{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T20:55:30Z","timestamp":1791665730656,"version":"4.3.4"},"reference-count":210,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,3]],"date-time":"2026-01-03T00:00:00Z","timestamp":1767398400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Hereditary polyneuropathies represent a genetically and clinically heterogeneous group of disorders affecting the peripheral nervous system, characterized by progressive motor, sensory, and autonomic impairment. Advances in molecular genetics have identified key causative genes, including PMP22, MPZ, MFN2, TTR, EGR2, and CX32 (GJB1), which are implicated in Charcot\u2013Marie\u2013Tooth disease, Dejerine\u2013Sottas syndrome, and related neuropathies. These conditions display substantial allelic and locus heterogeneity. Pathogenetically, mechanisms involve impaired myelin maintenance, disrupted axonal transport, mitochondrial dysfunction, and aberrant Schwann cell biology. Despite these insights, therapeutic options remain limited, and there is a pressing need to translate genetic findings into effective interventions. This review aims to provide a comprehensive synthesis of current knowledge compiling all known mutations resulting in hereditary polyneuropathies. In addition, it underscores the molecular pathomechanisms of hereditary polyneuropathies and evaluates emerging therapeutic strategies, including adeno-associated virus mediated RNA interference, CRISPR-based gene editing, antisense oligonucleotide therapy, and small-molecule modulators of axonal degeneration. Furthermore, the integration of precision diagnostics, such as next-generation sequencing and functional genomic approaches, is discussed in the context of personalized disease management. Collectively, this review underscores the need for patient-centered approaches in advancing care for individuals with hereditary polyneuropathies.<\/jats:p>","DOI":"10.3390\/genes17010056","type":"journal-article","created":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T13:35:47Z","timestamp":1767620147000},"page":"56","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-6749-8379","authenticated-orcid":false,"given":"Maria","family":"Chrysostomaki","sequence":"first","affiliation":[{"name":"Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-2200-392X","authenticated-orcid":false,"given":"Despoina","family":"Chatzi","sequence":"additional","affiliation":[{"name":"Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-8622-9318","authenticated-orcid":false,"given":"Stella Aikaterini","family":"Kyriakoudi","sequence":"additional","affiliation":[{"name":"Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7929-9110","authenticated-orcid":false,"given":"Soultana","family":"Meditskou","sequence":"additional","affiliation":[{"name":"Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7075-878X","authenticated-orcid":false,"given":"Maria Eleni","family":"Manthou","sequence":"additional","affiliation":[{"name":"Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4280-0933","authenticated-orcid":false,"given":"Sofia","family":"Gargani","sequence":"additional","affiliation":[{"name":"Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8607-6695","authenticated-orcid":false,"given":"Paschalis","family":"Theotokis","sequence":"additional","affiliation":[{"name":"Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9134-1083","authenticated-orcid":false,"given":"Iasonas","family":"Dermitzakis","sequence":"additional","affiliation":[{"name":"Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e70301","DOI":"10.1111\/ene.70301","article-title":"Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy","volume":"32","author":"Kodal","year":"2025","journal-title":"Eur. J. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2629","DOI":"10.1007\/s00415-019-09453-3","article-title":"Mutation Update for Myelin Protein Zero-Related Neuropathies and the Increasing Role of Variants Causing a Late-Onset Phenotype","volume":"266","author":"Callegari","year":"2019","journal-title":"J. Neurol."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Aberle, T., Walter, A., Piefke, S., Hillg\u00e4rtner, S., W\u00fcst, H.M., Wegner, M., and K\u00fcspert, M. (2024). Sox10 Activity and the Timing of Schwann Cell Differentiation Are Controlled by a Tle4-Dependent Negative Feedback Loop. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25105234"},{"key":"ref_4","first-page":"91","article-title":"Hereditary Neuropathies","volume":"115","author":"Eggermann","year":"2018","journal-title":"Dtsch. \u00c4rztebl. Int."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Hustinx, M., Shorrocks, A.-M., and Servais, L. (2023). Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review. Pharmaceutics, 15.","DOI":"10.3390\/pharmaceutics15061626"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/ng0492-29","article-title":"Gene Dosage Is a Mechanism for Charcot-Marie-Tooth Disease Type 1A","volume":"1","author":"Lupski","year":"1992","journal-title":"Nat. