Rett Syndrome Natural History Protocol

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Rett syndrome: Revised diagnostic criteria and nomenclature

Jeffrey L. Neul, W. Kaufmann, D. Glaze, et al.. (2010). Annals of Neurology. Cited 1,268 times. https://doi.org/10.1002/ana.22124

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

J. Neul, P. Fang, J. Barrish, et al.. (2008). Neurology. Cited 495 times. https://doi.org/10.1212/01.wnl.0000291011.54508.aa

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

M. Ramocki, S. Peters, Y. J. Tavyev, et al.. (2009). Annals of Neurology. Cited 303 times. https://doi.org/10.1002/ana.21715

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

D. Gaudio, P. Fang, F. Scaglia, et al.. (2006). Genetics in Medicine. Cited 275 times. https://doi.org/10.1097/01.gim.0000250502.28516.3c

Investigating genotype–phenotype relationships in Rett syndrome using an international data set

A. Bebbington, Alison Anderson, D. Ravine, et al.. (2008). Neurology. Cited 251 times. https://doi.org/10.1212/01.wnl.0000304752.50773.ec

Epilepsy and the natural history of Rett syndrome

D. Glaze, Alan K. Percy, Steven A. Skinner, et al.. (2010). Neurology. Cited 213 times. https://doi.org/10.1212/WNL.0b013e3181d6b852

Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome

K. Motil, Erwin Caeg, J. Barrish, et al.. (2012). Journal of Pediatric Gastroenterology and Nutrition. Cited 176 times. https://doi.org/10.1097/MPG.0b013e31824b6159

Rett syndrome diagnostic criteria: Lessons from the Natural History Study

A. Percy, J. Neul, D. Glaze, et al.. (2010). Annals of Neurology. Cited 128 times. https://doi.org/10.1002/ana.22154

Early progressive encephalopathy in boys and MECP2 mutations

P. Kankirawatana, H. Leonard, C. Ellaway, et al.. (2006). Neurology. Cited 104 times. https://doi.org/10.1212/01.wnl.0000223318.28938.45

Longevity in Rett syndrome: analysis of the North American Database.

R. Kirby, J. Lane, Jerry Childers, et al.. (2010). The Journal of pediatrics. Cited 96 times. https://doi.org/10.1016/j.jpeds.2009.07.015

Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome

M. McCauley, Tiannan Wang, Elise V Mike, et al.. (2011). Science Translational Medicine. Cited 91 times. https://doi.org/10.1126/scitranslmed.3002982

Clinical severity and quality of life in children and adolescents with Rett syndrome

J. Lane, Hye-Seung Lee, L. W. Smith, et al.. (2011). Neurology. Cited 82 times. https://doi.org/10.1212/WNL.0b013e3182377dd2

Rett Syndrome: Model of Neurodevelopmental Disorders

A. Percy, J. Lane. (2005). Journal of Child Neurology. Cited 78 times. https://doi.org/10.1177/08830738050200090301

Profiling Scoliosis in Rett Syndrome

A. Percy, Hye-Seung Lee, J. Neul, et al.. (2010). Pediatric Research. Cited 70 times. https://doi.org/10.1203/PDR.0b013e3181d0187f

Bone Mineral Content and Bone Mineral Density Are Lower in Older Than in Younger Females With Rett Syndrome

K. Motil, K. Ellis, J. Barrish, et al.. (2008). Pediatric Research. Cited 58 times. https://doi.org/10.1203/PDR.0b013e318180ebcd

Rett syndrome: clinical and molecular update

A. Percy, J. Lane. (2004). Current Opinion in Pediatrics. Cited 56 times. https://doi.org/10.1097/01.mop.0000143693.59408.ce

Fractional Calcium Absorption Is Increased in Girls with Rett Syndrome

K. Motil, R. Schultz, S. Abrams, et al.. (2006). Journal of Pediatric Gastroenterology and Nutrition. Cited 44 times. https://doi.org/10.1097/01.mpg.0000189370.22288.0c

Vitamin D Deficiency Is Prevalent in Girls and Women With Rett Syndrome

K. Motil, J. Barrish, J. Lane, et al.. (2011). Journal of Pediatric Gastroenterology and Nutrition. Cited 39 times. https://doi.org/10.1097/MPG.0b013e3182267a66

Gastrostomy Placement Improves Height and Weight Gain in Girls With Rett Syndrome

K. Motil, M. Morrissey, Erwin Caeg, et al.. (2009). Journal of Pediatric Gastroenterology and Nutrition. Cited 37 times. https://doi.org/10.1097/MPG.0b013e31818f61fd

A Study of the Treatment of Rett Syndrome With Folate and Betaine

D. Glaze, A. Percy, K. Motil, et al.. (2009). Journal of Child Neurology. Cited 36 times. https://doi.org/10.1177/0883073808327827

Rett Syndrome: Recent Research Progress

A. Percy. (2008). Journal of Child Neurology. Cited 33 times. https://doi.org/10.1177/0883073807309786

Translational research: Rett syndrome and tuberous sclerosis complex

O. Khwaja, M. Sahin. (2011). Current Opinion in Pediatrics. Cited 24 times. https://doi.org/10.1097/MOP.0b013e32834c9251

Deep Sedation With Propofol in Patients With Rett Syndrome

N. Tofil, Mark A. Buckmaster, M. Winkler, et al.. (2006). Journal of Child Neurology. Cited 2 times. https://doi.org/10.2310/7010.2006.00051
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