First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene.

Christopher J. Klein, Xiaohui Duan, Michael E. Shy, INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE Muscle & Nerve. ,vol. 48, pp. 604- 622 ,(2013) , 10.1002/MUS.23775

Junhui Yuan, Yujiro Higuchi, Tatsui Nagado, Satoshi Nozuma, Tomonori Nakamura, Eiji Matsuura, Akihiro Hashiguchi, Yusuke Sakiyama, Akiko Yoshimura, Hiroshi Takashima, Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE Journal of The Peripheral Nervous System. ,vol. 18, pp. 89- 93 ,(2013) , 10.1111/JNS5.12012

Christopher J Klein, Maria-Victoria Botuyan, Yanhong Wu, Christopher J Ward, Garth A Nicholson, Simon Hammans, Kaori Hojo, Hiromitch Yamanishi, Adam R Karpf, Douglas C Wallace, Mariella Simon, Cecilie Lander, Lisa A Boardman, Julie M Cunningham, Glenn E Smith, William J Litchy, Benjamin Boes, Elizabeth J Atkinson, Sumit Middha, P James B Dyck, Joseph E Parisi, Georges Mer, David I Smith, Peter J Dyck, Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss Nature Genetics. ,vol. 43, pp. 595- 600 ,(2011) , 10.1038/NG.830

Jonathan Baets, Xiaohui Duan, Yanhong Wu, Gordon Smith, William W. Seeley, Inès Mademan, Nicole M. McGrath, Noah C. Beadell, Julie Khoury, Maria-Victoria Botuyan, Georges Mer, Gregory A. Worrell, Kaori Hojo, Jessica DeLeon, Matilde Laura, Yo-Tsen Liu, Jan Senderek, Joachim Weis, Peter Van den Bergh, Shana L. Merrill, Mary M. Reilly, Henry Houlden, Murray Grossman, Steven S. Scherer, Peter De Jonghe, Peter J. Dyck, Christopher J. Klein, Defects of mutant DNMT1 are linked to a spectrum of neurological disorders Brain. ,vol. 138, pp. 845- 861 ,(2015) , 10.1093/BRAIN/AWV010

Masashi Watanabe, Yushi Matsumoto, Kensho Okamoto, Bungo Okuda, Ikuko Mizuta, Toshiki Mizuno, 前頭葉症状で初発したhereditary sensory and autonomic neuropathy 1E（HSAN1E）の1例 Rinshō shinkeigaku Clinical neurology. ,vol. 57, pp. 753- 758 ,(2017) , 10.5692/CLINICALNEUROL.CN-001043

Wenxia Zheng, Zhenxing Yan, Rongni He, Yaowei Huang, Aiqun Lin, Wei Huang, Yuying Su, Shaoyuan Li, Victor Wei Zhang, Huifang Xie, Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE. BMC Neurology. ,vol. 18, pp. 174- ,(2018) , 10.1186/S12883-018-1177-2

Christopher J Klein, DNMT1-Related Disorder University of Washington, Seattle. ,(1993)