Characterizing Adversity of Lysosomal Accumulation in Nonclinical Toxicity Studies: Results from the 5th ESTP International Expert Workshop.

Lenz B, Braendli-Baiocco A, Engelhardt J, Fant P, Fischer H, Francke S, Fukuda R, GrĂśters S, Harada T, Harleman H, Kaufmann W, Kustermann S, Nolte T, Palazzi X, Pohlmeyer-Esch G, Popp A, Romeike A, Schulte A, Lima BS, Tomlinson L, Willard J, Wood CE, Yoshida M

Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.

O'Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Poon C, Mayor Torres JM, Nelson CA 3rd, Sahin M

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.

Clarkson T, LeBlanc J, DeGregorio G, Vogel-Farley V, Barnes K, Kaufmann WE, Nelson CA

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.

Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE

Recommendations for harmonization of data collection and analysis of developmental neurotoxicity endpoints in regulatory guideline studies: Proceedings of workshops presented at Society of Toxicology and joint Teratology Society and Neurobehavioral Teratology Society meetings.

Li AA, Sheets LP, Raffaele K, Moser V, Hofstra A, Hoberman A, Makris SL, Garman R, Bolon B, Kaufmann W, Auer R, Lau E, Vidmar T, Bowers WJ

Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine.

O'Leary HM, Mayor JM, Chi-Sang Poon, Kaufmann WE, Sahin M

Numbers of presynaptic Ca(2+) channel clusters match those of functionally defined vesicular docking sites in single central synapses.

Miki T, Kaufmann WA, Malagon G, Gomez L, Tabuchi K, Watanabe M, Shigemoto R, Marty A

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome.

Budimirovic DB, Berry-Kravis E, Erickson CA, Hall SS, Hessl D, Reiss AL, King MK, Abbeduto L, Kaufmann WE

Fragile X targeted pharmacotherapy: lessons learned and future directions.

Erickson CA, Davenport MH, Schaefer TL, Wink LK, Pedapati EV, Sweeney JA, Fitzpatrick SE, Brown WT, Budimirovic D, Hagerman RJ, Hessl D, Kaufmann WE, Berry-Kravis E

Arbaclofen in fragile X syndrome: results of phase 3 trials.

Berry-Kravis E, Hagerman R, Visootsak J, Budimirovic D, Kaufmann WE, Cherubini M, Zarevics P, Walton-Bowen K, Wang P, Bear MF, Carpenter RL

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.

Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, Stackhouse T, Riley C, Peacock G, Sherman SL, Brown WT, Berry-Kravis E

Locally Triggered Release of the Chemokine CCL21 Promotes Dendritic Cell Transmigration across Lymphatic Endothelia.

Vaahtomeri K, Brown M, Hauschild R, De Vries I, Leithner AF, Mehling M, Kaufmann WA, Sixt M

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.

Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK

A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.

Marschik PB, Pokorny FB, Peharz R, Zhang D, O'Muircheartaigh J, Roeyers H, BĂślte S, Spittle AJ, Urlesberger B, Schuller B, Poustka L, Ozonoff S, Pernkopf F, Pock T, Tammimies K, Enzinger C, Krieber M, Tomantschger I, Bartl-Pokorny KD, Sigafoos J, Roche L, Esposito G, Gugatschka M, Nielsen-Saines K, Einspieler C, Kaufmann WE, BEE-PRI Study Group