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Select item 73987181.

Charcot-Marie-Tooth Disease Type 2E/1F Mutant Neurofilament Proteins Assemble into Neurofilaments

Elizabeth J. Stone, Atsuko Uchida, Anthony Brown

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2020 Aug 3.

Published in final edited form as: Cytoskeleton (Hoboken). 2019 Jul; 76(7-8): 423–439. Published online 2019 Nov 6. doi: 10.1002/cm.21566

PMCID:: PMC7398718

Abstract Article PDF–3.7M

Select item 45162962.

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E

Chiara Pisciotta, Yunhong Bai, Kathryn M. Brennan, Xingyao Wu, Tiffany Grider, Shawna Feely, Suola Wang, Steven Moore, Carly Siskind, Michael Gonzalez, Stephan Zuchner, Michael E. Shy

Neurology. 2015 Jul 21; 85(3): 228–234. doi: 10.1212/WNL.0000000000001773

PMCID:: PMC4516296

Abstract Article PDF–655K

Select item 42625893.

Axonal Charcot-Marie-Tooth Disease Patient-Derived Motor Neurons Demonstrate Disease-Specific Phenotypes including Abnormal Electrophysiological Properties

Mario A. Saporta, Vu Dang, Dmitri Volfson, Bende Zou, Xinmin (Simon) Xie, Adijat Adebola, Ronald K. Liem, Michael Shy, John T. Dimos

Exp Neurol. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Exp Neurol. 2015 Jan; 263: 190–199. Published online 2014 Oct 30. doi: 10.1016/j.expneurol.2014.10.005

PMCID:: PMC4262589

Abstract Article PDF–1.8M

Select item 101747134.

A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L

Elizabeth J. Stone, Stephen J. Kolb, Anthony Brown

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2023 May 11.

Published in final edited form as: Cytoskeleton (Hoboken). 2021 Mar; 78(3): 97–110. Published online 2021 Jun 3. doi: 10.1002/cm.21676

PMCID:: PMC10174713

Abstract Article PDF–2.1M

Select item 88308125.

Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease

Hye Jin Kim, Sang Beom Kim, Hyun Su Kim, Hye Mi Kwon, Jae Hong Park, Ah Jin Lee, Si On Lim, Soo Hyun Nam, Young Bin Hong, Ki Wha Chung, Byung‐Ok Choi

Mol Genet Genomic Med. 2022 Feb; 10(2): e1870. Published online 2022 Jan 19. doi: 10.1002/mgg3.1870

PMCID:: PMC8830812

Abstract Article PDF–1.3M

Select item 110916436.

Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes

Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara-Schmidt, Corinna Preusse, Andreas Laner, Angela Abicht, Tobias Ruck, Joachim Weis, Catherine Choueiri, Hanns Lochmüller, Heike Kölbel, Andreas Roos

J Neuromuscul Dis. 2024; 11(3): 625–645. Prepublished online 2024 Apr 3. Published online 2024 Apr 30. doi: 10.3233/JND-230230

PMCID:: PMC11091643

Abstract Article PDF–2.5M

Select item 69523157.

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

Hongge Wang, Matthew Davison, Kathryn Wang, Tai‐He Xia, Martin Kramer, Katherine Call, Jun Luo, Xingyao Wu, Riccardo Zuccarino, Chelsea Bacon, Yunhong Bai, John J. Moran, Laurie Gutmann, Shawna M. E. Feely, Tiffany Grider, Alexander M. Rossor, Mary M. Reilly, John Svaren, Michael E. Shy

Ann Clin Transl Neurol. 2020 Jan; 7(1): 69–82. Published online 2019 Dec 12. doi: 10.1002/acn3.50965

PMCID:: PMC6952315

Abstract Article PDF–1.1M

Select item 84155638.

Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E

Carissa M. Feliciano, Kenneth Wu, Hannah L. Watry, Chiara B. E. Marley, Gokul N. Ramadoss, Hana Y. Ghanim, Angela Z. Liu, Lyandysha V. Zholudeva, Todd C. McDevitt, Mario A. Saporta, Bruce R. Conklin, Luke M. Judge

Front Cell Dev Biol. 2021; 9: 723023. Published online 2021 Aug 16. doi: 10.3389/fcell.2021.723023

PMCID:: PMC8415563

Abstract Article PDF–2.4M

Select item 107581259.

Neurofilaments in health and Charcot-Marie-Tooth disease

Farah Kotaich, Damien Caillol, Pascale Bomont

Front Cell Dev Biol. 2023; 11: 1275155. Published online 2023 Dec 18. doi: 10.3389/fcell.2023.1275155

PMCID:: PMC10758125

Abstract Article PDF–5.6M

Select item 324278310.

