A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome

Authors: Jianyu Wang, Chunhua Wang, Yujie Chen, Shuang Qi, Min Wang

Source: Frontiers in Endocrinology, Vol 16 (2025)

Subject Terms: diabetes, NEUROD1 mutation, MODY6, PMP22, CMT1A, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

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Relation: https://www.frontiersin.org/articles/10.3389/fendo.2025.1502783/full; https://doaj.org/toc/1664-2392

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Phosphodiesterase 4D inhibition improves the functional and molecular outcome in a mouse and human model of Charcot Marie Tooth disease 1 A

Authors: Schepers, Melissa ^{a, b, 1}, Vangansewinkel, Tim ^{c, e, 1}, Libberecht, Karen ^{c, e, 1}, Jeurissen, Hanne ^c, Jacobs, Darren ^{a, c}, Piccart, Elisabeth ^a, Prior, Robert ^{d, e, f}, Ricciarelli, Roberta ^{g, h}, Brullo, Chiara ⁱ, Fedele, Ernesto ^{g, j}, Bruno, Olga ⁱ, Prickaerts, Jos ^k, Lambrichts, Ivo ^c, Van Den Bosch, Ludo ^{d, e}, Vanmierlo, Tim ^{a, b, ⁎, 2}, Wolfs, Esther ^{c, ⁎⁎, 2}

Source: In Biomedicine & Pharmacotherapy February 2025 183

Postural balance and visual dependence in patients with demyelinating neuropathies differ between acquired and hereditary etiologies

Authors: Dupont, L. ^{a, ⁎}, Defebvre, L. ^a, Davion, J.-B. ^{a, b}, Delval, A. ^a, Tard, C. ^{a, b}

Source: In Revue Neurologique January-February 2025 181(1-2):98-105

Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature

Authors: Sara Massucco, Cristina Schenone, Elena Faedo, Chiara Gemelli, Emilia Bellone, Lucio Marinelli, Davide Pareyson, Chiara Pisciotta, Tiziana Mongini, Angelo Schenone, Marina Grandis

Source: Frontiers in Neurology, Vol 14 (2024)

Subject Terms: CMT, Charcot–Marie–Tooth disease, CMT1A, sleep disorders, sleep apnea, respiratory disorders, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1298473/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/ecc7757579ef4f69bbec7debe720e4d1

Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment

Authors: Malavika A. Nair, Zhiyv Niu, Nicholas N. Madigan, Alexander Y. Shin, Jeffrey S. Brault, Nathan P. Staff, Christopher J. Klein

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: CMT, clinical trials, neuropathy, gene therapy, CMT1A, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1251885/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/fffd27d25be6484893fe60078954b4a9

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A

Authors: Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Jafar Kafaie, Céline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter, Laurent Magy, Jeffrey M. Statland, Kevin Felice

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

Subject Terms: Charcot–Marie–Tooth, CMT1A, Neuromuscular disorder, Overall Neuropathy Limitations Scale, PMP22, PXT3003, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/cdd77817d00b47deb0f0fb315c44524e

Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A

Authors: Zhiyong Chen, Monica Saini, Shermyn X. M. Neo, Peng-Soon Ng, Jasmine S. Koh, Kalpana Prasad, Kamal Verma, Sonia Davila, Weng Khong Lim, Ziqun Phua, Michelle M. Li, Corrine Kang, Karine S. S. Tay, Josiah Y. H. Chai

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: Charcot-Marie-Tooth type 1A (CMT1A), CMT1A duplication, PMP22 protein, peripheral nerve ultrasound, Charcot-Marie-Tooth disease, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.826634/full; https://doaj.org/toc/1664-2295

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Physical and Mental Aspects of Quality of Life in Patients With Charcot-Marie-Tooth Disease Type 1A

Authors: Vukan Ivanovic, Bogdan Bjelica, Aleksa Palibrk, Marija Brankovic, Ivo Bozovic, Ivana Basta, Andrija Savic, Vidosava Rakocevic Stojanovic, Aleksandra Kacar

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: Charcot-Marie-Tooth type 1A (CMT1A), quality of life, impairment, disability, fatigue, depression, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.852150/full; https://doaj.org/toc/1664-2295

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Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements

Authors: Ah J. Lee, Da E. Nam, Yu J. Choi, Seung W. Noh, Soo H. Nam, Hye J. Lee, Seung J. Kim, Gyun J. Song, Byung‐Ok Choi, Ki W. Chung

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)

Subject Terms: Charcot–Marie–Tooth disease 1A (CMT1A), de novo mutation, gender specificity, hereditary neuropathy with liability to pressure palsies (HNPP), Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/fd6fa10346bf4094aadcbbfb4b7b085a

Exploiting Sphingo- and Glycerophospholipid Impairment to Select Effective Drugs and Biomarkers for CMT1A

Authors: Davide Visigalli, Giovanna Capodivento, Abdul Basit, Roberto Fernández, Zeeshan Hamid, Barbora Pencová, Chiara Gemelli, Daniela Marubbi, Cecilia Pastorino, Adrienne M. Luoma, Christian Riekel, Daniel A. Kirschner, Angelo Schenone, José A. Fernández, Andrea Armirotti, Lucilla Nobbio

Source: Frontiers in Neurology, Vol 11 (2020)

Subject Terms: CMT1A, biomarker, drug, myelin, lipid metabolism, Schwann cell, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00903/full; https://doaj.org/toc/1664-2295

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Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients

Authors: Fukiko Kitani-Morii, Yu-ichi Noto, Yukiko Tsuji, Kensuke Shiga, Ikuko Mizuta, Masanori Nakagawa, Toshiki Mizuno

