TY - JOUR AU - Hilton, C. L. AU - Zhang, Y. AU - Whilte, M. R. AU - Klohr, C. L. AU - Constantino, J. PY - 2012 DA - 2012// TI - Motor impairment in sibling pairs concordant and discordant for autism spectrum disorders JO - Autism VL - 16 UR - https://doi.org/10.1177/1362361311423018 DO - 10.1177/1362361311423018 ID - Hilton2012 ER - TY - JOUR AU - Hocking, D. R. AU - Rinehart, N. J. AU - McGinley, J. L. AU - Bradshaw, J. L. PY - 2009 DA - 2009// TI - Gait function in adults with Williams syndrome JO - Exp Brain Res VL - 192 UR - https://doi.org/10.1007/s00221-008-1586-3 DO - 10.1007/s00221-008-1586-3 ID - Hocking2009 ER - TY - JOUR AU - Kindregan, D. AU - Gallagher, L. AU - Gormley, J. PY - 2015 DA - 2015// TI - Gait Deviations in children with autism spectrum disorders: a review JO - Autism Res Treat VL - 2015 UR - https://doi.org/10.1155/2015/741480 DO - 10.1155/2015/741480 ID - Kindregan2015 ER - TY - JOUR AU - Kraan, C. M. AU - Tan, A. H. J. AU - Cornish, K. M. PY - 2017 DA - 2017// TI - The developmental dynamics of gait maturation with a focus on spatiotemporal measures JO - Gait Posture VL - 51 UR - https://doi.org/10.1016/j.gaitpost.2016.10.021 DO - 10.1016/j.gaitpost.2016.10.021 ID - Kraan2017 ER - TY - JOUR AU - Sanders, R. D. AU - Gillig, P. M. PY - 2010 DA - 2010// TI - Gait and Its assessment in psychiatry JO - Psychiatry Edgemont VL - 7 ID - Sanders2010 ER - TY - JOUR AU - Morris, C. A. AU - Braddock, S. R. PY - 2020 DA - 2020// TI - Health care supervision for children with Williams syndrome JO - Pediatrics VL - 145 UR - https://doi.org/10.1542/peds.2019-3761 DO - 10.1542/peds.2019-3761 ID - Morris2020 ER - TY - JOUR AU - Champion, J. A. AU - Rose, K. J. AU - Payne, J. M. AU - Burns, J. AU - North, K. N. PY - 2014 DA - 2014// TI - Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1 JO - Dev Med Child Neurol VL - 56 UR - https://doi.org/10.1111/dmcn.12361 DO - 10.1111/dmcn.12361 ID - Champion2014 ER - TY - JOUR AU - Garg, S. AU - Green, J. AU - Leadbitter, K. AU - Emsley, R. AU - Lehtonen, A. AU - Evans, D. G. AU - Huson, S. M. PY - 2013 DA - 2013// TI - Neurofibromatosis type 1 and autism spectrum disorder JO - Pediatrics VL - 132 UR - https://doi.org/10.1542/peds.2013-1868 DO - 10.1542/peds.2013-1868 ID - Garg2013 ER - TY - JOUR AU - Morris, S. M. AU - Acosta, M. T. AU - Garg, S. AU - Green, J. AU - Huson, S. AU - Legius, E. AU - North, K. N. AU - Payne, J. M. AU - Plasschaert, E. AU - Frazier, T. W. AU - Weiss, L. A. AU - Zhang, Y. AU - Gutmann, D. H. AU - Constantino, J. N. PY - 2016 DA - 2016// TI - Disease burden and symptom structure of autism in neurofibromatosis type 1: a study of the International NF1-ASD Consortium Team (INFACT) JO - JAMA Psychiatry VL - 73 UR - https://doi.org/10.1001/jamapsychiatry.2016.2600 DO - 10.1001/jamapsychiatry.2016.2600 ID - Morris2016 ER - TY - JOUR AU - Akula, S. K. AU - McCullough, K. B. AU - Weichselbaum, C. AU - Dougherty, J. D. AU - Maloney, S. E. PY - 2020 DA - 2020// TI - The trajectory of gait development in mice JO - Brain Behav VL - 10 UR - https://doi.org/10.1002/brb3.1636 DO - 10.1002/brb3.1636 