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/gm42","article-title":"Genomic Disorders Ten Years On","volume":"1","author":"Lupski","year":"2009","journal-title":"Genome Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.1468-1331.2010.03037.x","article-title":"Genetic Epidemiology of Charcot-Marie-Tooth in the General Population","volume":"18","author":"Braathen","year":"2011","journal-title":"Eur. J. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1002\/(SICI)1098-1136(199806)23:2<89::AID-GLIA1>3.0.CO;2-Z","article-title":"Improved Culture Methods to Expand Schwann Cells with Altered Growth Behaviour from CMT1A Patients","volume":"23","author":"Hanemann","year":"1998","journal-title":"Glia"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.nbd.2004.02.007","article-title":"Impairment of PMP22 Transgenic Schwann Cells Differentiation in Culture: Implications for Charcot-Marie-Tooth Type 1A Disease","volume":"16","author":"Nobbio","year":"2004","journal-title":"Neurobiol. Dis."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s12035-012-8370-x","article-title":"The PMP22 Gene and Its Related Diseases","volume":"47","author":"Li","year":"2013","journal-title":"Mol. Neurobiol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/0960-8966(91)90055-W","article-title":"Duplication in Chromosome 17p11.2 in Charcot-Marie-Tooth Neuropathy Type 1a (CMT 1a)","volume":"1","author":"Raeymaekers","year":"1991","journal-title":"Neuromuscul. Disord."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/0022-510X(88)90018-4","article-title":"Peripheral Demyelination and Remyelination Initiated by the Calcium-Selective Ionophore Ionomycin: In Vivo Observations","volume":"83","author":"Smith","year":"1988","journal-title":"J. Neurol. Sci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1093\/brain\/120.3.465","article-title":"The Phenotypic Manifestations of Chromosome 17p11.2 Duplication","volume":"120","author":"Thomas","year":"1997","journal-title":"Brain"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1212\/WNL.53.4.846","article-title":"Myelin Uncompaction in Charcot-Marie-Tooth Neuropathy Type 1A with a Point Mutation of Peripheral Myelin Protein-22","volume":"53","author":"Fabrizi","year":"1999","journal-title":"Neurology"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.nbd.2004.10.023","article-title":"Distinct Disease Mechanisms in Peripheral Neuropathies Due to Altered Peripheral Myelin Protein 22 Gene Dosage or a Pmp22 Point Mutation","volume":"18","author":"Buchstaller","year":"2005","journal-title":"Neurobiol. Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1038\/nn1426","article-title":"High Cholesterol Level Is Essential for Myelin Membrane Growth","volume":"8","author":"Saher","year":"2005","journal-title":"Nat. Neurosci."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"S242","DOI":"10.1002\/humu.1380110178","article-title":"Mutation Analysis in Charcot\u2013Marie\u2013Tooth Disease Type 1 (CMT1)","volume":"8","author":"Sorour","year":"1998","journal-title":"Hum. Mutat."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s10048-023-00729-5","article-title":"Rare PMP22 Variants in Mild to Severe Neuropathy Uncorrelated to Plasma GDF15 or Neurofilament Light","volume":"24","author":"Palu","year":"2023","journal-title":"Neurogenetics"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1212\/WNL.51.3.702","article-title":"A Novel PMP22 Point Mutation Causing HNPP Phenotype","volume":"51","author":"Sahenk","year":"1998","journal-title":"Neurology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1101\/gr.180401","article-title":"The 1.4-Mb CMT1A Duplication\/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes","volume":"11","author":"Inoue","year":"2001","journal-title":"Genome Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1766","DOI":"10.1212\/WNL.45.9.1766","article-title":"Dejerine-Sottas Disease with de Novo Dominant Point Mutation of the PMP22 Gene","volume":"45","author":"Ionasescu","year":"1995","journal-title":"Neurology"},{"key":"ref_23","first-page":"280","article-title":"Segmental Demyelinization in Dejerine-Sottas Disease: Light, Phase-Contrast, and Electron Microscopic Studies","volume":"43","author":"Dyck","year":"1968","journal-title":"Mayo Clin. Proc."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/humu.1380050110","article-title":"D\u00e9j\u00e9rine-Sottas Neuropathy Is Associated with a de Novo PMP22 Mutation","volume":"5","author":"Valentijn","year":"1995","journal-title":"Hum. Mutat."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1046\/j.1469-7580.2002.00043.x","article-title":"Dejerine\u2013Sottas Syndrome Grown to Maturity: Overview of Genetic and Morphological Heterogeneity and Follow-up of 25 Patients","volume":"200","year":"2002","journal-title":"J. Anat."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1111\/j.1600-0404.2004.00295.x","article-title":"Dejerine\u2013Sottas\u2019 Neuropathy Caused by the Missense Mutation PMP22 Ser72Leu","volume":"110","author":"Marques","year":"2004","journal-title":"Acta Neurol. Scand."