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Select item 82228521.

Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations

Hye Jin Kim, Soo Hyun Nam, Hye Mi Kwon, Si On Lim, Jae Hong Park, Hyun Su Kim, Sang Beom Kim, Kyung Suk Lee, Ji Eun Lee, Byung‐Ok Choi, Ki Wha Chung

Mol Genet Genomic Med. 2021 Jun; 9(6): e1678. Published online 2021 Apr 6. doi: 10.1002/mgg3.1678

PMCID:: PMC8222852

Abstract Article PDF–1.3M

Select item 108555782.

Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy

Franco Gemignani, Antonio Percesepe, Francesca Gualandi, Isabella Allegri, Maria Federica Bellanova, Andi Nuredini, Elena Saccani, Enrico Ambrosini, Valeria Barili, Vera Uliana

Int J Mol Sci. 2024 Feb; 25(3): 1654. Published online 2024 Jan 29. doi: 10.3390/ijms25031654

PMCID:: PMC10855578

Abstract Article PDF–1.1M

Select item 107112633.

Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

Juliane Bremer, Axel Meinhardt, Istvan Katona, Jan Senderek, Elke K. Kämmerer‐Gassler, Andreas Roos, Andreas Ferbert, J. Michael Schröder, Stefan Nikolin, Kay Nolte, Bernd Sellhaus, Klimentina Popzhelyazkova, Frank Tacke, Ulrike Schara‐Schmidt, Eva Neuen‐Jacob, Chantal Ceuterick de Groote, Peter de Jonghe, Vincent Timmerman, Jonathan Baets, Joachim Weis

Brain Pathol. 2024 Jan; 34(1): e13200. Published online 2023 Aug 15. doi: 10.1111/bpa.13200

PMCID:: PMC10711263

Abstract Article PDF–3.8M

Select item 103790634.

The Current State of Charcot–Marie–Tooth Disease Treatment

Yuji Okamoto, Hiroshi Takashima

Genes (Basel) 2023 Jul; 14(7): 1391. Published online 2023 Jul 1. doi: 10.3390/genes14071391

PMCID:: PMC10379063

Abstract Article PDF–305K

Select item 102984625.

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, Elena Dadali

Int J Mol Sci. 2023 Jun; 24(12): 9786. Published online 2023 Jun 6. doi: 10.3390/ijms24129786

PMCID:: PMC10298462

Abstract Article PDF–967K

Select item 101747136.

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 99771457.

Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study

Vera Fridman, Stefan Sillau, Jacob Bockhorst, Kaitlin Smith, Isabella Moroni, Emanuela Pagliano, Chiara Pisciotta, Guiseppe Piscosquito, Matilde Laurá, Francesco Muntoni, Chelsea Bacon, Shawna Feely, Tiffany Grider, Laurie Gutmann, Rosemary Shy, Janel Wilcox, David N. Herrmann, Jun Li, Sindhu Ramchandren, Charlotte J. Sumner, Thomas E. Lloyd, John Day, Carly E. Siskind, Sabrina W. Yum, Reza Sadjadi, Richard S. Finkel, Steven S. Scherer, Davide Pareyson, Mary M Reilly, Michael E. Shy, Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network (INC-RDCRN).

Ann Neurol. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: Ann Neurol. 2023 Mar; 93(3): 563–576. Published online 2022 Oct 28. doi: 10.1002/ana.26518

PMCID:: PMC9977145

Abstract Article PDF–1.2M

Select item 98063818.

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report

Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky

J Int Med Res. 2022 Dec; 50(12): 03000605221139718. Published online 2022 Dec 25. doi: 10.1177/03000605221139718

PMCID:: PMC9806381

Abstract Article PDF–536K

Select item 97077969.

A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication

Ghjuvan’Ghjacumu Shackleford, Leandro N. Marziali, Yo Sasaki, Anke Claessens, Cinzia Ferri, Nadav I. Weinstock, Alexander M. Rossor, Nicholas J. Silvestri, Emma R. Wilson, Edward Hurley, Grahame J. Kidd, Senthilvelan Manohar, Dalian Ding, Richard J. Salvi, M. Laura Feltri, Maurizio D’Antonio, Lawrence Wrabetz

PLoS Genet. 2022 Nov; 18(11): e1010477. Published online 2022 Nov 9. doi: 10.1371/journal.pgen.1010477

PMCID:: PMC9707796

Abstract Article PDF–6.5M

Select item 948092610.

