatic Brain Injury. J Neurotrauma, 25 (8). 985-995 .

Glajch, K. E., Fleming, S. M., Surmeier, D. J., Osten, P. (2012) Sensorimotor assessment of the unilateral 6-hydroxydopamine mouse model of Parkinson's disease. Behavioural Brain Research, 230 (2). pp. 309-316. ISSN 01664328 (ISSN)

Gutmann, D. H., Stiles, C. D., Lowe, S. W., Bollag, G. E., Furnari, F. B., Charest, A. (2011) Report from the fifth national cancer institute mouse models of human cancers consortium nervous system tumors workshop. Neuro-Oncology, 13 (7). pp. 692-699. ISSN 15228517 (ISSN)

Huang, Z. J. (May 2010) Assembly of GABAergic Inhibitory Circuits in Neocortex and Implications in Neurodevelopmental Disorders. Biological Psychiatry, 67 (9). p. 633. ISSN 0006-3223

Iijima-Ando, K., Wu, P., Drier, E. A., Iijima, K., Yin, J. C. P. (July 2005) cAMP-response element-binding protein and heat-shock protein 70 additively suppress polyglutamine-mediated toxicity in Drosophila. Proc Natl Acad Sci U S A, 102 (29). pp. 10261-6. ISSN 0027-8424 (Print)

Karakas, Erkan, Simorowski, Noriko, Furukawa, Hiro (January 2010) Structural Insights into Allosteric Modulation of NMDA Receptors Through the Amino-Terminal Domain. Biophysical Journal, 98 (3, Sup). 609a-609a.

Karsten, S. L., Sang, T. K., Gehman, L. T., Chatterjee, S., Liu, J., Lawless, G. M., Sengupta, S., Berry, R. W., Pomakian, J., Oh, H. S., Schulz, C., Hui, K. S., Wiedau-Pazos, M., Vinters, H. V., Binder, L. I., Geschwind, D. H., Jackson, G. R. (2006) A Genomic Screen for Modifiers of Tauopathy Identifies Puromycin-Sensitive Aminopeptidase as an Inhibitor of Tau-Induced Neurodegeneration. Neuron, 51 (5). pp. 549-560. ISSN 08966273

Li, W. H., Jin, Y., Prazak, L., Hammell, M., Dubnau, J. (September 2012) Transposable Elements in TDP-43-Mediated Neurodegenerative Disorders. PLoS ONE, 7 (9). ISSN 1932-6203

Lipovac, M. N., Holland, T., Poleksic, A., Killian, C., Lajtha, A. (May 2003) The possible role of glutamate uptake in metaphit-induced seizures. Neurochemical Research, 28 (5). pp. 723-731. ISSN 0364-3190

Llinas, R. R., Ribary, U., Jeanmonod, D., Kronberg, E., Mitra, P. P. (December 1999) Thalamocortical dysrhythmia: A neurological and neuropsychiatric syndrome characterized by magnetoencephalography. Proceedings of the National Academy of Sciences, 96 (26). pp. 15222-15227.

Matheson, S. F., Hu, K. Q., Brouns, M. R., Sordella, R., VanderHeide, J. D., Settleman, J. (2006) Distinct but overlapping functions for the closely related p190 RhoGAPs in neural development. Developmental Neuroscience, 28 (6). pp. 538-50. ISSN 0378-5866 (Print)

Mitchell, K. J., Huang, Z. J., Moghaddam, B., Sawa, A. (November 2011) Following the genes: A framework for animal modeling of psychiatric disorders. BMC Biology, 9 (11). Article 76. ISSN 17417007

Reilly, M. T., Faulkner, G. J., Dubnau, J., Ponomarev, I., Gage, F. H. (November 2013) The role of transposable elements in health and diseases of the central nervous system. Journal of Neuroscience, 33 (45). pp. 17577-86. ISSN 0270-6474

Riedel, O., Klotsche, J., Spottke, A., Deuschl, G., Forstl, H., Henn, F., Heuser, I., Oertel, W., Reichmann, H., Riederer, P., Trenkwalder, C., Dodel, R., Wittchen, H. U. (February 2008) Cognitive impairment in 873 patients with idiopathic Parkinson's disease. Results from the German Study on Epidemiology of Parkinson's Disease with Dementia (GEPAD). J Neurol, 255 (2). pp. 255-64. ISSN 0340-5354 (Print)0340-5354 (Linking)

Silva, A. J., Fedorov, N., Kogan, J., Frankland, P., Coblentz, J., Lundsten, R., Friedman, E., Smith, A., Cho, Y., Giese, K. P. (1996) Genetic analysis of function and dysfunction in the central nervous system. Cold Spring Harbor Symposia on Quantitative Biology, 61. pp. 239-46. ISSN 0091-7451 (Print)

Staklinski, Stephen J, Chang, Mario C, Ahrens-Nicklas, Rebecca C, Kaur, Shagun, Stefanatos, Arianna K, Dudenhausen, Elizabeth E, Merritt, Matthew E, Kilberg, Michael S (March 2023) Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines. JIMD Reports, 64 (2). pp. 167-179. ISSN 2192-8304

Tracey, KJ (July 2021) From human to mouse and back offers hope for patients with fibromyalgia. Journal of Clinical Investigation, 131 (13). ISSN 0021-9738

Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, NYGC ALS Consortium, Cortese, Andrea, Cereda, Cristina, Bugiardini, Enrico, Cardani, Rosanna, Meola, Giovanni, Ripolone, Michela, Moggio, Maurizio, Romano, Maurizio, Secrier, Maria, Fratta, Pietro, Buratti, Emanuele (April 2022) Cell environment shapes TDP-43 function with implications in neuronal and muscle disease. Communications Biology, 5 (1). p. 314. ISSN 2399-3642

Monograph

Korf, B. R., Casper, E., Friedman, J., Gutmann, D., North, K., Seizinger, G., Stillman, B. W., Rubenstein, A. E., Bellermann, P. R. W. (1997) Report of the National Neurofibromatosis Foundation (NNFF) Task Force on Treatment of Neurofibromatosis 1. Technical Report. The National Neurofibromatosis Foundation, Inc..

Conference or Workshop Item

Epstein, J., Hogan, B., Oliver, G. (April 2010) VERTEBRATE ORGANOGENESIS. In: 2010 meeting on VERTEBRATE ORGANOGENESIS, April 27–May 1, 2010, Cold Spring Harbor Laboratory.

Stevens, B., Talbot, W. (July 2010) GLIA IN HEALTH & DISEASE. In: Abstracts of 2010 meeting of GLIA IN HEALTH & DISEASE, July 22–July 26, 2010, Cold Spring Harbor Laboratory.