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1193-269","article-title":"Dejerine\u2013Sottas Syndrome Associated with Point Mutation in the Peripheral Myelin Protein 22 (PMP22) Gene","volume":"5","author":"Roa","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1136\/jnnp.70.1.123","article-title":"PMP22 Related Congenital Hypomyelination Neuropathy","volume":"70","author":"Fabrizi","year":"2001","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/0960-8966(94)90049-3","article-title":"The Status of HMSN Type III","volume":"4","author":"Jennekens","year":"1994","journal-title":"Neuromuscul. Disord."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1007\/BF00206959","article-title":"Rapid Screening of Myelin Genes in CMT1 Patients by SSCP Analysis: Identification of New Mutations and Polymorphisms in the P 0 Gene","volume":"94","author":"Nelis","year":"1994","journal-title":"Hum. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/BF00278187","article-title":"The CpG Dinucleotide and Human Genetic Disease","volume":"78","author":"Cooper","year":"1988","journal-title":"Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.nbd.2012.08.009","article-title":"An Essential Role of MAG in Mediating Axon-Myelin Attachment in Charcot-Marie-Tooth 1A Disease","volume":"49","author":"Kinter","year":"2013","journal-title":"Neurobiol. Dis."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"iv-22","DOI":"10.1111\/ane.12013","article-title":"Genetic Epidemiology of Charcot-Marie-Tooth Disease","volume":"126","author":"Braathen","year":"2012","journal-title":"Acta Neurol. Scand. Suppl."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/BF00313754","article-title":"Hereditary Neuropathy with Liability to Pressure Palsies","volume":"228","author":"Meier","year":"1982","journal-title":"J. Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.jns.2014.03.046","article-title":"Clinical, Neurophysiological and Pathological Findings of HNPP Patients with 17p12 Deletion: A Single-Centre Experience","volume":"341","author":"Luigetti","year":"2014","journal-title":"J. Neurol. Sci."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/BF00216152","article-title":"Gene for Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Maps to Chromosome 17 at or Close to the Locus for HMSN Type 1","volume":"92","author":"Mariman","year":"1993","journal-title":"Hum. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1016\/S0887-8994(99)00086-7","article-title":"Hereditary Neuropathy with Liability to Pressure Palsies in Children","volume":"21","author":"Felice","year":"1999","journal-title":"Pediatr. Neurol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s13052-022-01280-z","article-title":"Hereditary Neuropathy with Liability to Pressure Palsies (HNPP): Intrafamilial Phenotypic Variability and Early Childhood Refusal to Walk as the Presenting Symptom","volume":"48","author":"Karklinsky","year":"2022","journal-title":"Ital. J. Pediatr."},{"key":"ref_39","first-page":"60","article-title":"About families with hereditary disposition to the development of neuritides, correlated with migraine","volume":"50","year":"1947","journal-title":"Monatsschrift Psychiatr. Neurol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1097\/01.mao.0000169769.93173.df","article-title":"Sensorineural Hearing Impairment in Patients with Pmp22 Duplication, Deletion, and Frameshift Mutations","volume":"26","author":"Verhagen","year":"2005","journal-title":"Otol. Neurotol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.nmd.2015.06.463","article-title":"Hereditary Neuropathy with Liability to Pressure Palsies in Childhood: Case Series and Literature Update","volume":"25","author":"Chrestian","year":"2015","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/ng0394-263","article-title":"A Frame Shift Mutation in the PMP22 Gene in Hereditary Neuropathy with Liability to Pressure Palsies","volume":"6","author":"Nicholson","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"M211","DOI":"10.1093\/gerona\/50A.4.M211","article-title":"Peripheral Neuropathy: A True Risk Factor for Falls","volume":"50","author":"Richardson","year":"1995","journal-title":"J. Gerontol. Ser. A"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1136\/jnnp.48.12.1269","article-title":"Congenital Hypomyelinating Neuropathy","volume":"48","author":"Harati","year":"1985","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/S0887-8994(98)00138-6","article-title":"Congenital Hypomyelinating Neuropathy: Two Patients with Long-Term Follow-Up","volume":"20","author":"Phillips","year":"1999","journal-title":"Pediatr. Neurol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0896-6273(00)80177-4","article-title":"Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot\u2013Marie\u2013Tooth Type 1B, Dejerine\u2013Sottas, and Congenital Hypomyelination","volume":"17","author":"Warner","year":"1996","journal-title":"Neuron"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"783-vii","DOI":"10.1016\/j.ncl.2007.04.001","article-title":"Rapidly Progressive Dementia","volume":"25","author":"Geschwind","year":"2007","journal-title":"Neurol. Clin."