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Select item 65373751.

The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA

James Jiqi Wang, Bo Yu, Zongzhe Li

BMC Med Genet. 2019; 20: 91. Published online 2019 May 27. doi: 10.1186/s12881-019-0828-5

PMCID:: PMC6537375

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Select item 62629712.

A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

Behrouz Rahmani, Fatemeh Fekrmandi, Keivan Ahadi, Tannaz Ahadi, Afagh Alavi, Abolhassan Ahmadiani, Sareh Asadi

BMC Neurol. 2018; 18: 195. Published online 2018 Nov 29. doi: 10.1186/s12883-018-1201-6

PMCID:: PMC6262971

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Select item 57455253.

The Hajdu Cheney Mutation Is a Determinant of B-Cell Allocation of the Splenic Marginal Zone

Jungeun Yu, Stefano Zanotti, Bhavita Walia, Evan Jellison, Archana Sanjay, Ernesto Canalis

Am J Pathol. 2018 Jan; 188(1): 149–159. doi: 10.1016/j.ajpath.2017.09.010

PMCID:: PMC5745525

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Select item 106161604.

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

Anastasia Schultz, Shun-Yun Cheng, Emily Kirchner, Stephanann Costello, Heini Miettinen, Marta Chaverra, Colin King, Lynn George, Xin Zhao, Jana Narasimhan, Marla Weetall, Susan Slaugenhaupt, Elisabetta Morini, Claudio Punzo, Frances Lefcort

Sci Rep. 2023; 13: 18600. Published online 2023 Oct 30. doi: 10.1038/s41598-023-45376-w

PMCID:: PMC10616160

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Select item 102280595.

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients

Boushra Khaled, Mahmoud Alzahayqa, Ahmad Jaffal, Husam Sallam, Rua’a Thawabta, Mamoun Mansour, Akram Alian, Zaidoun Salah

BMC Med Genomics. 2023; 16: 120. Published online 2023 May 30. doi: 10.1186/s12920-023-01544-5

PMCID:: PMC10228059

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Select item 101375656.

Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

Lindsey M. Q. Wilson, Sadaf Saba, Jun Li, Lev Prasov, Jason M. L. Miller

Genes (Basel) 2023 Apr; 14(4): 931. Published online 2023 Apr 18. doi: 10.3390/genes14040931

PMCID:: PMC10137565

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Select item 100775107.

Human TrkA^R649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV

Paola Pacifico, Giovanna Testa, Rosy Amodeo, Marco Mainardi, Alexia Tiberi, Domenica Convertino, Juan Carlos Arevalo, Laura Marchetti, Mario Costa, Antonino Cattaneo, Simona Capsoni

Hum Mol Genet. 2023 Apr 15; 32(8): 1380–1400. Published online 2022 Dec 20. doi: 10.1093/hmg/ddac295

PMCID:: PMC10077510

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Select item 100274798.

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

Elisabetta Morini, Anil Chekuri, Emily M. Logan, Jessica M. Bolduc, Emily G. Kirchner, Monica Salani, Aram J. Krauson, Jana Narasimhan, Vijayalakshmi Gabbeta, Shivani Grover, Amal Dakka, Anna Mollin, Stephen P. Jung, Xin Zhao, Nanjing Zhang, Sophie Zhang, Michael Arnold, Matthew G. Woll, Nikolai A. Naryshkin, Marla Weetall, Susan A. Slaugenhaupt

Am J Hum Genet. 2023 Mar 2; 110(3): 531–547. Published online 2023 Feb 20. doi: 10.1016/j.ajhg.2023.01.019

PMCID:: PMC10027479

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Select item 98896089.

SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain

Rodrigo Gutierrez‐Quintana, Matthias Christen, Kiterie M. E. Faller, Julien Guevar, Vidhya Jagannathan, Tosso Leeb

J Vet Intern Med. 2023 Jan-Feb; 37(1): 230–235. Published online 2023 Jan 11. doi: 10.1111/jvim.16610

PMCID:: PMC9889608

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Select item 983969310.

Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia

Alexandra M. Cheney, Stephanann M. Costello, Nicholas V. Pinkham, Annie Waldum, Susan C. Broadaway, Maria Cotrina-Vidal, Marc Mergy, Brian Tripet, Douglas J. Kominsky, Heather M. Grifka-Walk, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Jesse T. Peach, Brian Bothner, Frances Lefcort, Valérie Copié, Seth T. Walk

Nat Commun. 2023; 14: 218. Published online 2023 Jan 13. doi: 10.1038/s41467-023-35787-8

PMCID:: PMC9839693

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Select item 980420311.

