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Select item 54474001.

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

Fiore Manganelli, Silvia Parisi, Maria Nolano, Feifei Tao, Simona Paladino, Chiara Pisciotta, Stefano Tozza, Claudia Nesti, Adriana P. Rebelo, Vincenzo Provitera, Filippo M. Santorelli, Michael E. Shy, Tommaso Russo, Stephan Zuchner, Lucio Santoro

Neurology. 2017 May 30; 88(22): 2132–2140. doi: 10.1212/WNL.0000000000003992

PMCID:: PMC5447400

Abstract Article PDF–831K

Select item 69751762.

HSAN-VI: A spectrum disorder based on dystonin isoform expression

Anisha Lynch-Godrei, Rashmi Kothary

Neurol Genet. 2020 Feb; 6(1): e389. Published online 2020 Jan 2. doi: 10.1212/NXG.0000000000000389

PMCID:: PMC6975176

Abstract Article PDF–285K

Select item 45906033.

Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice

Andrew Ferrier, Yves De Repentigny, Anisha Lynch-Godrei, Sabrina Gibeault, Walaa Eid, Daniel Kuo, Xiaohui Zha, Rashmi Kothary

Autophagy. 2015 Jul; 11(7): 1025–1036. Published online 2015 Jun 4. doi: 10.1080/15548627.2015.1052207

PMCID:: PMC4590603

Abstract Article PDF–1.0M

Select item 93653874.

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

Nozomu Yoshioka, Masayuki Kurose, Masato Yano, Dang Minh Tran, Shujiro Okuda, Yukiko Mori-Ochiai, Masao Horie, Toshihiro Nagai, Ichizo Nishino, Shinsuke Shibata, Hirohide Takebayashi

eLife. 2022; 11: e78419. Published online 2022 Aug 9. doi: 10.7554/eLife.78419

PMCID:: PMC9365387

Abstract Article PDF–21M

Select item 95106005.

Anesthetic management of a child with congenital insensitivity to pain with anhidrosis: A case report

Ying Zhang, Zhiyu Geng

Front Surg. 2022; 9: 997162. Published online 2022 Sep 12. doi: 10.3389/fsurg.2022.997162

PMCID:: PMC9510600

Abstract Article PDF–122K

Select item 72629646.

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

Jie-Yuan Jin, Pan-Feng Wu, Ji-Qiang He, Liang-Liang Fan, Zhuang-Zhuang Yuan, Xiao-Yang Pang, Ju-Yu Tang, Li-Yang Zhang

Front Genet. 2020; 11: 492. Published online 2020 May 25. doi: 10.3389/fgene.2020.00492

PMCID:: PMC7262964

Abstract Article PDF–782K

Select item 50140767.

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

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

Brain. 2015 Apr; 138(4): 845–861. Published online 2015 Feb 10. doi: 10.1093/brain/awv010

PMCID:: PMC5014076

Abstract Article PDF–1.4M

Select item 48409528.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Dana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, Andreas Ferbert, Jana Haberlova, Radim Mazanec, Petra Lassuthova, Christian Roth, Thanita Pilunthanakul, Bernd Rautenstrauss, Andreas R. Janecke, Petra Zavadakova, Roman Chrast, Carlo Rivolta, Stephan Zuchner, Anthony Antonellis, Asim A. Beg, Peter De Jonghe, Jan Senderek, Pavel Seeman, Jonathan Baets

Brain. 2015 Aug; 138(8): 2161–2172. Published online 2015 Jun 13. doi: 10.1093/brain/awv158

PMCID:: PMC4840952

Abstract Article PDF–500K

Select item 47575449.

Cytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS Myelination

Samantha F. Kornfeld, Anisha Lynch-Godrei, Sawyer R. Bonin, Sabrina Gibeault, Yves De Repentigny, Rashmi Kothary

PLoS One. 2016; 11(2): e0149201. Published online 2016 Feb 17. doi: 10.1371/journal.pone.0149201

PMCID:: PMC4757544

Abstract Article PDF–13M

Select item 320394210.

Deletion of Exon 20 of the Familial Dysautonomia Gene Ikbkap in Mice Causes Developmental Delay, Cardiovascular Defects, and Early Embryonic Lethality

Paula Dietrich, Junming Yue, Shuyu E., Ioannis Dragatsis

PLoS One. 2011; 6(10): e27015. Published online 2011 Oct 28. doi: 10.1371/journal.pone.0027015

PMCID:: PMC3203942

Abstract Article PDF–2.6M

Select item 461355911.