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1093\/hmg\/2.12.2031","article-title":"Origin of the de Novo Duplication in Charcot\u2014Marie\u2014Tooth Disease Type 1A: Unequal Nonsister Chromatid Exchange during Spermatogenesis","volume":"2","author":"Palau","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1111\/j.1600-0404.1971.tb07466.x","article-title":"Roussy-L\u00e9vy Syndrome: Report of a Kindred and Discussion of the Nosology","volume":"47","author":"Oelschlager","year":"1971","journal-title":"Acta Neurol. Scand."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.ajhg.2015.10.003","article-title":"Nonrecurrent 17p11.2p12 Rearrangement Events That Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome","volume":"97","author":"Yuan","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1002\/1531-8249(199911)46:5<770::AID-ANA13>3.0.CO;2-U","article-title":"The Roussy-L\u00e9vy Family: From the Original Description to the Gene","volume":"46","author":"Lacroix","year":"1999","journal-title":"Ann. Neurol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"4357","DOI":"10.1007\/s10072-021-05451-4","article-title":"Roussy-L\u00e9vy Syndrome: A Case of Genotype\u2013Phenotype Correlation","volume":"42","author":"Cioffi","year":"2021","journal-title":"Neurol. Sci."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0896-6273(00)80176-2","article-title":"Crystal Structure of the Extracellular Domain from P0, the Major Structural Protein of Peripheral Nerve Myelin","volume":"17","author":"Shapiro","year":"1996","journal-title":"Neuron"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/0896-6273(88)90211-5","article-title":"Isolation and Analysis of the Gene Encoding Peripheral Myelin Protein Zero","volume":"1","author":"Lemke","year":"1988","journal-title":"Neuron"},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Raasakka, A., and Kursula, P. (2020). How Does Protein Zero Assemble Compact Myelin?. Cells, 9.","DOI":"10.20944\/preprints202005.0222.v1"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"110989","DOI":"10.1016\/j.isci.2024.110989","article-title":"PMP22 Associates with MPZ via Their Transmembrane Domains and Disrupting This Interaction Causes a Loss-of-Function Phenotype Similar to Hereditary Neuropathy Associated with Liability to Pressure Palsies (HNPP)","volume":"27","author":"Pashkova","year":"2024","journal-title":"iScience"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"3198","DOI":"10.1128\/MCB.20.9.3198-3209.2000","article-title":"Protein Zero Gene Expression Is Regulated by the Glial Transcription Factor Sox10","volume":"20","author":"Peirano","year":"2000","journal-title":"Mol. Cell. Biol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1093\/brain\/awh048","article-title":"Phenotypic Clustering in MPZ Mutations","volume":"127","author":"Shy","year":"2004","journal-title":"Brain"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1523\/JNEUROSCI.02-09-01252.1982","article-title":"Studies on the Control of Myelinogenesis. IV. Neuronal Induction of Schwann Cell Myelin-Specific Protein Synthesis during Nerve Fiber Regeneration","volume":"2","author":"Politis","year":"1982","journal-title":"J. Neurosci. Off. J. Soc. Neurosci."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/j.cell.2015.07.021","article-title":"Macrophage-Induced Blood Vessels Guide Schwann Cell-Mediated Regeneration of Peripheral Nerves","volume":"162","author":"Cattin","year":"2015","journal-title":"Cell"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1093\/brain\/123.2.222","article-title":"Charcot\u2013Marie\u2013Tooth Disease Type 1: Molecular Pathogenesis to Gene Therapy","volume":"123","author":"Kamholz","year":"2000","journal-title":"Brain"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"4255","DOI":"10.1093\/hmg\/ddac170","article-title":"A Novel Mouse Model of CMT1B Identifies Hyperglycosylation as a New Pathogenetic Mechanism","volume":"31","author":"Veneri","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.jns.2005.11.015","article-title":"Peripheral Neuropathies Caused by Mutations in the Myelin Protein Zero","volume":"242","author":"Shy","year":"2006","journal-title":"J. Neurol. Sci."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1002\/acn3.543","article-title":"Myelin Protein Zero Mutations and the Unfolded Protein Response in Charcot Marie Tooth Disease Type 1B","volume":"5","author":"Bai","year":"2018","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1212\/WNL.52.6.1271","article-title":"A Novel MPZ Gene Mutation in Dominantly Inherited Neuropathy with Focally Folded Myelin Sheaths","volume":"52","author":"Nakagawa","year":"1999","journal-title":"Neurology"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"S103","DOI":"10.1002\/humu.1380110134","article-title":"De Novo Mutation of the Myelin Po Gene in D\u00e9j\u00e9rine-Sottas Disease (Hereditary Motor and Sensory Neuropathy Type III): Two Amino Acid Insertion after Asp 118","volume":"11","author":"Ikegami","year":"1998","journal-title":"Hum. Mutat."