Genotype–phenotype characteristics of Vietnamese patients diagnosed with Charcot–Marie–Tooth disease

Trung‐Hieu Nguyen‐Le, Minh Duc Do, Linh Hoang Gia Le, Quynh Nhu Nguyen Nhat, Nghia Trong Tien Hoang, Tuan Van Le, Thao Phuong Mai

Brain Behav. 2022 Sep; 12(9): e2744. Published online 2022 Aug 8. doi: 10.1002/brb3.2744

PMCID:: PMC9480926

Abstract Article PDF–524K

Select item 932232911.

Current profile of Charcot‐Marie‐Tooth disease in Africa: A systematic review

Abdoulaye Yalcouyé, Kevin Esoh, Landouré Guida, Ambroise Wonkam

J Peripher Nerv Syst. 2022 Jun; 27(2): 100–112. Published online 2022 Apr 5. doi: 10.1111/jns.12489

PMCID:: PMC9322329

Abstract Article PDF–3.3M

Select item 932103612.

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients

Na Young Jung, Hye Mi Kwon, Da Eun Nam, Nasrin Tamanna, Ah Jin Lee, Sang Beom Kim, Byung-Ok Choi, Ki Wha Chung

Genes (Basel) 2022 Jul; 13(7): 1219. Published online 2022 Jul 8. doi: 10.3390/genes13071219

PMCID:: PMC9321036

Abstract Article PDF–32M

Select item 912600613.

Raising cGMP restores proteasome function and myelination in mice with a proteotoxic neuropathy

Jordan J S VerPlank, Joseph Gawron, Nicholas J Silvestri, M Laura Feltri, Lawrence Wrabetz, Alfred L Goldberg

Brain. 2022 Jan; 145(1): 168–178. Published online 2021 Aug 11. doi: 10.1093/brain/awab249

PMCID:: PMC9126006

Abstract Article PDF–1.0M

Select item 900094614.

MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease

Xiaoyan Hao, Chong Li, Yunguo Lv, Tongtong Zhou, Hao Tian, Yaru Ma, Jiangwei Ding, Xinxiao Li, Yangyang Wang, Lei Wang, Ping Yang

Mol Genet Genomic Med. 2022 Apr; 10(4): e1890. Published online 2022 Feb 17. doi: 10.1002/mgg3.1890

PMCID:: PMC9000946

Abstract Article PDF–1.0M

Select item 884275715.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Abstract Article PDF–779K

Select item 880414516.

Mechanisms and Treatments in Demyelinating CMT

Vera Fridman, Mario A. Saporta

Neurotherapeutics. 2021 Oct; 18(4): 2236–2268. Published online 2021 Nov 8. doi: 10.1007/s13311-021-01145-z

PMCID:: PMC8804145

Abstract Article PDF–2.4M

Select item 859901117.

AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy

Alexia Kagiava, Christos Karaiskos, Jan Richter, Christina Tryfonos, Matthew J. Jennings, Amanda J. Heslegrave, Irene Sargiannidou, Marina Stavrou, Henrik Zetterberg, Mary M. Reilly, Christina Christodoulou, Rita Horvath, Kleopas A. Kleopa

Gene Ther. 2021; 28(10-11): 659–675. Published online 2021 Mar 10. doi: 10.1038/s41434-021-00250-0

PMCID:: PMC8599011

Abstract Article PDF–5.0M

Select item 829417218.

Natural history of Charcot-Marie-Tooth disease during childhood

Kayla MD Cornett, Manoj P Menezes, Rosemary R Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Timothy Estilow, Sabrina W Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M Reilly, Richard S Finkel, Kate J Eichinger, David N Herrmann, Paula Bray, Mark Halaki, Michael E Shy, Joshua Burns, CMTPedS Study Group

Ann Neurol. Author manuscript; available in PMC 2021 Jul 21.

Published in final edited form as: Ann Neurol. 2017 Sep; 82(3): 353–359. doi: 10.1002/ana.25009

PMCID:: PMC8294172

Abstract Article PDF–403K

Select item 819991019.

Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies

Marina Stavrou, Irene Sargiannidou, Elena Georgiou, Alexia Kagiava, Kleopas A. Kleopa

Int J Mol Sci. 2021 Jun; 22(11): 6048. Published online 2021 Jun 3. doi: 10.3390/ijms22116048

PMCID:: PMC8199910

Abstract Article PDF–1.1M

Select item 809837520.

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

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