Jeffrey L. Neul, Ph.D., M.D.

Professor

jeffrey.l.neul@vanderbilt.edu
Faculty Appointments
Professor of Pediatrics Professor of Special EducationAnnette Schaffer Eskind Chair in the Vanderbilt Kennedy CenterProfessor of Pharmacology
Education
M.D., University of Chicago Pritzker School of Medicine, Chicago, IllinoisPh.D., University of Chicago, Chicago, IllinoisB.S., Chemistry, University of Illinois, Urbana-Champaign, Illinois
Office Address
Vanderbilt Kennedy Center
PMB 40
230 Appleton Place
Nashville, TN 37203
Research Description
The Neul lab focuses on using animal and cellular models to understand the pathophysiology of neurodevelopmental disorders to develop and evaluate novel therapeutics. Specifically, the Neul lab focuses on Rett syndrome, a disorder that primarily affects girls and robs them of their ability to speak and use their hands. The majority of cases of Rett syndrome are caused by mutations in the epigenetic factor Methyl-CpG-binding Protein 2 (MECP2).

Dr. Neul is also deeply involved in human-oriented research on Rett syndrome and related neurodevelopmental disorders. He is the leader of a long-standing NIH-funded longitudinal natural history study of Rett syndrome and related disorders, conducts human genetic studies on these disorders, and is active as a clinical trialist of novel therapeutics.

Dr. Neul is the Director of the Vanderbilt Kennedy Center which is devoted to research and education on developmental disabilities.
Clinical Description
I am a child neurologist with a focus on neurodevelopmental and neurogenetic disorders. Specifically, I focus on Rett syndrome and other related disorders such as FOXG1 and CDKL5.
Research Keywords
Rett syndrome, Neurodevelopmental Disorders, Neurology, Neuroscience, Genetics, Epigenetics, Autism, Kennedy Center, Epilepsy, Preclinical, Translational, pluripotent stem cells, disease models, autonomic nervous system, breathing, apnea, hyperventilation, cardiac arrhythmia, sudden death, clinical trials, read-through drugs, growth factors, plasticity
Clinical Research Keywords
Neurodevelopmental disorders, neurogenetics, Rett syndrome, child neurology, clinical research, clinical trials, natural history
Publications
Sun JJ, Huang TW, Neul JL, Ray RS. Embryonic hindbrain patterning genes delineate distinct cardio-respiratory and metabolic homeostatic populations in the adult. Sci Rep. 2017 Aug 8/22/2017; 7(1): 9117. PMID: 28831138, PII: 10.1038/s41598-017-08810-4, DOI: 10.1038/s41598-017-08810-4, ISSN: 2045-2322.

Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr. Neurol [print-electronic]. 2017 May; 70: 20-5. PMID: 28347601, PMCID: PMC5461984, PII: S0887-8994(16)31033-5, DOI: 10.1016/j.pediatrneurol.2017.01.032, ISSN: 1873-5150.

Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Assessment of Caregiver Inventory for Rett Syndrome. J Autism Dev Disord. 2017 Apr; 47(4): 1102-12. PMID: 28132121, PMCID: PMC5357458, PII: 10.1007/s10803-017-3034-3, DOI: 10.1007/s10803-017-3034-3, ISSN: 1573-3432.

Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG. Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain [print-electronic]. 2017 Feb; 140(Pt 2): 306-18. PMID: 28007990, PMCID: PMC5278305, PII: aww302, DOI: 10.1093/brain/aww302, ISSN: 1460-2156.

Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet. Med [print-electronic]. 2017 Jan; 19(1): 13-9. PMID: 27171548, PMCID: PMC5107176, PII: gim201642, DOI: 10.1038/gim.2016.42, ISSN: 1530-0366.

Herrera JA, Ward CS, Wehrens XH, Neul JL. Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis. Hum. Mol. Genet. 2016 Nov 11/15/2016; 25(22): 4983-95. PMID: 28159985, PII: 2567811, DOI: 10.1093/hmg/ddw326, ISSN: 1460-2083.

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, Liu Z, Paylor R, Samaco RC. Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome. Hum. Mol. Genet [print-electronic]. 2016 Aug 8/1/2016; 25(15): 3284-302. PMID: 27365498, PMCID: PMC5179927, PII: ddw178, DOI: 10.1093/hmg/ddw178, ISSN: 1460-2083.