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1006\/bbrc.1996.0705","article-title":"A Novel Homozygous Mutation of the Myelin Po Gene Producing Dejerine-Sottas Disease (Hereditary Motor and Sensory Neuropathy Type III)","volume":"222","author":"Ikegami","year":"1996","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"2358","DOI":"10.1523\/JNEUROSCI.3819-05.2006","article-title":"Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice","volume":"26","author":"Wrabetz","year":"2006","journal-title":"J. Neurosci."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/ng1322","article-title":"Molecular Mechanism for Distinct Neurological Phenotypes Conveyed by Allelic Truncating Mutations","volume":"36","author":"Inoue","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"3180","DOI":"10.1093\/brain\/awv241","article-title":"Genotype-Phenotype Characteristics and Baseline Natural History of Heritable Neuropathies Caused by Mutations in the MPZ Gene","volume":"138","author":"Sanmaneechai","year":"2015","journal-title":"Brain J. Neurol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ana.22166","article-title":"Charcot-Marie-Tooth Disease Subtypes and Genetic Testing Strategies","volume":"69","author":"Saporta","year":"2011","journal-title":"Ann. Neurol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"2032","DOI":"10.1093\/brain\/aws140","article-title":"MpzR98C Arrests Schwann Cell Development in a Mouse Model of Early-Onset Charcot-Marie-Tooth Disease Type 1B","volume":"135","author":"Saporta","year":"2012","journal-title":"Brain J. Neurol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/jns.12452","article-title":"Loss of Function MPZ Mutation Causes Milder CMT1B Neuropathy","volume":"26","author":"Howard","year":"2021","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_74","doi-asserted-by":"crossref","unstructured":"Stavrou, M., Sargiannidou, I., Georgiou, E., Kagiava, A., and Kleopa, K.A. (2021). Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22116048"},{"key":"ref_75","doi-asserted-by":"crossref","unstructured":"McCulloch, M.K., Mehryab, F., and Rashnonejad, A. (2024). Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25179227"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/S0960-8966(99)00031-0","article-title":"Peripheral Myelin Modification in CMT1B Correlates with MPZ Gene Mutations","volume":"9","author":"Lagueny","year":"1999","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the Mitochondrial GTPase Mitofusin 2 Cause Charcot-Marie-Tooth Neuropathy Type 2A","volume":"36","author":"Mersiyanova","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"4914","DOI":"10.1038\/s41467-019-12912-0","article-title":"Structural Insights of Human Mitofusin-2 into Mitochondrial Fusion and CMT2A Onset","volume":"10","author":"Li","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1083\/jcb.200611080","article-title":"Complementation between Mouse Mfn1 and Mfn2 Protects Mitochondrial Fusion Defects Caused by CMT2A Disease Mutations","volume":"176","author":"Detmer","year":"2007","journal-title":"J. Cell Biol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.tcb.2020.09.008","article-title":"Mitochondrial Fusion: The Machineries In and Out","volume":"31","author":"Gao","year":"2021","journal-title":"Trends Cell Biol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"17190","DOI":"10.1074\/jbc.M212754200","article-title":"Mitofusin-2 Determines Mitochondrial Network Architecture and Mitochondrial Metabolism. A Novel Regulatory Mechanism Altered in Obesity","volume":"278","author":"Bach","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1093\/hmg\/ddi149","article-title":"The Charcot\u2013Marie\u2013Tooth Type 2A Gene Product, Mfn2, up-Regulates Fuel Oxidation through Expression of OXPHOS System","volume":"14","author":"Pich","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1172\/JCI200317741","article-title":"Neuronal Degeneration and Mitochondrial Dysfunction","volume":"111","author":"Schon","year":"2003","journal-title":"J. Clin. Investig."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"e84235","DOI":"10.7554\/eLife.84235","article-title":"A Human Mitofusin 2 Mutation Can Cause Mitophagic Cardiomyopathy","volume":"12","author":"Franco","year":"2023","journal-title":"eLife"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/mus.23892","article-title":"X-Linked Charcot-Marie-Tooth Disease Predominates in a Cohort of Multiethnic Malaysian Patients","volume":"49","author":"Shahrizaila","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/jns5.12066","article-title":"Characterization of the Mitofusin 2 R94W Mutation in a Knock-in Mouse Model","volume":"19","author":"Strickland","year":"2014","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1093\/brain\/awl126","article-title":"MFN2 Mutation Distribution and Genotype\/Phenotype Correlation in Charcot-Marie-Tooth Type 2","volume":"129","author":"Verhoeven","year":"2006","journal-title":"Brain J. Neurol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"134673","DOI":"10.1016\/j.ijbiomac.2024.134673","article-title":"Mfn2R364W, Mfn2G176S, and