ID - Akula2020 ER - TY - JOUR AU - Segura-Puimedon, M. AU - Sahún, I. AU - Velot, E. AU - Dubus, P. AU - Borralleras, C. AU - Rodrigues, A. J. AU - Valero, M. C. AU - Valverde, O. AU - Sousa, N. AU - Herault, Y. AU - Dierssen, M. AU - Pérez-Jurado, L. A. AU - Campuzano, V. PY - 2014 DA - 2014// TI - Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder JO - Hum Mol Genet VL - 23 UR - https://doi.org/10.1093/hmg/ddu368 DO - 10.1093/hmg/ddu368 ID - Segura-Puimedon2014 ER - TY - JOUR AU - Kocova, M. AU - Kochova, E. AU - Sukarova-Angelovska, E. PY - 2015 DA - 2015// TI - Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature JO - BMC Endocr Disord VL - 15 UR - https://doi.org/10.1186/s12902-015-0076-4 DO - 10.1186/s12902-015-0076-4 ID - Kocova2015 ER - TY - CHAP AU - Messiaen, L. AU - Wimmer, K. ED - Kaufmann, D. PY - 2008 DA - 2008// BT - NF1 mutational spectrum. In: Monographs in human genetics: neurofibromatoses PB - Karger CY - Basel ID - Messiaen2008 ER - TY - JOUR AU - Wang, Q. AU - Pierce-Hoffman, E. AU - Cummings, B. B. AU - Alföldi, J. AU - Francioli, L. C. AU - Gauthier, L. D. PY - 2020 DA - 2020// TI - Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes JO - Nat Commun VL - 11 UR - https://doi.org/10.1038/s41467-019-12438-5 DO - 10.1038/s41467-019-12438-5 ID - Wang2020 ER - TY - JOUR AU - Li, K. AU - Turner, A. N. AU - Chen, M. AU - Brosius, S. N. AU - Schoeb, T. R. AU - Messiaen, L. M. AU - Bedwell, D. M. AU - Zinn, K. R. AU - Anastasaki, C. AU - Gutmann, D. H. AU - Korf, B. R. AU - Kesterson, R. A. PY - 2016 DA - 2016// TI - Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I JO - Dis Model Mech VL - 9 UR - https://doi.org/10.1242/dmm.025783 DO - 10.1242/dmm.025783 ID - Li2016 ER - TY - JOUR AU - Toonen, J. A. AU - Anastasaki, C. AU - Smithson, L. J. AU - Gianino, S. M. AU - Li, K. AU - Kesterson, R. A. AU - Gutmann, D. H. PY - 2016 DA - 2016// TI - NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1 JO - Hum Mol Genet VL - 25 UR - https://doi.org/10.1093/hmg/ddw039 DO - 10.1093/hmg/ddw039 ID - Toonen2016 ER - TY - JOUR AU - Guo, X. AU - Pan, Y. AU - Gutmann, D. H. PY - 2019 DA - 2019// TI - Genetic and genomic alterations differentially dictate low-grade glioma growth through cancer stem cell–specific chemokine recruitment of T cells and microglia JO - Neuro-Oncol VL - 21 UR - https://doi.org/10.1093/neuonc/noz080 DO - 10.1093/neuonc/noz080 ID - Guo2019 ER - TY - JOUR AU - Brannan, C. I. AU - Perkins, A. S. AU - Vogel, K. S. AU - Ratner, N. AU - Nordlund, M. L. AU - Reid, S. W. AU - Buchberg, A. M. AU - Jenkins, N. A. AU - Parada, L. F. AU - Copeland, N. G. PY - 1994 DA - 1994// TI - Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues JO - Genes Dev VL - 8 UR - https://doi.org/10.1101/gad.8.9.1019 DO - 10.1101/gad.8.9.1019 ID - Brannan1994 ER - TY - JOUR AU - Jacks, T. AU - Shih, T. S. AU - Schmitt, E. M. AU - Bronson, R. T. AU - Bernards, A. AU - Weinberg, R. A. PY - 1994 DA - 1994// TI - Tumour predisposition in mice heterozygous for a targeted mutation in Nf1 JO - Nat Genet VL - 7 UR - https://doi.org/10.1038/ng0794-353 