Source: Frontiers in Neurology, Vol 11 (2020)

Subject Terms: Charcot-Marie-Tooth disease (CMT1A), CMTNS, CMTES, older, progression, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00626/full; https://doaj.org/toc/1664-2295

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Tolerability and efficacy study of P2X7 inhibition in experimental Charcot-Marie-Tooth type 1A (CMT1A) neuropathy

Authors: Giovanna Sociali, Davide Visigalli, Thomas Prukop, Ilaria Cervellini, Elena Mannino, Consuelo Venturi, Santina Bruzzone, Michael W. Sereda, Angelo Schenone

Source: Neurobiology of Disease, Vol 95, Iss , Pp 145-157 (2016)

Subject Terms: CMT1A, PMP22, P2X7, Myelination, SC differentiation markers, Grip strength test, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

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Relation: http://www.sciencedirect.com/science/article/pii/S0969996116301735; https://doaj.org/toc/1095-953X

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Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Authors: Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim

Source: Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 199-204 (2015)

Subject Terms: CMT1A, DMD, PMP22, Combined microduplications, Dystrophin gene, Array comparative genomic hybridization (array CGH), Chromosomal microarray, Medicine (General), R5-920, Genetics, QH426-470

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Relation: http://www.sciencedirect.com/science/article/pii/S111086301400130X; https://doaj.org/toc/1110-8630

Access URL: https://doaj.org/article/e8fd60b51f92434cb0ff81b180c59a3b

An essential role of MAG in mediating axon–myelin attachment in Charcot–Marie–Tooth 1A disease

Authors: Jochen Kinter, Thomas Lazzati, Daniela Schmid, Thomas Zeis, Beat Erne, Roland Lützelschwab, Andreas J. Steck, Davide Pareyson, Elior Peles, Nicole Schaeren-Wiemers

Source: Neurobiology of Disease, Vol 49, Iss , Pp 221-231 (2013)

Subject Terms: Myelin associated protein (MAG), Nectin-like protein (Necl4), Peripheral neuropathy, CMT1A, Axonal pathology, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

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Relation: http://www.sciencedirect.com/science/article/pii/S0969996112002963; https://doaj.org/toc/1095-953X

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The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration

Authors: Gerd Meyer zu Horste, Timo A. Miesbach, Johanna I. Muller, Robert Fledrich, Ruth M. Stassart, Bernd C. Kieseier, Michael P. Coleman, Michael W. Sereda

Source: Neurobiology of Disease, Vol 42, Iss 1, Pp 1-8 (2011)

Subject Terms: Wallerian-degeneration-slow, Charcot-Marie-Tooth disease 1A, CMT1A, Hereditary neuropathy, Axonal degeneration, Traumatic nerve injury, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

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Relation: http://www.sciencedirect.com/science/article/pii/S0969996110003992; https://doaj.org/toc/1095-953X

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The α-chemokine CXCL14 is up-regulated in the sciatic nerve of a mouse model of Charcot–Marie–Tooth disease type 1A and alters myelin gene expression in cultured Schwann cells

Authors: Elena M. Barbaria, Bianca Kohl, Bettina A. Buhren, Kerstin Hasenpusch-Theil, Fabian Kruse, Patrick Küry, Rudolf Martini, Hans Werner Müller

Source: Neurobiology of Disease, Vol 33, Iss 3, Pp 448-458 (2009)

Subject Terms: CMT1A, Pmp22, C61 mouse mutant, Myelin, Schwann cells, Cyclin D1, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996108003021; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/2f130258a17349379bba160a2738c872

Pharmacological induction of the heat shock response improves myelination in a neuropathic model

Authors: Sunitha Rangaraju, Irina Madorsky, Jocelyn Go Pileggi, Adeela Kamal, Lucia Notterpek

Source: Neurobiology of Disease, Vol 32, Iss 1, Pp 105-115 (2008)

Subject Terms: CMT1A neuropathy, Demyelination, Schwann cells, Protein misfolding, Heat shock response, Heat shock proteins, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

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Relation: http://www.sciencedirect.com/science/article/pii/S0969996108001381; https://doaj.org/toc/1095-953X

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Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

Authors: Marques Jr., W., Sweeney, M.G., Wood, N.W.

Source: Brazilian Journal of Medical and Biological Research. October 2003 36(10)

Subject Terms: Charcot-Marie-Tooth disease, CMT1A, PMP22 point mutation, 17p duplication, Hotspot

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Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000018

Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease

Authors: Lucilla Nobbio, Tiziana Vigo, Michele Abbruzzese, Giovanni Levi, Claudio Brancolini, Stefano Mantero, Marina Grandis, Luana Benedetti, Gianluigi Mancardi, Angelo Schenone

Source: Neurobiology of Disease, Vol 16, Iss 1, Pp 263-273 (2004)

Subject Terms: CMT1A, Hereditary neuropathy, PMP22, Schwann cell, Axon, Motility, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996104000415; https://doaj.org/toc/1095-953X

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Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

Authors: W. Marques Jr., M.G. Sweeney, N.W. Wood

Source: Brazilian Journal of Medical and Biological Research, Vol 36, Iss 10, Pp 1403-1407 (2003)

Subject Terms: Charcot-Marie-Tooth disease, CMT1A, PMP22 point mutation, 17p duplication, Hotspot, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000018; https://doaj.org/toc/0100-879X; https://doaj.org/toc/1414-431X

Access URL: https://doaj.org/article/434b57d325554b6c86e9471c614d23ec