Mfn2H165R Mutations Drive Charcot-Marie-Tooth Type 2A Disease by Inducing Apoptosis and Mitochondrial Oxidative Phosphorylation Damage","volume":"278","author":"Zhang","year":"2024","journal-title":"Int. J. Biol. Macromol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/nature20156","article-title":"Correcting Mitochondrial Fusion by Manipulating Mitofusin Conformations","volume":"540","author":"Franco","year":"2016","journal-title":"Nature"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1126\/science.aao1785","article-title":"MFN2 Agonists Reverse Mitochondrial Defects in Preclinical Models of Charcot-Marie-Tooth Disease Type 2A","volume":"360","author":"Rocha","year":"2018","journal-title":"Science"},{"key":"ref_91","doi-asserted-by":"crossref","unstructured":"Franco, A., Walton, C.E., and Dang, X. (2022). Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases. Life, 12.","DOI":"10.3390\/life12122110"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0022-510X(00)00497-4","article-title":"Charcot-Marie-Tooth Disease (CMT): Distinctive Phenotypic and Genotypic Features in CMT Type 2","volume":"184","author":"Gemignani","year":"2001","journal-title":"J. Neurol. Sci."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.28.1.1","article-title":"Hereditary Motor and Sensory Neuropathies","volume":"28","author":"Vance","year":"1991","journal-title":"J. Med. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1212\/WNL.0b013e31821a441e","article-title":"MFN2 Mutations Cause Severe Phenotypes in Most Patients with CMT2A","volume":"76","author":"Feely","year":"2011","journal-title":"Neurology"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1093\/hmg\/5.9.1373","article-title":"Autosomal Dominant Charcot-Marie-Tooth Axonal Neuropathy Mapped on Chromosome 7p (CMT2D)","volume":"5","author":"Ionasescu","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/ana.20797","article-title":"Axonal Neuropathy with Optic Atrophy Is Caused by Mutations in Mitofusin 2","volume":"59","author":"Jordanova","year":"2006","journal-title":"Ann. Neurol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1073\/pnas.90.6.2375","article-title":"Disruption of the Transthyretin Gene Results in Mice with Depressed Levels of Plasma Retinol and Thyroid Hormone","volume":"90","author":"Episkopou","year":"1993","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/s40120-020-00217-0","article-title":"A Narrative Review of the Role of Transthyretin in Health and Disease","volume":"9","author":"Liz","year":"2020","journal-title":"Neurol. Ther."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"3220","DOI":"10.1523\/JNEUROSCI.6012-08.2009","article-title":"Transthyretin Internalization by Sensory Neurons Is Megalin Mediated and Necessary for Its Neuritogenic Activity","volume":"29","author":"Fleming","year":"2009","journal-title":"J. Neurosci. Off. J. Soc. Neurosci."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1046\/j.1471-4159.2003.02309.x","article-title":"Transthyretin Is Involved in Depression-like Behaviour and Exploratory Activity","volume":"88","author":"Sousa","year":"2004","journal-title":"J. Neurochem."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1111\/j.1471-4159.2010.07047.x","article-title":"CSF Transthyretin Neuroprotection in a Mouse Model of Brain Ischemia","volume":"115","author":"Santos","year":"2010","journal-title":"J. Neurochem."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.nlm.2007.07.006","article-title":"Transthyretin Influences Spatial Reference Memory","volume":"88","author":"Sousa","year":"2007","journal-title":"Neurobiol. Learn. Mem."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.1016\/j.neurobiolaging.2007.04.007","article-title":"Transthyretin: A Key Gene Involved in the Maintenance of Memory Capacities during Aging","volume":"29","author":"Brouillette","year":"2008","journal-title":"Neurobiol. Aging"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s10238-010-0103-8","article-title":"Serum Prealbumin (Transthyretin) Predict Good Outcome in Young Patients with Cerebral Infarction","volume":"11","author":"Gao","year":"2011","journal-title":"Clin. Exp. Med."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"8368","DOI":"10.1073\/pnas.91.18.8368","article-title":"Transthyretin Sequesters Amyloid Beta Protein and Prevents Amyloid Formation","volume":"91","author":"Schwarzman","year":"1994","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"17","DOI":"10.3233\/JAD-2008-14102","article-title":"Quantitative Analysis of Transthyretin, Tau and Amyloid-Beta in Patients with Dementia","volume":"14","author":"Gloeckner","year":"2008","journal-title":"J. Alzheimer\u2019s Dis. JAD"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1111\/j.1600-0404.1988.tb03687.x","article-title":"Reduced Prealbumin (Transthyretin) in CSF of Severely Demented Patients with Alzheimer\u2019s Disease","volume":"78","year":"1988","journal-title":"Acta Neurol. Scand."