DO - 10.1038/ng0794-353 ID - Jacks1994 ER - TY - JOUR AU - Gutmann, D. H. AU - Giovannini, M. PY - 2002 DA - 2002// TI - Mouse models of neurofibromatosis 1 and 2 JO - Neoplasia VL - 4 UR - https://doi.org/10.1038/sj.neo.7900249 DO - 10.1038/sj.neo.7900249 ID - Gutmann2002 ER - TY - JOUR AU - Hampton, T. AU - Stasko, M. AU - Kale, A. AU - Amende, I. AU - Costa, A. PY - 2004 DA - 2004// TI - Gait dynamics in trisomic mice: quantitative neurological traits of Down syndrome JO - Physiol Behav VL - 82 UR - https://doi.org/10.1016/j.physbeh.2004.04.006 DO - 10.1016/j.physbeh.2004.04.006 ID - Hampton2004 ER - TY - JOUR AU - Hausdorff, J. M. AU - Zemany, L. AU - Peng, C. -. K. AU - Goldberger, A. L. PY - 1999 DA - 1999// TI - Maturation of gait dynamics: stride-to-stride variability and its temporal organization in children JO - J Appl Physiol VL - 86 UR - https://doi.org/10.1152/jappl.1999.86.3.1040 DO - 10.1152/jappl.1999.86.3.1040 ID - Hausdorff1999 ER - TY - JOUR AU - Nayate, A. AU - Tonge, B. J. AU - Bradshaw, J. L. AU - McGinley, J. L. AU - Iansek, R. AU - Rinehart, N. J. PY - 2012 DA - 2012// TI - Differentiation of high-functioning autism and Asperger’s disorder based on neuromotor behaviour JO - J Autism Dev Disord VL - 42 UR - https://doi.org/10.1007/s10803-011-1299-5 DO - 10.1007/s10803-011-1299-5 ID - Nayate2012 ER - TY - JOUR AU - Rinehart, N. J. AU - Tonge, B. J. AU - Bradshaw, J. L. AU - Iansek, R. AU - Enticott, P. G. AU - McGinley, J. PY - 2006 DA - 2006// TI - Gait function in high-functioning autism and Asperger’s disorder: evidence for basal-ganglia and cerebellar involvement? JO - Eur Child Adolesc Psychiatry VL - 15 UR - https://doi.org/10.1007/s00787-006-0530-y DO - 10.1007/s00787-006-0530-y ID - Rinehart2006 ER - TY - JOUR AU - Krebs, D. E. AU - Goldvasser, D. AU - Lockert, J. D. AU - Portney, L. G. AU - Gill-Body, K. M. PY - 2002 DA - 2002// TI - Is base of support greater in unsteady gait? JO - Phys Ther VL - 82 UR - https://doi.org/10.1093/ptj/82.2.138 DO - 10.1093/ptj/82.2.138 ID - Krebs2002 ER - TY - JOUR AU - Kopp, N. AU - McCullough, K. AU - Maloney, S. E. AU - Dougherty, J. D. PY - 2019 DA - 2019// TI - Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models JO - Hum Mol Genet VL - 28 UR - https://doi.org/10.1093/hmg/ddz176 DO - 10.1093/hmg/ddz176 ID - Kopp2019 ER - TY - JOUR AU - Kopp, N. D. AU - Nygaard, K. R. AU - Liu, Y. AU - McCullough, K. B. AU - Maloney, S. E. AU - Gabel, H. W. PY - 2020 DA - 2020// TI - Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences JO - Hum Mol Genet VL - 29 UR - https://doi.org/10.1093/hmg/ddaa070 DO - 10.1093/hmg/ddaa070 ID - Kopp2020 ER - TY - JOUR AU - Herbin, M. AU - Hackert, R. AU - Gasc, J. -. P. AU - Renous, S. PY - 2007 DA - 2007// TI - Gait parameters of treadmill versus overground locomotion in mouse JO - Behav Brain Res VL - 181 UR - https://doi.org/10.1016/j.bbr.2007.04.001 DO - 10.1016/j.bbr.2007.04.001 ID - Herbin2007 ER - TY - JOUR AU - Maloney, S. E. AU - Chandler, K. C. AU - Anastasaki, C. AU - Rieger, M. A. AU - Gutmann, D. H. AU - Dougherty, J. D. PY - 2018 DA - 2018// TI - Characterization of early communicative behavior in mouse models of neurofibromatosis type 1: early communicative behavior in NF1 models JO - Autism Res VL - 11 UR - https://doi.org/10.1002/aur.1853 DO - 10.1002/aur.1853 ID - Maloney2018 ER - TY - JOUR AU - Costa, R. M. AU - Federov, N. B. AU - Kogan, J. H. AU - Murphy, G. G. AU - Stern, J. AU - Ohno, M. AU - Kucherlapati, R. AU - Jacks, T. AU - Silva, A. J. PY - 2002 DA - 2002// TI - Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1 JO - Nature VL - 415 UR - https://doi.org/10.1038/nature711 DO - 10.1038/nature711 ID - Costa2002 ER - TY - STD TI - Brossier NM, Thondapu S, Cobb OM, Dahiya S, Gutmann DH. Temporal, spatial, and genetic constraints contribute to the patterning and penetrance of murine neurofibromatosis-1 optic glioma. Neuro-Oncol. 2020:noaa237. https://academic.oup.com/neuro-oncology/advance-article/doi/10.1093/neuonc/noaa237/5932401. UR - https://www.academic.oup.com/neuro-oncology/advance-article/doi/10.1093/neuonc/noaa237/5932401 ID - ref31 ER - TY - JOUR AU - Anastasaki, C. AU - Morris, S. M. AU - Gao, F. AU - Gutmann, D. H. PY - 2017 DA - 2017// TI - Children with 5′-end NF1 gene mutations are more likely to have glioma JO - Neurol Genet VL - 3 UR - https://doi.org/10.1212/NXG.0000000000000192 DO - 10.1212/NXG.0000000000000192 ID - Anastasaki2017 ER - TY - JOUR AU - Morris, S. M. AU - Gutmann, D. H. PY - 2018 DA - 2018// TI - A genotype-phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1 JO - Neurology VL - 90 UR - https://doi.org/10.1212/WNL.0000000000005000 DO - 10.1212/WNL.0000000000005000 ID - Morris2018 ER - TY - JOUR AU - Vogel Ciernia, A. AU - Pride, M. C. AU - Durbin-Johnson, B. AU - Noronha, A. AU - Chang, A. AU - Yasui, D. H. AU - Crawley, J. N. AU - LaSalle, J. M. PY - 2017 DA - 2017// TI - Early motor phenotype detection in a female mouse model of Rett syndrome is improved by cross-fostering JO - Hum Mol Genet VL - 26 UR - https://doi.org/10.1093/hmg/ddx087 DO - 10.1093/hmg/ddx087 ID - Vogel Ciernia2017 ER - TY - JOUR AU - Sagheer, T. AU - Haida, O. AU - Balbous, A. AU - Francheteau, M. AU - Matas, E. AU - Fernagut, P. -. O. PY - 2018 DA - 2018// TI - Motor impairments correlate with social deficits and restricted neuronal loss in an environmental model of autism JO - Int J Neuropsychopharmacol VL - 21 UR - https://doi.org/10.1093/ijnp/pyy043 DO - 10.1093/ijnp/pyy043 ID - Sagheer2018 ER - TY - JOUR AU - Jordan, K. AU - Challis, J. H. AU - Newell, K. M. PY - 2007 DA - 2007// TI - Walking speed influences on gait cycle variability JO - Gait Posture VL - 26 UR - https://doi.org/10.1016/j.gaitpost.2006.08.010 DO - 10.1016/j.gaitpost.2006.08.010 ID - Jordan2007 ER - TY - JOUR AU - Möckel, G. AU - Perka, C. AU - Labs, K. AU - Duda, G. PY - 2003 DA - 2003// TI - The influence of walking speed on kinetic and kinematic parameters in patients with osteoarthritis of the hip using a force-instrumented treadmill and standardised gait speeds JO - Arch Orthop Trauma Surg VL - 123 UR - https://doi.org/10.1007/s00402-003-0513-0 DO - 10.1007/s00402-003-0513-0 ID - Möckel2003 ER -