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

Chiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, Stefano Tozza, Isabella Moroni, Payam Mohassel, Matteo Cataldi, Chiara Campana, Simone Morando, Chiara Panicucci, Marina Pedemonte, Noemi Brolatti, Sabrina Siliquini, Monica Traverso, Serena Baratto, Doriana Debellis, Stefania Magri, Valeria Prada, Emilia Bellone, Vincenzo Salpietro, Sandra Donkervoort, Kenneth Gable, Sita D. Gupta, Teresa M. Dunn, Carsten G. Bönnemann, Franco Taroni, Claudio Bruno, Angelo Schenone, Paola Mandich, Lucilla Nobbio, Maria Nolano

Neuropathol Appl Neurobiol. 2022 Dec; 48(7): e12842. Published online 2022 Aug 10. doi: 10.1111/nan.12842

PMCID:: PMC9804203

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Select item 967190912.

Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models

Hsueh-Fu Wu, Wenxin Yu, Kenyi Saito-Diaz, Chia-Wei Huang, Joseph Carey, Frances Lefcort, Gerald W. Hart, Hong-Xiang Liu, Nadja Zeltner

Nat Commun. 2022; 13: 7032. Published online 2022 Nov 17. doi: 10.1038/s41467-022-34811-7

PMCID:: PMC9671909

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Select item 962262313.

Hereditary motor and sensory neuropathy with SOD1-mutant: A case report

Zhong Luo, Linhai Zhang, Juan Yang, Haiqing Zhang, Tao Liang

Medicine (Baltimore) 2022 Oct 28; 101(43): e31378. Published online 2022 Oct 28. doi: 10.1097/MD.0000000000031378

PMCID:: PMC9622623

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Select item 959795314.

Association of variants in the KIF1A gene with amyotrophic lateral sclerosis

Panlin Liao, Yanchun Yuan, Zhen Liu, Xiaorong Hou, Wanzhen Li, Jin Wen, Kexuan Zhang, Bin Jiao, Lu Shen, Hong Jiang, Jifeng Guo, Beisha Tang, Zhuohua Zhang, Zhonghua Hu, Junling Wang

Transl Neurodegener. 2022; 11: 46. Published online 2022 Oct 26. doi: 10.1186/s40035-022-00320-2

PMCID:: PMC9597953

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Select item 950807315.

WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway

Masahiro Shimizu, Hiroshi Shibuya

Sci Rep. 2022; 12: 15858. Published online 2022 Sep 23. doi: 10.1038/s41598-022-20271-y

PMCID:: PMC9508073

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Select item 947957416.

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

Museer A. Lone, Mari J. Aaltonen, Aliza Zidell, Helio F. Pedro, Jonas A. Morales Saute, Shalett Mathew, Payam Mohassel, Carsten G. Bönnemann, Eric A. Shoubridge, Thorsten Hornemann

J Clin Invest. 2022 Sep 15; 132(18): e161908. Published online 2022 Sep 15. doi: 10.1172/JCI161908

PMCID:: PMC9479574

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Select item 938838417.

Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA

Giulia Romano, Federico Riccardi, Erica Bussani, Simone Vodret, Danilo Licastro, Isabella Ragone, Giuseppe Ronzitti, Elisabetta Morini, Susan A. Slaugenhaupt, Franco Pagani

Am J Hum Genet. 2022 Aug 4; 109(8): 1534–1548. Published online 2022 Jul 28. doi: 10.1016/j.ajhg.2022.07.004

PMCID:: PMC9388384

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Select item 936538718.

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

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Select item 927321419.

Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia

Carrie E Leonard, Jolie Quiros, Frances Lefcort, Lisa A Taneyhill

eLife. 2022; 11: e71455. Published online 2022 Jun 17. doi: 10.7554/eLife.71455

PMCID:: PMC9273214

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Select item 919785220.

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

Elifcan Taşdelen, Daniel G. Calame, Gulsen Akay, Tadahiro Mitani, Jawid M. Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N. Jhangiani, Jennifer E. Posey, Richard A. Gibbs, Taylan Altıparmak, Nüket Yürür Kutlay, James R. Lupski, Davut Pehlivan

Am J Med Genet A. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Am J Med Genet A. 2022 Jul; 188(7): 2153–2161. Published online 2022 Mar 24. doi: 10.1002/ajmg.a.62727

PMCID:: PMC9197852

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