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Select item 32723921.

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Michaela Auer-Grumbach, Andrea Olschewski, Lea Papić, Hannie Kremer, Meriel E McEntagart, Sabine Uhrig, Carina Fischer, Eleonore Fröhlich, Zoltán Bálint, Bi Tang, Heimo Strohmaier, Hanns Lochmüller, Beate Schlotter-Weigel, Jan Senderek, Angelika Krebs, Katherine J Dick, Richard Petty, Cheryl Longman, Neil E Anderson, George W Padberg, Helenius J Schelhaas, Conny M A van Ravenswaaij-Arts, Thomas R Pieber, Andrew H Crosby, Christian Guelly

Nat Genet. Author manuscript; available in PMC 2012 Feb 5.

Published in final edited form as: Nat Genet. 2010 Feb; 42(2): 160–164. Published online 2009 Dec 27. doi: 10.1038/ng.508

PMCID:: PMC3272392

Abstract Article PDF–1.5M

Select item 65280832.

Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Eden Faye, Peggy Modaff, Richard Pauli, Janet Legare

Mol Syndromol. 2019 May; 10(3): 154–160. Published online 2018 Dec 21. doi: 10.1159/000495778

PMCID:: PMC6528083

Abstract Article PDF–821K

Select item 30142333.

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

D.-H. Chen, Y. Sul, M. Weiss, A. Hillel, H. Lipe, J. Wolff, M. Matsushita, W. Raskind, T. Bird

Neurology. 2010 Nov 30; 75(22): 1968–1975. doi: 10.1212/WNL.0b013e3181ffe4bb

PMCID:: PMC3014233

Abstract Article PDF–1.0M

Select item 37861924.

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

Han-Xiang Deng, Christopher J Klein, Jianhua Yan, Yong Shi, Yanhong Wu, Faisal Fecto, Hau-Jie Yau, Yi Yang, Hong Zhai, Nailah Siddique, E Tessa Hedley-Whyte, Robert DeLong, Marco Martina, Peter J Dyck, Teepu Siddique

Nat Genet. Author manuscript; available in PMC 2013 Sep 29.

Published in final edited form as: Nat Genet. 2010 Feb; 42(2): 165–169. Published online 2009 Dec 27. doi: 10.1038/ng.509

PMCID:: PMC3786192

Abstract Article PDF–2.3M

Select item 28126275.

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Guida Landouré, Anselm A. Zdebik, Tara L. Martinez, Barrington G. Burnett, Horia C. Stanescu, Hitoshi Inada, Yijun Shi, Addis A. Taye, Lingling Kong, Clare H. Munns, Shelly S. Choo, Christopher B. Phelps, Reema Paudel, Henry Houlden, Christy L. Ludlow, Michael J. Caterina, Rachelle Gaudet, Robert Kleta, Kenneth H. Fischbeck, Charlotte J. Sumner

Nat Genet. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Nat Genet. 2010 Feb; 42(2): 170–174. Published online 2009 Dec 27. doi: 10.1038/ng.512

PMCID:: PMC2812627

Abstract Article PDF–3.0M

Select item 67263966.

Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2

Yvette C. Wong, Wesley Peng, Dimitri Krainc

Dev Cell. Author manuscript; available in PMC 2020 Aug 5.

Published in final edited form as: Dev Cell. 2019 Aug 5; 50(3): 339–354.e4. Published online 2019 Jun 20. doi: 10.1016/j.devcel.2019.05.033

PMCID:: PMC6726396

Abstract Article PDF–2.7M

Select item 30591457.

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

C.J. Klein, Y. Shi, F. Fecto, M. Donaghy, G. Nicholson, M.E. McEntagart, A.H. Crosby, Y. Wu, H. Lou, K.M. McEvoy, T. Siddique, H.-X. Deng, P.J. Dyck

Neurology. 2011 Mar 8; 76(10): 887–894. Published online 2011 Feb 2. doi: 10.1212/WNL.0b013e31820f2de3

PMCID:: PMC3059145

Abstract Article PDF–875K

Select item 46075988.

Charcot-Marie-Tooth disease: New insights from skin biopsy

Fiore Manganelli, Maria Nolano, Chiara Pisciotta, Vincenzo Provitera, Gian M. Fabrizi, Tiziana Cavallaro, Annamaria Stancanelli, Giuseppe Caporaso, Michael E. Shy, Lucio Santoro

Neurology. 2015 Oct 6; 85(14): 1202–1208. doi: 10.1212/WNL.0000000000001993

PMCID:: PMC4607598

Abstract Article PDF–469K

Select item 44547789.

Phenotypic variability of TRPV4 related neuropathies

Teresinha Evangelista, Boglarka Bansagi, Angela Pyle, Helen Griffin, Konstantinos Douroudis, Tuomo Polvikoski, Thalia Antoniadi, Kate Bushby, Volker Straub, Patrick F. Chinnery, Hanns Lochmüller, Rita Horvath

Neuromuscul Disord. 2015 Jun; 25(6): 516–521. doi: 10.1016/j.nmd.2015.03.007

PMCID:: PMC4454778

Abstract Article

Select item 631204110.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Melissa R Mandarakas, Manoj P Menezes, Kristy J Rose, Rosemary Shy, Kate Eichinger, Maria Foscan, Timothy Estilow, Rachel Kennedy, Karen Herbert, Paula Bray, Kathryn Refshauge, Monique M Ryan, Eppie M Yiu, Michelle Farrar, Hugo Sampaio, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Sabrina W Yum, David N Herrmann, Gyula Acsadi, Michael E Shy, Joshua Burns, Oranee Sanmaneechai

Brain. 2018 Dec; 141(12): 3319–3330. Published online 2018 Nov 22. doi: 10.1093/brain/awy280

Correction in:: Brain. 2019 Apr; 142(4): e14.

