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Select item 47354561.

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

Young Bin Hong, Jaesoon Joo, Young Se Hyun, Geon Kwak, Yu-Ri Choi, Ha Kyung Yeo, Dong Hwan Jwa, Eun Ja Kim, Won Min Mo, Soo Hyun Nam, Sung Min Kim, Jeong Hyun Yoo, Heasoo Koo, Hwan Tae Park, Ki Wha Chung, Byung-Ok Choi

PLoS Genet. 2016 Feb; 12(2): e1005829. Published online 2016 Feb 1. doi: 10.1371/journal.pgen.1005829

PMCID:: PMC4735456

Abstract Article PDF–1.9M

Select item 82087902.

SIRT2‐knockdown rescues GARS‐induced Charcot‐Marie‐Tooth neuropathy

Yingying Zhao, Liangguo Xie, Chao Shen, Qian Qi, Yicai Qin, Juan Xing, Dejian Zhou, Yun Qi, Zhiqiang Yan, Xinhua Lin, Rongyang Dai, Jinzhong Lin, Wei Yu

Aging Cell. 2021 Jun; 20(6): e13391. Published online 2021 May 30. doi: 10.1111/acel.13391

PMCID:: PMC8208790

Abstract Article PDF–1.1M

Select item 80983753.

Charcot‐Marie‐Tooth Neuropathy Type 2 and P0 Point Mutations: Two Novel Amino Acid Substitutions (Asp61Gly; Tyr119Cys) and a Possible “Hotspot” on Thr124Met

Jan Senderek, Benita Hermanns, Ute Lehmann, Carsten Bergmann, Georg Marx, Christian Kabus, Vincent Timmerman, Gisela Stoltenburg‐Didinger, J. Michael Schröder

Brain Pathol. 2000 Apr; 10(2): 235–248. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2000.tb00257.x

PMCID:: PMC8098375

Summary PDF–266K

Select item 80474454.

A weakened interface in the P182L variant of HSP27 associated with severe Charcot‐Marie‐Tooth neuropathy causes aberrant binding to interacting proteins

T Reid Alderson, Elias Adriaenssens, Bob Asselbergh, Iva Pritišanac, Jonas Van Lent, Heidi Y Gastall, Marielle A Wälti, John M Louis, Vincent Timmerman, Andrew J Baldwin, Justin LP Benesch

EMBO J. 2021 Apr 15; 40(8): e103811. Published online 2021 Mar 1. doi: 10.15252/embj.2019103811

PMCID:: PMC8047445

Abstract Article PDF–3.1M

Select item 37068495.

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

James R Lupski, Claudia Gonzaga-Jauregui, Yaping Yang, Matthew N Bainbridge, Shalini Jhangiani, Christian J Buhay, Christie L Kovar, Min Wang, Alicia C Hawes, Jeffrey G Reid, Christine Eng, Donna M Muzny, Richard A Gibbs

Genome Med. 2013; 5(6): 57. Published online 2013 Jun 27. doi: 10.1186/gm461

PMCID:: PMC3706849

Abstract Article PDF–3.5M

Select item 37183616.

Genetic Deletion of Cadm4 Results in Myelin Abnormalities Resembling Charcot-Marie-Tooth Neuropathy

Neev Golan, Elena Kartvelishvily, Ivo Spiegel, Daniela Salomon, Helena Sabanay, Katya Rechav, Anya Vainshtein, Shahar Frechter, Galia Maik-Rachline, Yael Eshed-Eisenbach, Takashi Momoi, Elior Peles

J Neurosci. 2013 Jul 3; 33(27): 10950–10961. doi: 10.1523/JNEUROSCI.0571-13.2013

PMCID:: PMC3718361

Abstract Article PDF–5.9M

Select item 38484287.

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes

Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter

BMC Med Genet. 2013; 14: 92. Published online 2013 Sep 16. doi: 10.1186/1471-2350-14-92

PMCID:: PMC3848428

Abstract Article PDF–1.1M

Select item 39539168.

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

Emil Ylikallio, Mridul Johari, Svetlana Konovalova, Jukka S Moilanen, Sari Kiuru-Enari, Mari Auranen, Leila Pajunen, Henna Tyynismaa

Eur J Hum Genet. 2014 Apr; 22(4): 522–527. Published online 2013 Aug 21. doi: 10.1038/ejhg.2013.190

PMCID:: PMC3953916

Abstract Article PDF–1001K

Select item 40368029.

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

James R. Lupski, Jeffrey G. Reid, Claudia Gonzaga-Jauregui, David Rio Deiros, David C.Y. Chen, Lynne Nazareth, Matthew Bainbridge, Huyen Dinh, Chyn Jing, David A. Wheeler, Amy L. McGuire, Feng Zhang, Pawel Stankiewicz, John J. Halperin, Chengyong Yang, Curtis Gehman, Danwei Guo, Rola K. Irikat, Warren Tom, Nick J. Fantin, Donna M. Muzny, Richard A. Gibbs

N Engl J Med. Author manuscript; available in PMC 2014 May 28.

Published in final edited form as: N Engl J Med. 2010 Apr 1; 362(13): 1181–1191. Published online 2010 Mar 10. doi: 10.1056/NEJMoa0908094

PMCID:: PMC4036802

Abstract Article PDF–453K

Select item 697305810.

Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study

L. Mori, A. Signori, V. Prada, D. Pareyson, G. Piscosquito, L. Padua, C. Pazzaglia, G. M. Fabrizi, A. Picelli, A. Schenone, TreSPE study group

Eur J Neurol. 2020 Feb; 27(2): 280–287. Published online 2019 Sep 25. doi: 10.1111/ene.14074

PMCID:: PMC6973058

Abstract Article PDF–360K

Select item 692043311.

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

Bianca R. Grosz, Natasha B. Golovchenko, Melina Ellis, Kishore Kumar, Garth A. Nicholson, Anthony Antonellis, Marina L. Kennerson

Sci Rep. 2019; 9: 19336. Published online 2019 Dec 18. doi: 10.1038/s41598-019-55875-4

PMCID:: PMC6920433

Abstract Article PDF–1.5M

Select item 430349812.

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

Reza Sadjadi, Mary M. Reilly, Michael E. Shy, Davide Pareyson, Matilde Laura, Sinead Murphy, Shawna M.E. Feely, Tiffany Grider, Chelsea Bacon, Giuseppe Piscosquito, Daniela Calabrese, Ted M. Burns

J Peripher Nerv Syst. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: J Peripher Nerv Syst. 2014 Sep; 19(3): 192–196. doi: 10.1111/jns.12084

PMCID:: PMC4303498

Abstract Article PDF–322K

Select item 439322913.

Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy

Manuela Barneo-Muñoz, Paula Juárez, Azahara Civera-Tregón, Laura Yndriago, David Pla-Martin, Jennifer Zenker, Carmen Cuevas-Martín, Anna Estela, María Sánchez-Aragó, Jerónimo Forteza-Vila, José M. Cuezva, Roman Chrast, Francesc Palau

PLoS Genet. 2015 Apr; 11(4): e1005115. Published online 2015 Apr 10. doi: 10.1371/journal.pgen.1005115

PMCID:: PMC4393229

Abstract Article PDF–14M

Select item 48645514.

Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.

G Nicholson, A Corbett

J Neurol Neurosurg Psychiatry. 1996 Jul; 61(1): 43–46. doi: 10.1136/jnnp.61.1.43

PMCID:: PMC486455

Summary Page Browse PDF–687K

Select item 670351215.

Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy

Leonardo Almeida-Souza, Bob Asselbergh, Constantin d'Ydewalle, Kristof Moonens, Sofie Goethals, Vicky de Winter, Abdelkrim Azmi, Joy Irobi, Jean-Pierre Timmermans, Kris Gevaert, Han Remaut, Ludo Van Den Bosch, Vincent Timmerman, Sophie Janssens

J Neurosci. 2011 Oct 26; 31(43): 15320–15328. doi: 10.1523/JNEUROSCI.3266-11.2011

PMCID:: PMC6703512

Abstract Article PDF–2.8M

Select item 669296016.

Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Paulius Palaima, Teodora Chamova, Sebastian Jander, Vanyo Mitev, Christine Van Broeckhoven, Ivailo Tournev, Kristien Peeters, Albena Jordanova

Orphanet J Rare Dis. 2019; 14: 197. Published online 2019 Aug 14. doi: 10.1186/s13023-019-1162-x

PMCID:: PMC6692960

Abstract Article PDF–1.1M

Select item 663159817.

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

Humberto Skott, Cristina Muntean-Firanescu, Kristin Samuelsson, Luca Verrecchia, Per Svenningsson, Helena Malmgren, Carmen Cananau, Alberto J. Espay, Rayomand Press, Göran Solders, Martin Paucar

Cerebellum Ataxias. 2019; 6: 9. Published online 2019 Jul 15. doi: 10.1186/s40673-019-0103-8

PMCID:: PMC6631598

Abstract Article PDF–1.3M

Select item 477794618.

Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1

Ning Wu, Sarita Said, Shyamsunder Sabat, Matthew Wicklund, Mark C. Stahl

Case Rep Neurol. 2015 Sep-Dec; 7(3): 247–252. Published online 2015 Dec 24. doi: 10.1159/000442410

PMCID:: PMC4777946

Abstract Article PDF–681K

Select item 495471219.

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

Megan H. Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P. Drew, Manoj P. Menezes, Monique M. Ryan, Michelle A. Farrar, David Mowat, Gopinath M. Subramanian, Helen K. Young, Stephan Zuchner, Stephen W. Reddel, Garth A. Nicholson, Marina L. Kennerson

PLoS Genet. 2016 Jul; 12(7): e1006177. Published online 2016 Jul 20. doi: 10.1371/journal.pgen.1006177

PMCID:: PMC4954712

Abstract Article PDF–1.0M

Select item 524095820.

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

Wenjia Wang, Mickaël Guedj, Viviane Bertrand, Julie Foucquier, Elisabeth Jouve, Daniel Commenges, Cécile Proust-Lima, Niall P. Murphy, Olivier Blin, Laurent Magy, Daniel Cohen, Shahram Attarian

PLoS One. 2017; 12(1): e0169878. Published online 2017 Jan 17. doi: 10.1371/journal.pone.0169878

PMCID:: PMC5240958

Abstract Article PDF–2.4M

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