Year |
Citation |
Score |
2024 |
Gold WA, Percy AK, Neul JL, Cobb SR, Pozzo-Miller L, Issar JK, Ben-Zeev B, Vignoli A, Kaufmann WE. Rett syndrome. Nature Reviews. Disease Primers. 10: 84. PMID 39511247 DOI: 10.1038/s41572-024-00568-0 |
0.363 |
|
2024 |
Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY. Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Human Molecular Genetics. PMID 39277796 DOI: 10.1093/hmg/ddae135 |
0.786 |
|
2024 |
Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing. American Journal of Medical Genetics. Part A. e63725. PMID 38775384 DOI: 10.1002/ajmg.a.63725 |
0.314 |
|
2024 |
Kennedy M, Glass L, Glaze DG, Kaminsky S, Percy AK, Neul JL, Jones NE, Tropea D, Horrigan JP, Nues P, Bishop KM, Youakim JM. Development of trofinetide for the treatment of Rett syndrome: from bench to bedside. Frontiers in Pharmacology. 14: 1341746. PMID 38318312 DOI: 10.3389/fphar.2023.1341746 |
0.355 |
|
2022 |
Collins BE, Neul JL. Rett Syndrome and Duplication Syndrome: Disorders of MeCP2 Dosage. Neuropsychiatric Disease and Treatment. 18: 2813-2835. PMID 36471747 DOI: 10.2147/NDT.S371483 |
0.396 |
|
2022 |
Erickson KR, Farmer R, Merritt JK, Miletic Lanaghan Z, Does MD, Ramadass K, Landman BA, Cutting LE, Neul JL. Behavioral and brain anatomical analysis of Foxg1 heterozygous mice. Plos One. 17: e0266861. PMID 36223387 DOI: 10.1371/journal.pone.0266861 |
0.403 |
|
2021 |
McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, et al. Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Human Mutation. PMID 34837432 DOI: 10.1002/humu.24302 |
0.57 |
|
2021 |
Collins BE, Merritt JK, Erickson KR, Neul JL. Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome. Genes, Brain, and Behavior. e12739. PMID 33942492 DOI: 10.1111/gbb.12739 |
0.36 |
|
2020 |
Ward CS, Huang TW, Herrera JA, Samaco RC, McGraw CM, Parra DE, Arvide EM, Ito-Ishida A, Meng X, Ure K, Zoghbi HY, Neul JL. Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia. Frontiers in Neurology. 11: 593554. PMID 33193060 DOI: 10.3389/fneur.2020.593554 |
0.788 |
|
2020 |
Dong HW, Erickson K, Lee JR, Merritt J, Fu C, Neul JL. Detection of neurophysiological features in female R255X MeCP2 mutation mice. Neurobiology of Disease. 105083. PMID 32927061 DOI: 10.1016/j.nbd.2020.105083 |
0.332 |
|
2020 |
Peters SU, Fu C, Neul JL, Granger DA. Cortisol profiles and clinical severity in MECP2 duplication syndrome. Journal of Neurodevelopmental Disorders. 12: 19. PMID 32698758 DOI: 10.1186/s11689-020-09322-5 |
0.316 |
|
2020 |
Merritt JK, Collins BE, Erickson KR, Dong H, Neul JL. Pharmacological readthrough of R294X Mecp2 in a novel mouse model of Rett Syndrome. Human Molecular Genetics. PMID 32469049 DOI: 10.1093/hmg/ddaa102 |
0.372 |
|
2016 |
Herrera JA, Ward CS, Wehrens XH, Neul JL. Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis. Human Molecular Genetics. 25: 4983-4995. PMID 28159985 DOI: 10.1093/hmg/ddw326 |
0.564 |
|
2016 |
Ward CS, Huang TW, Herrera JA, Samaco RC, Pitcher MR, Herron A, Skinner SA, Kaufmann WE, Glaze DG, Percy AK, Neul JL. Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome. Plos One. 11: e0165550. PMID 27828991 DOI: 10.1371/journal.pone.0165550 |
0.782 |
|
2016 |
Herrera JA, Ward CS, Wehrens XH, Neul JL. Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis. Human Molecular Genetics. PMID 27794538 DOI: 10.1093/hmg/ddw326 |
0.609 |
|
