Benign SLC39A14 Course of Dystonia-Parkinsonism Secondary to Inherited Manganese Accumulation.

Marialuisa Quadri, Antonio Federico, Tianna Zhao, Guido J Breedveld, Carla Battisti, Cathérine Delnooz, Lies-Anne Severijnen, Lara Di Toro Mammarella, Andrea Mignarri, Lucia Monti, Antioco Sanna, Peng Lu, Francesca Punzo, Giovanni Cossu, Rob Willemsen, Fabrizio Rasi, Ben A Oostra, Bart P van de Warrenburg, Vincenzo Bonifati, None, Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease American Journal of Human Genetics. ,vol. 90, pp. 467- 477 ,(2012) , 10.1016/J.AJHG.2012.01.017

Wei Zheng, Yue-Ming Jiang, Yanshu Zhang, Wendy Jiang, Xueqian Wang, Dallas M. Cowan, Chelation therapy of manganese intoxication with para-aminosalicylic acid (PAS) in Sprague–Dawley rats NeuroToxicology. ,vol. 30, pp. 240- 248 ,(2009) , 10.1016/J.NEURO.2008.12.007

Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson, Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nature Communications. ,vol. 7, pp. 11601- 11601 ,(2016) , 10.1038/NCOMMS11601

Monica Juneja, Uzma Shamim, Aditi Joshi, Aaradhna Mathur, Bharathram Uppili, Smitha Sairam, Sakshi Ambawat, Rashmi Dixit, Mohammed Faruq, A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia. Journal of Gene Medicine. ,vol. 20, ,(2018) , 10.1002/JGM.3012

Adel Zeglam, Abdusalam Abugrara, Mariam Kabuka, Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14. Acta Neurologica Belgica. ,vol. 119, pp. 379- 384 ,(2019) , 10.1007/S13760-018-1024-7