The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception

Vanja Nagy, Tiffany Cole, Claude Van Campenhout, Thang M Khoung, Calvin Leung, Simon Vermeiren, Maria Novatchkova, Daniel Wenzel, Domagoj Cikes, Anton A Polyansky, Ivona Kozieradzki, Arabella Meixner, Eric J Bellefroid, G Gregory Neely, Josef M Penninger

Cell Cycle. 2015 Jun 15; 14(12): 1799–1808. Published online 2015 Apr 18. doi: 10.1080/15384101.2015.1036209

Correction in:: Cell Cycle. 2015; 14(19): 3203.

PMCID:: PMC4613559

Abstract Article PDF–989K

Select item 501592712.

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

Oliver P. Forman, Rebekkah J. Hitti, Louise Pettitt, Christopher A. Jenkins, Dennis P. O’Brien, G. Diane Shelton, Luisa De Risio, Rodrigo Gutierrez Quintana, Elsa Beltran, Cathryn Mellersh

G3 (Bethesda) 2016 Sep; 6(9): 2687–2692. Published online 2016 Aug 15. doi: 10.1534/g3.116.027896

PMCID:: PMC5015927

Abstract Article PDF–1.1M

Select item 507396413.

Keiko Yamada, Junhui Yuan, Tomoo Mano, Hiroshi Takashima, Masahiko Shibata

BMC Neurol. 2016; 16: 201. Published online 2016 Oct 21. doi: 10.1186/s12883-016-0727-8

PMCID:: PMC5073964

Abstract Article PDF–1001K

Select item 519899514.

A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies

Jocelyn Plassais, Laetitia Lagoutte, Solenne Correard, Manon Paradis, Eric Guaguère, Benoit Hédan, Alix Pommier, Nadine Botherel, Marie-Christine Cadiergues, Philippe Pilorge, David Silversides, Maud Bizot, Mark Samuels, Carme Arnan, Rory Johnson, Christophe Hitte, Gilles Salbert, Agnès Méreau, Pascale Quignon, Thomas Derrien, Catherine André

PLoS Genet. 2016 Dec; 12(12): e1006482. Published online 2016 Dec 29. doi: 10.1371/journal.pgen.1006482

PMCID:: PMC5198995

Abstract Article PDF–2.0M

Select item 455379515.

Dimerization of elongator protein 1 is essential for Elongator complex assembly

Huisha Xu, Zhijie Lin, Fengzhi Li, Wentao Diao, Chunming Dong, Hao Zhou, Xingqiao Xie, Zheng Wang, Yuequan Shen, Jiafu Long

Proc Natl Acad Sci U S A. 2015 Aug 25; 112(34): 10697–10702. Published online 2015 Aug 10. doi: 10.1073/pnas.1502597112

PMCID:: PMC4553795

Abstract Article PDF–1.2M

Select item 399016816.

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

Andrew Ferrier, Tadasu Sato, Yves De Repentigny, Sabrina Gibeault, Kunal Bhanot, Ryan W. O'Meara, Anisha Lynch-Godrei, Samantha F. Kornfeld, Kevin G. Young, Rashmi Kothary

Hum Mol Genet. 2014 May 15; 23(10): 2694–2710. Published online 2013 Dec 30. doi: 10.1093/hmg/ddt663

PMCID:: PMC3990168

Abstract Article PDF–2.9M

Select item 539729717.

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, Quang T Le, Ali Jamil, Yun Bai, Nancy Ho, Ming Zhao, Yihui Liu, Michael P O’Connell, Neil N Trivedi, Celeste Nelson, Thomas DiMaggio, Nina Jones, Helen Matthews, Katie L Lewis, Andrew J Oler, Ryan J Carlson, Peter D Arkwright, Celine Hong, Sherene Agama, Todd M Wilson, Sofie Tucker, Yu Zhang, Joshua J McElwee, Maryland Pao, Sarah C Glover, Marc E Rothenberg, Robert J Hohman, Kelly D Stone, George H Caughey, Theo Heller, Dean D Metcalfe, Leslie G Biesecker, Lawrence B Schwartz, Joshua D Milner

Nat Genet. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Nat Genet. 2016 Dec; 48(12): 1564–1569. Published online 2016 Oct 17. doi: 10.1038/ng.3696

PMCID:: PMC5397297

Abstract Article PDF–484K

Select item 371117718.

Identification of Compounds that Rescue IKBKAP Expression in Familial Dysautonomia-iPS Cells

Gabsang Lee, Christina N. Ramirez, Hyesoo Kim, Nadja Zeltner, Becky Liu, Constantin Radu, Bhavneet Bhinder, Yong Jun Kim, InYoung Choi, Bipasha Mukherjee-Clavin, Hakim Djaballah, Lorenz Studer

Nat Biotechnol. Author manuscript; available in PMC 2013 Jul 15.

Published in final edited form as: Nat Biotechnol. 2012 Dec; 30(12): 1244–1248. Published online 2012 Nov 25. doi: 10.1038/nbt.2435