Meng X, Wang W, Lu H, He LJ, Chen W, Chao ES, 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. 2016 Jun 6/21/2016; 5: PMID: 27328325, PMCID: PMC4946906, DOI: 10.7554/eLife.14199, ISSN: 2050-084X.

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. J. Neurosci. 2016 May 5/18/2016; 36(20): 5572-86. PMID: 27194336, PMCID: PMC4871990, PII: 36/20/5572, DOI: 10.1523/JNEUROSCI.2330-15.2016, ISSN: 1529-2401.

Killian JT, Lane JB, Lee HS, Pelham JH, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. Pediatr. Neurol [print-electronic]. 2016 May; 58: 67-74. PMID: 26995066, PMCID: PMC4899118, PII: S0887-8994(15)30314-3, DOI: 10.1016/j.pediatrneurol.2015.12.021, ISSN: 1873-5150.

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. 2016; 11(11): e0165550. PMID: 27828991, PMCID: PMC5102405, PII: PONE-D-16-11130, DOI: 10.1371/journal.pone.0165550, ISSN: 1932-6203.

Yuengert R, Hori K, Kibodeaux EE, McClellan JX, Morales JE, Huang TW, Neul JL, Lai HC. Origin of a Non-Clarke's Column Division of the Dorsal Spinocerebellar Tract and the Role of Caudal Proprioceptive Neurons in Motor Function. Cell Rep [print-electronic]. 2015 Nov 11/10/2015; 13(6): 1258-71. PMID: 26527010, PMCID: PMC4644487, PII: S2211-1247(15)01106-7, DOI: 10.1016/j.celrep.2015.09.064, ISSN: 2211-1247.

Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK. The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Pediatr. Neurol [print-electronic]. 2015 Nov; 53(5): 402-11. PMID: 26278631, PMCID: PMC4609589, PII: S0887-8994(15)00281-7, DOI: 10.1016/j.pediatrneurol.2015.06.003, ISSN: 1873-5150.

Neul JL, Glaze DG, Percy AK, Feyma T, Beisang A, Dinh T, Suter B, Anagnostou E, Snape M, Horrigan J, Jones NE. Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale. J. Child Neurol [print-electronic]. 2015 Nov; 30(13): 1743-8. PMID: 25895911, PMCID: PMC4610825, PII: 0883073815579707, DOI: 10.1177/0883073815579707, ISSN: 1708-8283.

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, Lao U, Nourigat C, Flowers DA, Cullen S, Jorstad NL, Yang Y, Glaskova L, Vigneau S, Kozlitina J, Yetman MJ, Jankowsky JL, Reichardt SD, Reichardt HM, Gärtner J, Bartolomei MS, Fang M, Loeb K, Keene CD, Bernstein I, Goodell M, Brat DJ, Huppke P, Neul JL, Bedalov A, Pieper AA. Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome. Nature [print-electronic]. 2015 Sep 9/24/2015; 525(7570): 552. PMID: 26176914, PII: nature14671, DOI: 10.1038/nature14671, ISSN: 1476-4687.

Neul JL, Sahin M. Therapeutic Advances in Autism and Other Neurodevelopmental Disorders [editorial]. Neurotherapeutics. 2015 Jul; 12(3): 519-20. PMID: 26076992, PMCID: PMC4489958, DOI: 10.1007/s13311-015-0364-8, ISSN: 1878-7479.

Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O'Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK. Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. Pediatr. Neurol [print-electronic]. 2015 Jun; 52(6): 585-91.e2. PMID: 25801175, PMCID: PMC4442062, PII: S0887-8994(15)00090-9, DOI: 10.1016/j.pediatrneurol.2015.02.007, ISSN: 1873-5150.

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, Lao U, Nourigat C, Flowers DA, Cullen S, Jorstad NL, Yang Y, Glaskova L, Vingeau S, Kozlitina J, Yetman MJ, Jankowsky JL, Reichardt SD, Reichardt HM, Gärtner J, Bartolomei MS, Fang M, Loeb K, Keene CD, Bernstein I, Goodell M, Brat DJ, Huppke P, Neul JL, Bedalov A, Pieper AA. Wild-type microglia do not reverse pathology in mouse models of Rett syndrome [letter]. Nature. 2015 May 5/21/2015; 521(7552): E1-4. PMID: 25993969, PMCID: PMC4684952, PII: nature14444, DOI: 10.1038/nature14444, ISSN: 1476-4687.