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1586\/eem.12.2","article-title":"Transthyretin: Roles in the Nervous System beyond Thyroxine and Retinol Transport","volume":"7","author":"Oliveira","year":"2012","journal-title":"Expert Rev. Endocrinol. Metab."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1007\/s10072-012-1105-y","article-title":"TTR-Related Amyloid Neuropathy: Clinical, Electrophysiological and Pathological Findings in 15 Unrelated Patients","volume":"34","author":"Luigetti","year":"2013","journal-title":"Neurol. Sci."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"35028","DOI":"10.1038\/s41598-025-21745-5","article-title":"Polyneuropathy in Hereditary and Wildtype Transthyretin Amyloidosis, Comparison of Key Clinical Features and Red Flags","volume":"15","author":"Siemer","year":"2025","journal-title":"Sci. Rep."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1093\/eurheartj\/ehr383","article-title":"Cardiac Phenotype and Clinical Outcome of Familial Amyloid Polyneuropathy Associated with Transthyretin Alanine 60 Variant","volume":"33","author":"Sattianayagam","year":"2012","journal-title":"Eur. Heart J."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1212\/01.wnl.0000267338.45673.f4","article-title":"Diagnostic Pitfalls in Sporadic Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP)","volume":"69","author":"Ferreira","year":"2007","journal-title":"Neurology"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1080\/13506120600960882","article-title":"Orally Administered Diflunisal Stabilizes Transthyretin against Dissociation Required for Amyloidogenesis","volume":"13","author":"Sekijima","year":"2006","journal-title":"Amyloid"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1134\/S0006297912030017","article-title":"Cys2His2 Zinc Finger Protein Family: Classification, Functions, and Major Members","volume":"77","author":"Razin","year":"2012","journal-title":"Biochem. Biokhimiia"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/0896-6273(90)90106-P","article-title":"The Regulation and Function of C-Fos and Other Immediate Early Genes in the Nervous System","volume":"4","author":"Sheng","year":"1990","journal-title":"Neuron"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"2749","DOI":"10.1093\/nar\/18.9.2749","article-title":"The Serum and TPA Responsive Promoter and Intron-Exon Structure of EGR2, a Human Early Growth Response Gene Encoding a Zinc Finger Protein","volume":"18","author":"Rangnekar","year":"1990","journal-title":"Nucleic Acids Res."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/S0166-2236(98)01343-5","article-title":"The EGR Family of Transcription-Regulatory Factors: Progress at the Interface of Molecular and Systems Neuroscience","volume":"22","author":"Tourtellotte","year":"1999","journal-title":"Trends Neurosci."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/371796a0","article-title":"Krox-20 Controls Myelination in the Peripheral Nervous System","volume":"371","author":"Topilko","year":"1994","journal-title":"Nature"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1038\/ng0498-382","article-title":"Mutations in the Early Growth Response 2 (EGR2) Gene Are Associated with Hereditary Myelinopathies","volume":"18","author":"Warner","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0896-6273(01)00282-3","article-title":"EGR2 Mutations in Inherited Neuropathies Dominant-Negatively Inhibit Myelin Gene Expression","volume":"30","author":"Nagarajan","year":"2001","journal-title":"Neuron"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"3521","DOI":"10.1128\/MCB.01689-06","article-title":"Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10","volume":"27","author":"LeBlanc","year":"2007","journal-title":"Mol. Cell. Biol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"8959","DOI":"10.1093\/nar\/gkaa606","article-title":"Egr2-Guided Histone H2B Monoubiquitination Is Required for Peripheral Nervous System Myelination","volume":"48","author":"Wegener","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4","article-title":"A Novel Mutation (D305V) in the Early Growth Response 2 Gene Is Associated with Severe Charcot-Marie-Tooth Type 1 Disease","volume":"14","author":"Bellone","year":"1999","journal-title":"Hum. Mutat."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0022-510X(03)00028-5","article-title":"Screening of the Early Growth Response 2 Gene in Japanese Patients with Charcot-Marie-Tooth Disease Type 1","volume":"210","author":"Numakura","year":"2003","journal-title":"J. Neurol. Sci."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"1762","DOI":"10.1212\/WNL.0000000000002659","article-title":"Target-Enrichment Sequencing and Copy Number Evaluation in Inherited Polyneuropathy","volume":"86","author":"Wang","year":"2016","journal-title":"Neurology"},{"key":"ref_126","first-page":"104","article-title":"Charcot-Marie-Tooth Disease with Pyramidal Features Due to a New Mutation of EGR2 Gene","volume":"90","author":"Fusco","year":"2019","journal-title":"Acta Bio-Medica Atenei Parm."