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Select item 105455041.

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson, Chiara Pisciotta, Shawna M E Feely, Thomas E Lloyd, Rita Horvath, Reza Sadjadi, David N Herrmann, Jun Li, David Walk, Sabrina W Yum, Richard A Lewis, John Day, Joshua Burns, Richard S Finkel, Mario A Saporta, Sindhu Ramchandren, Michael D Weiss, Gyula Acsadi, Vera Fridman, Francesco Muntoni, Roy Poh, James M Polke, Stephan Zuchner, Michael E Shy, Steven S Scherer, Mary M Reilly, for the Inherited Neuropathies Consortium—Rare Disease Clinical Research Network

Brain. 2023 Oct; 146(10): 4336–4349. Published online 2023 Jun 7. doi: 10.1093/brain/awad187

PMCID:: PMC10545504

Article PDF–564K

Select item 104681252.

Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels

Chao Qi, Pia Lavriha, Erva Bayraktar, Anand Vaithia, Dina Schuster, Micaela Pannella, Valentina Sala, Paola Picotti, Mario Bortolozzi, Volodymyr M. Korkhov

Sci Adv. 2023 Aug; 9(35): eadh4890. Published online 2023 Aug 30. doi: 10.1126/sciadv.adh4890

PMCID:: PMC10468125

Article PDF–1.2M

Select item 104609513.

Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy

Alexia Kagiava, Christos Karaiskos, George Lapathitis, Amanda Heslegrave, Irene Sargiannidou, Henrik Zetterberg, Assumpció Bosch, Kleopas A. Kleopa

Mol Ther Methods Clin Dev. 2023 Sep 14; 30: 377–393. Published online 2023 Aug 2. doi: 10.1016/j.omtm.2023.07.011

PMCID:: PMC10460951

Article PDF–7.1M

Select item 102941624.

Symmetric DWI hyperintensities in CMT1X patients after SARS-CoV-2 vaccination should not be classified as stroke-like lesions

Josef Finsterer

World J Clin Cases. 2023 Jun 6; 11(16): 3929–3931. Published online 2023 Jun 6. doi: 10.12998/wjcc.v11.i16.3929

PMCID:: PMC10294162

Article PDF–355K

Select item 82416555.

Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1

Bianca R. Grosz, John Svaren, Gonzalo Perez-Siles, Garth A. Nicholson, Marina L. Kennerson

Neurogenetics. 2021; 22(3): 149–160. Published online 2021 Jun 5. doi: 10.1007/s10048-021-00650-9

PMCID:: PMC8241655

Article PDF–2.7M

Select item 78240186.

Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis

Federica Boso, Federica Taioli, Ilaria Cabrini, Tiziana Cavallaro, Gian Maria Fabrizi

Brain Sci. 2021 Jan; 11(1): 24. Published online 2020 Dec 27. doi: 10.3390/brainsci11010024

PMCID:: PMC7824018

Article PDF–1.7M

Select item 78182787.

Systematic review of CMTX1 patients with episodic neurological dysfunction

Dandan Tian, Yating Zhao, Ruixia Zhu, Qu Li, Xu Liu

Ann Clin Transl Neurol. 2021 Jan; 8(1): 213–223. Published online 2020 Dec 12. doi: 10.1002/acn3.51271

PMCID:: PMC7818278

Article PDF–274K

Select item 64916368.

A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms

Si Luo, Hui Jin, Jiajun Chen, Lei Zhang

Front Neurol. 2019; 10: 413. Published online 2019 Apr 24. doi: 10.3389/fneur.2019.00413

PMCID:: PMC6491636

Article PDF–1.5M

Select item 55779659.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

Francis B. Panosyan, Matilde Laura, Alexander M. Rossor, Chiara Pisciotta, Giuseppe Piscosquito, Joshua Burns, Jun Li, Sabrina W. Yum, Richard A. Lewis, John Day, Rita Horvath, David N. Herrmann, Michael E. Shy, Davide Pareyson, Mary M. Reilly, Steven S. Scherer, For the Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)

Neurology. 2017 Aug 29; 89(9): 927–935. doi: 10.1212/WNL.0000000000004296

PMCID:: PMC5577965

Article PDF–915K

Select item 522321910.

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

Charles K. Abrams, Mikhail Goman, Sarah Wong, Steven S. Scherer, Kleopas A. Kleopa, Alejandro Peinado, Mona M. Freidin

Sci Rep. 2017; 7: 40166. Published online 2017 Jan 10. doi: 10.1038/srep40166

PMCID:: PMC5223219

Article PDF–4.5M

Select item 477794611.