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. Hum. Mol. Genet [print-electronic]. 2015 May 5/1/2015; 24(9): 2662-72. PMID: 25634563, PMCID: PMC4383870, PII: ddv030, DOI: 10.1093/hmg/ddv030, ISSN: 1460-2083.

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. Dis Model Mech [print-electronic]. 2015 Apr; 8(4): 363-71. PMID: 25713300, PMCID: PMC4381335, PII: dmm.020131, DOI: 10.1242/dmm.020131, ISSN: 1754-8411.

Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK. Pubertal development in Rett syndrome deviates from typical females. Pediatr. Neurol [print-electronic]. 2014 Dec; 51(6): 769-75. PMID: 25283752, PMCID: PMC4254166, PII: S0887-8994(14)00519-0, DOI: 10.1016/j.pediatrneurol.2014.08.013, ISSN: 1873-5150.

Glasgow SM, Zhu W, Stolt CC, Huang TW, Chen F, LoTurco JJ, Neul JL, Wegner M, Mohila C, Deneen B. Mutual antagonism between Sox10 and NFIA regulates diversification of glial lineages and glioma subtypes. Nat. Neurosci [print-electronic]. 2014 Oct; 17(10): 1322-9. PMID: 25151262, PMCID: PMC4313923, PII: nn.3790, DOI: 10.1038/nn.3790, ISSN: 1546-1726.

Motil KJ, Barrish JO, Neul JL, Glaze DG. Low bone mineral mass is associated with decreased bone formation and diet in girls with Rett syndrome. J. Pediatr. Gastroenterol. Nutr. 2014 Sep; 59(3): 386-92. PMID: 25144778, PMCID: PMC4144049, PII: 00005176-201409000-00023, DOI: 10.1097/MPG.0000000000000440, ISSN: 1536-4801.

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, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S, , Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar; 10(3): e1004258. PMID: 24676022, PMCID: PMC3967950, PII: PGENETICS-D-13-03436, DOI: 10.1371/journal.pgen.1004258, ISSN: 1553-7404.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J. Med. Genet [print-electronic]. 2014 Mar; 51(3): 152-8. PMID: 24399845, PMCID: PMC4403764, PII: jmedgenet-2013-102113, DOI: 10.1136/jmedgenet-2013-102113, ISSN: 1468-6244.

Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord. 2014 Mar; 44(3): 703-11. PMID: 23921973, PMCID: PMC3880396, DOI: 10.1007/s10803-013-1902-z, ISSN: 1573-3432.

Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK. Developmental delay in Rett syndrome: data from the natural history study. J Neurodev Disord [print-electronic]. 2014; 6(1): 20. PMID: 25071871, PMCID: PMC4112822, PII: 1866-1955-6-20, DOI: 10.1186/1866-1955-6-20, ISSN: 1866-1947.

Ramirez JM, Ward CS, Neul JL. Breathing challenges in Rett syndrome: lessons learned from humans and animal models. Respir Physiol Neurobiol [print-electronic]. 2013 Nov 11/1/2013; 189(2): 280-7. PMID: 23816600, PMCID: PMC3812329, PII: S1569-9048(13)00228-0, DOI: 10.1016/j.resp.2013.06.022, ISSN: 1878-1519.

Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, MacLeod P, Glaze DG, Motil KJ, Neul JL, Skinner SA, Kaufmann WE, Percy AK. Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. Am. J. Med. Genet. A [print-electronic]. 2013 Jul; 161A(7): 1638-46. PMID: 23696494, PMCID: PMC3689857, DOI: 10.1002/ajmg.a.35979, ISSN: 1552-4833.

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. Hum. Mol. Genet [print-electronic]. 2013 Jul 7/1/2013; 22(13): 2626-33. PMID: 23462290, PMCID: PMC3674803, PII: ddt111, DOI: 10.1093/hmg/ddt111, ISSN: 1460-2083.

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. Hum. Mol. Genet [print-electronic]. 2013 Jan 1/1/2013; 22(1): 96-109. PMID: 23026749, PMCID: PMC3522402, PII: dds406, DOI: 10.1093/hmg/dds406, ISSN: 1460-2083.

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. Sci Transl Med. 2012 Dec 12/5/2012; 4(163): 163ra158. PMID: 23220634, PMCID: PMC3628825, PII: 4/163/163ra158, DOI: 10.1126/scitranslmed.3004430, ISSN: 1946-6242.