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Antony Antonellis, Yi-Chung Lee

PLoS One. 2011; 6(12): e29393. Published online 2011 Dec 19. doi: 10.1371/journal.pone.0029393

Correction in:: PLoS One. 2012; 7(1): 10.1371/annotation/237439db-35ae-4884-9ee7-2ae19872a581.

PMCID:: PMC3242783

Abstract Article PDF–557K

Select item 317053311.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Jonathan Baets, Tine Deconinck, Els De Vriendt, Magdalena Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yesim Parman, Berten Ceulemans, Patrick Van Bogaert, Adolf Pou-Serradell, Günther Bernert, Argirios Dinopoulos, Michaela Auer-Grumbach, Satu-Leena Sallinen, Gian Maria Fabrizi, Fernand Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloglu, Ricardo E. Madrid, Dagmara Kabzińska, Andrzej Kochanski, Haluk Topaloglu, Geoffrey Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe

Brain. 2011 Sep; 134(9): 2664–2676. Published online 2011 Aug 11. doi: 10.1093/brain/awr184

PMCID:: PMC3170533

Abstract Article PDF–353K

Select item 331947312.

Expressing hNF-L^E397K results in abnormal gaiting in a transgenic model of CMT2E

Jeffrey M. Dale, Eric Villalon, Stephen G. Shannon, Devin M. Barry, Rachel M. Markey, Virginia B. Garcia, Michael L. Garcia

Genes Brain Behav. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Genes Brain Behav. 2012 Apr; 11(3): 360–365. Published online 2012 Feb 23. doi: 10.1111/j.1601-183X.2012.00771.x

PMCID:: PMC3319473

Abstract Article PDF–861K

Select item 384906813.

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein I Mellgren, Øivind Nilssen

BMC Med Genet. 2013; 14: 94. Published online 2013 Sep 21. doi: 10.1186/1471-2350-14-94

PMCID:: PMC3849068

Abstract Article PDF–1.1M

Select item 390026314.

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations

Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein Ivar Mellgren, Øivind Nilssen

BMC Med Genet. 2014; 15: 12. Published online 2014 Jan 21. doi: 10.1186/1471-2350-15-12

PMCID:: PMC3900263

Abstract Article PDF–625K

Select item 422791715.

Expanding the Phenotype Associated With the NEFL Mutation Neuromuscular Disease in a Family with Overlapping Myopathic and Neurogenic Findings

Pankaj B. Agrawal, Mugdha Joshi, Nicholas S. Marinakis, Klaus Schmitz-Abe, Pedro D. S. C. Ciarlini, Jane C. Sargent, Kyriacos Markianos, Umberto De Girolami, David A. Chad, Alan H. Beggs

JAMA Neurol. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: JAMA Neurol. 2014 Nov 1; 71(11): 1413–1420. doi: 10.1001/jamaneurol.2014.1432

PMCID:: PMC4227917

Abstract Article PDF–853K

Select item 1078932516.

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand

Pimchanok Kulsirichawaroj, Yanin Suksangkharn, Da Eun Nam, Theeraphong Pho-iam, Chanin Limwongse, Ki Wha Chung, Oranee Sanmaneechai, Stephan L. Zuchner, Byung-Ok Choi

J Neuromuscul Dis. 2024; 11(1): 191–199. Prepublished online 2023 Nov 2. Published online 2024 Jan 2. doi: 10.3233/JND-230174

PMCID:: PMC10789325

Abstract Article PDF–301K

Select item 478224217.

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Friederike Werheid, Hamid Azzedine, Eva Zwerenz, Ahmet Bozkurt, Marcus J. Moeller, Lilian Lin, Michael Mull, Martin Häusler, Jörg B. Schulz, Joachim Weis, Kristl G. Claeys

Brain Behav. 2016 Apr; 6(4): e00451. Published online 2016 Mar 4. doi: 10.1002/brb3.451

PMCID:: PMC4782242

Abstract Article PDF–847K

Select item 483343518.

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Adriana P. Rebelo, Alexander J. Abrams, Ellen Cottenie, Alejandro Horga, Michael Gonzalez, Dana M. Bis, Avencia Sanchez-Mejias, Milena Pinto, Elena Buglo, Kasey Markel, Jeffrey Prince, Matilde Laura, Henry Houlden, Julian Blake, Cathy Woodward, Mary G. Sweeney, Janice L. Holton, Michael Hanna, Julia E. Dallman, Michaela Auer-Grumbach, Mary M. Reilly, Stephan Zuchner

Am J Hum Genet. 2016 Apr 7; 98(4): 597–614. Published online 2016 Mar 31. doi: 10.1016/j.ajhg.2016.02.022