PMCID:: PMC6312041

Abstract Article PDF–857K

Select item 1031170711.

A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review

Haofeng Chen, Chong Sun, Yongsheng Zheng, Junxiong Yin, Mingshi Gao, Chongbo Zhao, Jie Lin

BMC Neurol. 2023; 23: 250. Published online 2023 Jun 30. doi: 10.1186/s12883-023-03260-0

PMCID:: PMC10311707

Abstract Article PDF–2.9M

Select item 481138112.

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

Jeremy M. Sullivan, Christina M. Zimanyi, William Aisenberg, Breanne Bears, Dong-Hui Chen, John W. Day, Thomas D. Bird, Carly E. Siskind, Rachelle Gaudet, Charlotte J. Sumner

Neurol Genet. 2015 Dec; 1(4): e29. Published online 2015 Oct 22. doi: 10.1212/NXG.0000000000000029

PMCID:: PMC4811381

Abstract Article PDF–959K

Select item 475989313.

Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy

Leen Abu Safieh, Humoud M. Al-Otaibi, Richard Alan Lewis, Igor Kozak

Middle East Afr J Ophthalmol. 2016 Jan-Mar; 23(1): 139–141. doi: 10.4103/0974-9233.171779

PMCID:: PMC4759893

Abstract Article

Select item 477608914.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evilä, Peter Hackman, Per-Harald Jonson, Sini Penttilä, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L. Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G. MacArthur, Carolyn M. Sue, Bjarne Udd

Neurology. 2016 Jan 26; 86(4): 391–398. doi: 10.1212/WNL.0000000000002324

Correction in:: Neurology. 2016 Mar 15; 86(11): 1077.

PMCID:: PMC4776089

Abstract Article PDF–910K

Select item 436985015.

Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families

LUÍS NEGRÃO, LUCIANO ALMENDRA, JOANA RIBEIRO, ANABELA MATOS, ARGEMIRO GERALDO, JORGE PINTO-BASTO

Acta Myol. 2014 Dec; 33(3): 144–148.

PMCID:: PMC4369850

Abstract Article PDF–252K

Select item 478429216.

A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2

Yuan Yang, Ling Li

Ital J Pediatr. 2016; 42: 28. Published online 2016 Mar 8. doi: 10.1186/s13052-016-0237-8

PMCID:: PMC4784292

Abstract Article PDF–913K

Select item 452141317.

Caspase-8 and c-FLIP_L Associate in Lipid Rafts with NF-κB Adaptors during T Cell Activation

Ravi S. Misra, Jennifer Q. Russell, Andreas Koenig, Jennifer A. Hinshaw-Makepeace, Renren Wen, Demin Wang, Hairong Huo, Dan R. Littman, Uta Ferch, Jurgen Ruland, Margot Thome, Ralph C. Budd

J Biol Chem. Author manuscript; available in PMC 2015 Jul 31.

Published in final edited form as: J Biol Chem. 2007 Jul 6; 282(27): 19365–19374. Published online 2007 Apr 26. doi: 10.1074/jbc.M610610200

PMCID:: PMC4521413

Abstract Article PDF–1009K

Select item 435684618.

PMCA4 (ATP2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion

Philip Wing-Lok Ho, Shirley Yin-Yu Pang, Miaoxin Li, Zero Ho-Man Tse, Michelle Hiu-Wai Kung, Pak-Chung Sham, Shu-Leong Ho

Brain Behav. 2015 Apr; 5(4): e00321. Published online 2015 Feb 16. doi: 10.1002/brb3.321

PMCID:: PMC4356846

Abstract Article PDF–523K

Select item 422564719.

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, Boglarka Bansagi, Magdalena Zimon, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, Vedrana Milic Rasic, Jonathan Baets, Marina Bartsakoulia, Rafal Ploski, Pawel Teterycz, Milos Nikolic, Ros Quinlivan, Matilde Laura, Mary G. Sweeney, Franco Taroni, Michael P. Lunn, Isabella Moroni, Michael Gonzalez, Michael G. Hanna, Conceicao Bettencourt, Elodie Chabrol, Andre Franke, Katja von Au, Markus Schilhabel, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Sebastian Brandner, Siew Choo Lim, Haiwei Song, Byung-Ok Choi, Rita Horvath, Ki-Wha Chung, Stephan Zuchner, Davide Pareyson, Matthew Harms, Mary M. Reilly, Henry Houlden

Am J Hum Genet. 2014 Nov 6; 95(5): 590–601. doi: 10.1016/j.ajhg.2014.10.002

PMCID:: PMC4225647

Abstract Article PDF–2.9M

Select item 462824420.

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

Nyamkhishig Sambuughin, Lev G. Goldfarb, Tatiana M. Sivtseva, Tatiana K. Davydova, Vsevolod A. Vladimirtsev, Vladimir L. Osakovskiy, Al’bina P. Danilova, Raisa S. Nikitina, Anastasia N. Ylakhova, Margarita P. Diachkovskaya, Anna C. Sundborger, Neil M. Renwick, Fyodor A. Platonov, Jenny E. Hinshaw, Camilo Toro

BMC Neurol. 2015; 15: 223. Published online 2015 Oct 30. doi: 10.1186/s12883-015-0481-3

PMCID:: PMC4628244

Abstract Article PDF–2.6M

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