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, Schaevitz LR, St Hillaire-Clarke C, Young JL, Zoghbi HY, Mamounas LA. Preclinical research in Rett syndrome: setting the foundation for translational success. Dis Model Mech. 2012 Nov; 5(6): 733-45. PMID: 23115203, PMCID: PMC3484856, PII: 5/6/733, DOI: 10.1242/dmm.011007, ISSN: 1754-8411.

Tarquinio DC, Motil KJ, Hou W, Lee HS, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK. Growth failure and outcome in Rett syndrome: specific growth references. Neurology [print-electronic]. 2012 Oct 10/16/2012; 79(16): 1653-61. PMID: 23035069, PMCID: PMC3468773, PII: WNL.0b013e31826e9a70, DOI: 10.1212/WNL.0b013e31826e9a70, ISSN: 1526-632X.

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. 2012 Sep 9/6/2012; 75(5): 799-809. PMID: 22958821, PMCID: PMC3464459, PII: S0896-6273(12)00589-2, DOI: 10.1016/j.neuron.2012.06.027, ISSN: 1097-4199.

Neul JL. The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues Clin Neurosci. 2012 Sep; 14(3): 253-62. PMID: 23226951, PMCID: PMC3513680, ISSN: 1958-5969.

Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, Annese F, McNair L, Skinner SA, Lee HS, Neul JL, Glaze DG. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. J. Pediatr. Gastroenterol. Nutr. 2012 Sep; 55(3): 292-8. PMID: 22331013, PMCID: PMC3393805, DOI: 10.1097/MPG.0b013e31824b6159, ISSN: 1536-4801.

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. Sci Transl Med. 2011 Dec 12/14/2011; 3(113): 113ra125. PMID: 22174313, PMCID: PMC3633081, PII: 3/113/113ra125, DOI: 10.1126/scitranslmed.3002982, ISSN: 1946-6242.

Lane JB, Lee HS, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Graham J, Khwaja O, Barnes K, Krischer JP. Clinical severity and quality of life in children and adolescents with Rett syndrome. Neurology [print-electronic]. 2011 Nov 11/15/2011; 77(20): 1812-8. PMID: 22013176, PMCID: PMC3233210, PII: WNL.0b013e3182377dd2, DOI: 10.1212/WNL.0b013e3182377dd2, ISSN: 1526-632X.

Neul JL. Unfolding neurodevelopmental disorders: the mystery of developing connections. Nat. Med. 2011 Nov 11/2/2011; 17(11): 1353-5. PMID: 22064413, PMCID: PMC3629696, PII: nm.2552, DOI: 10.1038/nm.2552, ISSN: 1546-170X.

Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, McNair L, Percy AK, Skinner SA, Neul JL, Glaze DG. Vitamin D deficiency is prevalent in girls and women with Rett syndrome. J. Pediatr. Gastroenterol. Nutr. 2011 Nov; 53(5): 569-74. PMID: 21637127, PMCID: PMC3638258, DOI: 10.1097/MPG.0b013e3182267a66, ISSN: 1536-4801.

Ward CS, Arvide EM, Huang TW, Yoo J, Noebels JL, Neul JL. MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. J. Neurosci. 2011 Jul 7/13/2011; 31(28): 10359-70. PMID: 21753013, PMCID: PMC3175623, PII: 31/28/10359, DOI: 10.1523/JNEUROSCI.0057-11.2011, ISSN: 1529-2401.

Samaco RC, Neul JL. Complexities of Rett syndrome and MeCP2. J. Neurosci. 2011 Jun 6/1/2011; 31(22): 7951-9. PMID: 21632916, PMCID: PMC3127460, PII: 31/22/7951, DOI: 10.1523/JNEUROSCI.0169-11.2011, ISSN: 1529-2401.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK, . Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 2010 Dec; 68(6): 944-50. PMID: 21154482, PMCID: PMC3058521, DOI: 10.1002/ana.22124, ISSN: 1531-8249.

Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K. Rett syndrome diagnostic criteria: lessons from the Natural History Study. Ann. Neurol. 2010 Dec; 68(6): 951-5. PMID: 21104896, PMCID: PMC3021984, DOI: 10.1002/ana.22154, ISSN: 1531-8249.