2016 |
Veeraragavan S, Wan YW, Connolly DR, Hamilton SM, Ward CS, Soriano S, Pitcher MR, McGraw CM, Huang SG, Green JR, Yuva LA, Liang AJ, Neul JL, Yasui DH, LaSalle JM, et al. Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome. Human Molecular Genetics. PMID 27365498 DOI: 10.1093/Hmg/Ddw178 |
0.791 |
|
2016 |
Meng X, Wang W, Lu H, He LJ, Chen W, Chao E, Fiorotto ML, Tang B, Herrera JA, Seymour ML, Neul JL, Pereira FA, Tang J, Xue M, Zoghbi HY. Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders. Elife. 5. PMID 27328325 DOI: 10.7554/Elife.14199 |
0.814 |
|
2016 |
Huang TW, Kochukov MY, Ward CS, Merritt J, Thomas K, Nguyen T, Arenkiel BR, Neul JL. Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 36: 5572-86. PMID 27194336 DOI: 10.1523/JNEUROSCI.2330-15.2016 |
0.608 |
|
2015 |
Wang J, Wegener JE, Huang TW, Sripathy S, De Jesus-Cortes H, Xu P, Tran S, Knobbe W, Leko V, Britt J, Starwalt R, McDaniel L, Ward CS, Parra D, Newcomb B, ... ... Neul JL, et al. Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome. Nature. PMID 26176914 DOI: 10.1038/Nature14671 |
0.517 |
|
2015 |
Neul JL, Sahin M. Therapeutic Advances in Autism and Other Neurodevelopmental Disorders. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 12: 519-20. PMID 26076992 DOI: 10.1007/S13311-015-0364-8 |
0.32 |
|
2015 |
Wang J, Wegener JE, Huang TW, Sripathy S, De Jesus-Cortes H, Xu P, Tran S, Knobbe W, Leko V, Britt J, Starwalt R, McDaniel L, Ward CS, Parra D, Newcomb B, ... ... Neul JL, et al. Wild-type microglia do not reverse pathology in mouse models of Rett syndrome. Nature. 521: E1-4. PMID 25993969 DOI: 10.1038/Nature14444 |
0.6 |
|
2015 |
Herrera JA, Ward CS, Pitcher MR, Percy AK, Skinner S, Kaufmann WE, Glaze DG, Wehrens XH, Neul JL. Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs. Disease Models & Mechanisms. 8: 363-71. PMID 25713300 DOI: 10.1242/dmm.020131 |
0.507 |
|
2015 |
Pitcher MR, Herrera JA, Buffington SA, Kochukov MY, Merritt JK, Fisher AR, Schanen NC, Costa-Mattioli M, Neul JL. Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. Human Molecular Genetics. 24: 2662-72. PMID 25634563 DOI: 10.1093/Hmg/Ddv030 |
0.326 |
|
2014 |
Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. Plos Genetics. 10: e1004258. PMID 24676022 DOI: 10.1371/Journal.Pgen.1004258 |
0.529 |
|
2014 |
Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief report: MECP2 mutations in people without Rett syndrome. Journal of Autism and Developmental Disorders. 44: 703-11. PMID 23921973 DOI: 10.1007/s10803-013-1902-z |
0.639 |
|
2013 |
Ramirez JM, Ward CS, Neul JL. Breathing challenges in Rett syndrome: lessons learned from humans and animal models. Respiratory Physiology & Neurobiology. 189: 280-7. PMID 23816600 DOI: 10.1016/J.Resp.2013.06.022 |
0.567 |
|
2013 |
Pitcher MR, Ward CS, Arvide EM, Chapleau CA, Pozzo-Miller L, Hoeflich A, Sivaramakrishnan M, Saenger S, Metzger F, Neul JL. Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function. Human Molecular Genetics. 22: 2626-33. PMID 23462290 DOI: 10.1093/hmg/ddt111 |
0.57 |
|
2013 |
Samaco RC, McGraw CM, Ward CS, Sun Y, Neul JL, Zoghbi HY. Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Human Molecular Genetics. 22: 96-109. PMID 23026749 DOI: 10.1093/hmg/dds406 |
0.795 |
|
2012 |
Neul JL. The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues in Clinical Neuroscience. 14: 253-62. PMID 23226951 |
