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Select item 45393601.

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

Boglarka Bansagi, Thalia Antoniadi, Sarah Burton-Jones, Sinead M. Murphy, John McHugh, Michael Alexander, Richard Wells, Joanna Davies, David Hilton-Jones, Hanns Lochmüller, Patrick Chinnery, Rita Horvath

J Neurol. 2015; 262(8): 1899–1908. Published online 2015 Jun 2. doi: 10.1007/s00415-015-7778-4

PMCID:: PMC4539360

Abstract Article PDF–1.0M

Select item 11804042.

Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35

Albena Jordanova, Florian P. Thomas, Velina Guergueltcheva, Ivailo Tournev, Francisco A. A. Gondim, Borjana Ishpekova, Els De Vriendt, An Jacobs, Ivan Litvinenko, Neviana Ivanova, Borjan Buzhov, Peter De Jonghe, Ivo Kremensky, Vincent Timmerman

Am J Hum Genet. 2003 Dec; 73(6): 1423–1430. Published online 2003 Nov 6. doi: 10.1086/379792

PMCID:: PMC1180404

Abstract Article PDF–171K

Select item 12260743.

Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2

M. L. Kennerson, D. Zhu, R. J. M. Gardner, E. Storey, J. Merory, S. P. Robertson, G. A. Nicholson

Am J Hum Genet. 2001 Oct; 69(4): 883–888. Published online 2001 Aug 28. doi: 10.1086/323743

PMCID:: PMC1226074

Abstract Article PDF–136K

Select item 12260754.

Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1

Kristien Verhoeven, Marcello Villanova, Alessandro Rossi, Alessandro Malandrini, Peter De Jonghe, Vincent Timmerman

Am J Hum Genet. 2001 Oct; 69(4): 889–894. Published online 2001 Aug 30. doi: 10.1086/323742

PMCID:: PMC1226075

Abstract Article PDF–116K

Select item 17395475.

Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation

J Sowden, E Logigian, K Malik, D Herrmann

J Neurol Neurosurg Psychiatry. 2005 Mar; 76(3): 442–444. doi: 10.1136/jnnp.2004.043968

PMCID:: PMC1739547

Summary PDF–55K

Select item 25700226.

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

Laia Pedrola, Antonio Espert, Teresa Valdés-Sánchez, Maribel Sánchez-Piris, Erich E Sirkowski, Steven S Scherer, Isabel Fariñas, Francesc Palau

J Cell Mol Med. 2008 Apr; 12(2): 679–689. Published online 2007 Nov 16. doi: 10.1111/j.1582-4934.2007.00158.x

PMCID:: PMC2570022

Abstract Article PDF–959K

Select item 27249167.

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

Kristl G. Claeys, Stephan Züchner, Marina Kennerson, José Berciano, Antonio Garcia, Kristien Verhoeven, Elsdon Storey, John R. Merory, Henriette M. E. Bienfait, Martin Lammens, Eva Nelis, Jonathan Baets, Els De Vriendt, Zwi N. Berneman, Ilse De Veuster, Jefferey M. Vance, Garth Nicholson, Vincent Timmerman, Peter De Jonghe

Brain. 2009 Jul; 132(7): 1741–1752. Published online 2009 Jun 5. doi: 10.1093/brain/awp115

PMCID:: PMC2724916

Abstract Article PDF–626K

Select item 29643558.

“Laminopathies:” a wide spectrum of human diseases

Howard J. Worman, Gisèle Bonne

Exp Cell Res. Author manuscript; available in PMC 2010 Oct 26.

Published in final edited form as: Exp Cell Res. 2007 Jun 10; 313(10): 2121–2133. Published online 2007 Mar 30. doi: 10.1016/j.yexcr.2007.03.028

PMCID:: PMC2964355

Abstract Article PDF–738K

Select item 33997789.

Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain

Juan D. Ramirez, Phillip R.J. Barnes, Kerry R. Mills, David L.H. Bennett

Pain. 2012 Aug; 153(8): 1763–1768. doi: 10.1016/j.pain.2012.05.015

PMCID:: PMC3399778

Abstract Article PDF–565K

Select item 354825310.

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton, Kyproula Christodoulou

Eur J Hum Genet. 2013 Feb; 21(2): 190–194. Published online 2012 Jul 11. doi: 10.1038/ejhg.2012.146

PMCID:: PMC3548253

Abstract Article PDF–949K

Select item 359184411.

Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease

Bing-Wen Soong, Yen-Hua Huang, Pei-Chien Tsai, Chien-Chang Huang, Hung-Chuan Pan, Yi-Chun Lu, Hsin-Ju Chien, Tze-Tze Liu, Ming-Hong Chang, Kon-Ping Lin, Pang-Hsien Tu, Lung-Sen Kao, Yi-Chung Lee

Am J Hum Genet. 2013 Mar 7; 92(3): 422–430. doi: 10.1016/j.ajhg.2013.01.014

PMCID:: PMC3591844

Abstract Article PDF–1.0M

Select item 1107471812.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Joohyun Park, Bianca R. Flores, Katalin Scherer, Hanna Kuepper, Mari Rossi, Katrin Rupprich, Maren Rautenberg, Natalie Deininger, Annette Weichselbaum, Alexander Grimm, Marc Sturm, Ute Grasshoff, Eric Delpire, Tobias B. Haack

J Med Genet. Author manuscript; available in PMC 2024 May 7.

Published in final edited form as: J Med Genet. 2020 Apr; 57(4): 283–288. Published online 2019 Aug 22. doi: 10.1136/jmedgenet-2019-106273

PMCID:: PMC11074718

Abstract Article PDF–774K

Select item 556256013.

Intermediate Charcot-Marie-Tooth disease

Lei Liu, Ruxu Zhang

Neurosci Bull. 2014 Dec; 30(6): 999–1009. Published online 2014 Oct 17. doi: 10.1007/s12264-014-1475-7

PMCID:: PMC5562560

Abstract Article PDF–394K

Select item 627728114.

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease

Mo Zhao, Nika Maani, James J. Dowling

Neurotherapeutics. 2018 Oct; 15(4): 966–975. Published online 2018 Nov 13. doi: 10.1007/s13311-018-00686-0

PMCID:: PMC6277281

Abstract Article PDF–1.0M

Select item 672639615.

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 678254516.

Transport of Trembler-J Mutant Peripheral Myelin Protein 22 Is Blocked in the Intermediate Compartment and Affects the Transport of the Wild-Type Protein by Direct Interaction

Andreas R. Tobler, Lucia Notterpek, Roland Naef, Verdon Taylor, Ueli Suter, Eric M. Shooter

J Neurosci. 1999 Mar 15; 19(6): 2027–2036. doi: 10.1523/JNEUROSCI.19-06-02027.1999

PMCID:: PMC6782545

Abstract Article PDF–1.5M

Select item 685941117.

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

RITA MACHADO, JORGE PINTO-BASTO, LUÍS NEGRÃO

Acta Myol. 2019 Sep; 38(3): 180–183. Published online 2019 Sep 1.

PMCID:: PMC6859411

Abstract Article PDF–242K

Select item 725484718.

Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy

Jorge A Pereira, Joanne Gerber, Monica Ghidinelli, Daniel Gerber, Luigi Tortola, Andrea Ommer, Sven Bachofner, Francesco Santarella, Elisa Tinelli, Shuo Lin, Markus A Rüegg, Manfred Kopf, Klaus V Toyka, Ueli Suter

Hum Mol Genet. 2020 May 28; 29(8): 1253–1273. Published online 2020 Mar 4. doi: 10.1093/hmg/ddaa034