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. 2010 Nov 11/11/2010; 468(7321): 263-9. PMID: 21068835, PMCID: PMC3057962, PII: nature09582, DOI: 10.1038/nature09582, ISSN: 1476-4687.

Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG. Profiling scoliosis in Rett syndrome. Pediatr. Res. 2010 Apr; 67(4): 435-9. PMID: 20032810, PMCID: PMC2852102, DOI: 10.1203/PDR.0b013e3181d0187f, ISSN: 1530-0447.

Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS. Epilepsy and the natural history of Rett syndrome. Neurology. 2010 Mar 3/16/2010; 74(11): 909-12. PMID: 20231667, PMCID: PMC2836870, PII: 74/11/909, DOI: 10.1212/WNL.0b013e3181d6b852, ISSN: 1526-632X.

Neul JL. Interested in a career as a clinician-scientist? [editorial]. Dis Model Mech. 2010 Mar; 3(3-4): 125-30. PMID: 20212077, PII: 3/3-4/125, DOI: 10.1242/dmm.005462, ISSN: 1754-8411.

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. Proc. Natl. Acad. Sci. U.S.A [print-electronic]. 2009 Dec 12/22/2009; 106(51): 21966-71. PMID: 20007372, PMCID: PMC2799790, PII: 0912257106, DOI: 10.1073/pnas.0912257106, ISSN: 1091-6490.

Glaze DG, Percy AK, Motil KJ, Lane JB, Isaacs JS, Schultz RJ, Barrish JO, Neul JL, O'Brien WE, Smith EO. A study of the treatment of Rett syndrome with folate and betaine. J. Child Neurol [print-electronic]. 2009 May; 24(5): 551-6. PMID: 19225139, PMCID: PMC2760386, PII: 0883073808327827, DOI: 10.1177/0883073808327827, ISSN: 1708-8283.

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. 2008 Sep 9/25/2008; 59(6): 947-58. PMID: 18817733, PMCID: PMC2597031, PII: S0896-6273(08)00629-6, DOI: 10.1016/j.neuron.2008.07.030, ISSN: 1097-4199.

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. Hum. Mol. Genet [print-electronic]. 2008 Jun 6/15/2008; 17(12): 1718-27. PMID: 18321864, PMCID: PMC2666042, PII: ddn062, DOI: 10.1093/hmg/ddn062, ISSN: 1460-2083.

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 [print-electronic]. 2008 Apr 4/15/2008; 70(16): 1313-21. PMID: 18337588, PMCID: PMC2677974, PII: 01.wnl.0000291011.54508.aa, DOI: 10.1212/01.wnl.0000291011.54508.aa, ISSN: 1526-632X.

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, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet. Med. 2006 Dec; 8(12): 784-92. PMID: 17172942, PII: 00125817-200612000-00008, DOI: 10.109701.gim.0000250502.28516.3c, ISSN: 1098-3600.

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. 2005 Jun 6/28/2005; 64(12): 2151-2. PMID: 15985595, PII: 64/12/2151, DOI: 10.1212/01.WNL.0000166032.58239.6C, ISSN: 1526-632X.

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, Scaglia F. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 2005 Mar 3/22/2005; 64(6): 1088-90. PMID: 15781839, PII: 64/6/1088, DOI: 10.1212/01.WNL.0000154641.08211.B7, ISSN: 1526-632X.

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. 2004 Nov; 114(5): e626-33. PMID: 15520093, PII: 114/5/e626, DOI: 10.1542/peds.2004-0143, ISSN: 1098-4275.

Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr; 10(2): 118-28. PMID: 15070486, DOI: 10.1177/1073858403260995, ISSN: 1073-8584.

Neul JL, Ferguson EL. Spatially restricted activation of the SAX receptor by SCW modulates DPP/TKV signaling in Drosophila dorsal-ventral patterning. Cell. 1998 Nov 11/13/1998; 95(4): 483-94. PMID: 9827801, PII: S0092-8674(00)81616-5, ISSN: 0092-8674.

Holley SA, Neul JL, Attisano L, Wrana JL, Sasai Y, O'Connor MB, De Robertis EM, Ferguson EL. The Xenopus dorsalizing factor noggin ventralizes Drosophila embryos by preventing DPP from activating its receptor. Cell. 1996 Aug 8/23/1996; 86(4): 607-17. PMID: 8752215, PII: S0092-8674(00)80134-8, ISSN: 0092-8674.