0.367 |
|
2012 |
Yang T, Ramocki MB, Neul JL, Lu W, Roberts L, Knight J, Ward CS, Zoghbi HY, Kheradmand F, Corry DB. Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. Science Translational Medicine. 4: 163ra158. PMID 23220634 DOI: 10.1126/scitranslmed.3004430 |
0.766 |
|
2012 |
Katz DM, Berger-Sweeney JE, Eubanks JH, Justice MJ, Neul JL, Pozzo-Miller L, Blue ME, Christian D, Crawley JN, Giustetto M, Guy J, Howell CJ, Kron M, Nelson SB, Samaco RC, et al. Preclinical research in Rett syndrome: setting the foundation for translational success. Disease Models & Mechanisms. 5: 733-45. PMID 23115203 DOI: 10.1242/Dmm.011007 |
0.777 |
|
2012 |
Huang WH, Tupal S, Huang TW, Ward CS, Neul JL, Klisch TJ, Gray PA, Zoghbi HY. Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood. Neuron. 75: 799-809. PMID 22958821 DOI: 10.1016/J.Neuron.2012.06.027 |
0.792 |
|
2011 |
McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, Ward CS, Skinner S, Percy AK, Glaze DG, Wehrens XH, Neul JL. Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome. Science Translational Medicine. 3: 113ra125. PMID 22174313 DOI: 10.1126/scitranslmed.3002982 |
0.608 |
|
2011 |
Ward CS, Arvide EM, Huang TW, Yoo J, Noebels JL, Neul JL. MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 10359-70. PMID 21753013 DOI: 10.1523/JNEUROSCI.0057-11.2011 |
0.626 |
|
2011 |
Samaco RC, Neul JL. Complexities of Rett syndrome and MeCP2. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 7951-9. PMID 21632916 DOI: 10.1523/JNEUROSCI.0169-11.2011 |
0.689 |
|
2010 |
Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 468: 263-9. PMID 21068835 DOI: 10.1038/Nature09582 |
0.797 |
|
2009 |
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proceedings of the National Academy of Sciences of the United States of America. 106: 21966-71. PMID 20007372 DOI: 10.1073/pnas.0912257106 |
0.789 |
|
2008 |
Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 59: 947-58. PMID 18817733 DOI: 10.1016/J.Neuron.2008.07.030 |
0.779 |
|
2008 |
Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 70: 1313-21. PMID 18337588 DOI: 10.1212/01.wnl.0000291011.54508.aa |
0.599 |
|
2008 |
Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Human Molecular Genetics. 17: 1718-27. PMID 18321864 DOI: 10.1093/Hmg/Ddn062 |
0.773 |
|
2006 |
del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 784-92. PMID 17172942 DOI: 10.1097/01.gim.0000250502.28516.3c |
0.675 |
|
2005 |
Neul JL, Maricich SM, Islam M, Barrish J, Smith EO, Bottiglieri T, Hyland K, Humphreys P, Percy A, Glaze D. Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome. Neurology. 64: 2151-2. PMID 15985595 DOI: 10.1212/01.Wnl.0000166032.58239.6C |
0.627 |
|
2005 |
Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, et al. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 64: 1088-90. PMID 15781839 DOI: 10.1212/01.Wnl.0000154641.08211.B7 |
0.447 |
|
2004 |
Maricich SM, Neul JL, Lotze TE, Cazacu AC, Uyeki TM, Demmler GJ, Clark GD. Neurologic complications associated with influenza A in children during the 2003-2004 influenza season in Houston, Texas. Pediatrics. 114: e626-33. PMID 15520093 DOI: 10.1542/peds.2004-0143 |
0.614 |
|
2004 |
Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry. 10: 118-28. PMID 15070486 DOI: 10.1177/1073858403260995 |
0.677 |
|
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