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

Article PDF–681K

Select item 446070412.

CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors

Mones Saleh, Gess Burkhardt, Bordignon Benoit, Altié Alexandre, Young Peter, Bihel Frederic, Fraterno Marc, Peiretti Franck, Fontes Michel

Orphanet J Rare Dis. 2015; 10: 56. Published online 2015 May 7. doi: 10.1186/s13023-015-0270-5

Correction in:: Orphanet J Rare Dis. 2016; 11: 6.

PMCID:: PMC4460704

Article PDF–1.3M

Select item 104974013.

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

S Cochrane, J Bergoffen, N D Fairweather, E Müller, M L Mostacciuolo, A P Monaco, K H Fischbeck, N E Haites

J Med Genet. 1994 Mar; 31(3): 193–196. doi: 10.1136/jmg.31.3.193

PMCID:: PMC1049740

Summary Page Browse PDF–475K

Select item 1100007314.

GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali

Abdoulaye Yalcouyé, Seybou H. Diallo, Lassana Cissé, Mamadou Karembé, Salimata Diallo, Thomas Coulibaly, Salimata Diarra, Dramane Coulibaly, Mohamed Keita, Cheick O. Guinto, Kenneth H. Fischbeck, Ambroise Wonkam, Guida Landouré, The H3Africa Consortium

J Peripher Nerv Syst. Author manuscript; available in PMC 2024 Apr 8.

Published in final edited form as: J Peripher Nerv Syst. 2022 Jun; 27(2): 113–119. Published online 2022 Apr 5. doi: 10.1111/jns.12486

PMCID:: PMC11000073

Article PDF–695K

Select item 1093714115.

Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation

Yukiyo Yoshimoto, Shoko Yoshimoto, Kensuke Kakiuchi, Rumina Miyagawa, Shin Ota, Takafumi Hosokawa, Shimon Ishida, Yujiro Higuchi, Akihiro Hashiguchi, Hiroshi Takashima, Shigeki Arawaka

Intern Med. 2024 Feb 15; 63(4): 571–576. Published online 2023 Jul 5. doi: 10.2169/internalmedicine.1713-23

PMCID:: PMC10937141

Article PDF–755K

Select item 1068106616.

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3

Manoj Kanhangad, Kayla Cornett, Megan H. Brewer, Garth A. Nicholson, Monique M. Ryan, Robert L. Smith, Gopinath M. Subramanian, Helen K. Young, Stephan Züchner, Marina L. Kennerson, Joshua Burns, Manoj P. Menezes

Neurology. 2018 May 8; 90(19): e1706–e1710. doi: 10.1212/WNL.0000000000005479

PMCID:: PMC10681066

Article PDF–672K

Select item 1064120017.

Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects

Ichiro Nozaki, Akihiro Hashiguchi, Hiroshi Takashima, Yoko Yamashita, Tomomi Higashide, Kazuo Iwasa, Kenjiro Ono

Intern Med. 2023 Oct 15; 62(20): 3033–3036. Published online 2023 Feb 15. doi: 10.2169/internalmedicine.1403-22

PMCID:: PMC10641200

Article PDF–401K

Select item 1037906318.

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

Article PDF–305K

Select item 995632919.

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases

Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, Gauhar Rehman, Hamza Khan, Mehwish Rehman, Najumuddin, Ilyas Ahmad, Muhmmad Tariq, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Muhammad Imran Naseer, Muhammad Shah Faisal, Naveed Wasif, Musharraf Jelani

Genes (Basel) 2023 Feb; 14(2): 328. Published online 2023 Jan 27. doi: 10.3390/genes14020328

PMCID:: PMC9956329

Article PDF–7.1M

Select item 967917120.

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Matthew J Jennings, Alexia Kagiava, Leen Vendredy, Emily L Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, Vicky De Winter, Burkhard Gess, Ulrike Schara, Oksana Pogoryelova, Hanns Lochmüller, Christoph H Borchers, Andreas Roos, Robert W Burgess, Vincent Timmerman, Kleopas A Kleopa, Rita Horvath

Brain. 2022 Nov; 145(11): 3999–4015. Published online 2022 Feb 11. doi: 10.1093/brain/awac055

PMCID:: PMC9679171

Article PDF–1.7M

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