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1016\/j.nmd.2005.08.001","article-title":"Novel EGR2 Mutation R359Q Is Associated with CMT Type 1 and Progressive Scoliosis","volume":"15","author":"Rautenstrauss","year":"2005","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1111\/j.1529-8027.2012.00403.x","article-title":"A Novel EGR2 Mutation within a Family with a Mild Demyelinating Form of Charcot-Marie-Tooth Disease","volume":"17","author":"Shiga","year":"2012","journal-title":"J. Peripher. Nerv. Syst. JPNS"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1111\/jns.12314","article-title":"A Novel Family with Axonal Charcot-Marie-Tooth Disease Caused by a Mutation in the EGR2 Gene","volume":"24","author":"Tozza","year":"2019","journal-title":"J. Peripher. Nerv. Syst. JPNS"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1212\/WNL.54.8.1696","article-title":"Cranial Nerve Involvement in CMT Disease Type 1 Due to Early Growth Response 2 Gene Mutation","volume":"54","author":"Pareyson","year":"2000","journal-title":"Neurology"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1002\/mus.21663","article-title":"Adult Onset Charcot-Marie-Tooth Disease Type 1D with an Arg381Cys Mutation of EGR2","volume":"41","author":"Briani","year":"2010","journal-title":"Muscle Nerve"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s10048-012-0313-1","article-title":"Vincristine Exacerbates Asymptomatic Charcot-Marie-Tooth Disease with a Novel EGR2 Mutation","volume":"13","author":"Nakamura","year":"2012","journal-title":"Neurogenetics"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"19336","DOI":"10.1038\/s41598-019-55875-4","article-title":"A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)","volume":"9","author":"Grosz","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1212\/WNL.52.9.1827","article-title":"Novel Missense Mutation in the Early Growth Response 2 Gene Associated with Dejerine\u2013Sottas Syndrome Phenotype","volume":"52","author":"Timmerman","year":"1999","journal-title":"Neurology"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/S0896-6273(00)81184-8","article-title":"Peripheral Demyelination and Neuropathic Pain Behavior in Periaxin-Deficient Mice","volume":"26","author":"Gillespie","year":"2000","journal-title":"Neuron"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/386279a0","article-title":"GRIP: A Synaptic PDZ Domain-Containing Protein That Interacts with AMPA Receptors","volume":"386","author":"Dong","year":"1997","journal-title":"Nature"},{"key":"ref_137","first-page":"499","article-title":"Axons Regulate Schwann Cell Expression of the Major Myelin and NGF Receptor Genes","volume":"102","author":"Lemke","year":"1988","journal-title":"Dev. Camb. Engl."},{"key":"ref_138","doi-asserted-by":"crossref","unstructured":"Raasakka, A., Linxweiler, H., Brophy, P.J., Sherman, D.L., and Kursula, P. (2019). Direct Binding of the Flexible C-terminal Segment of Periaxin to \u03924 Integrin Suggests a Molecular Basis for CMT4F. Front. Mol. Neurosci., 12.","DOI":"10.3389\/fnmol.2019.00084"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"92","DOI":"10.3988\/jcn.2015.11.1.92","article-title":"Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family","volume":"11","author":"Choi","year":"2015","journal-title":"J. Clin. Neurol."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1212\/WNL.0b013e3181fd6314","article-title":"Four Novel Cases of Periaxin-Related Neuropathy and Review of the Literature","volume":"75","author":"Marchesi","year":"2010","journal-title":"Neurology"},{"key":"ref_141","first-page":"109","article-title":"Preclinical Evaluation of RNAi as a Treatment for Transthyretin-Mediated Amyloidosis","volume":"23","author":"Butler","year":"2016","journal-title":"Amyloid Int. J. Exp. Clin. Investig. Off. J. Int. Soc. Amyloidosis"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1007\/s10038-006-0408-3","article-title":"Periaxin Mutation in Japanese Patients with Charcot-Marie-Tooth Disease","volume":"51","author":"Otagiri","year":"2006","journal-title":"J. Hum. Genet."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1086\/318208","article-title":"Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy","volume":"68","author":"Boerkoel","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1007\/s10038-004-0162-3","article-title":"Periaxin Mutation Causes Early-Onset but Slow-Progressive Charcot-Marie-Tooth Disease","volume":"49","author":"Kijima","year":"2004","journal-title":"J. Hum. Genet."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1093\/hmg\/10.4.415","article-title":"A Mutation in Periaxin Is Responsible for CMT4F, an Autosomal Recessive Form of Charcot-Marie-Tooth Disease","volume":"10","author":"Guilbot","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1002\/ana.10213","article-title":"Periaxin Mutations Cause a Broad Spectrum of Demyelinating Neuropathies","volume":"51","author":"Takashima","year":"2002","journal-title":"Ann. Neurol."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"1976","DOI":"10.1002\/glia.22568","article-title":"Role of Connexin 32 Hemichannels in the Release of ATP from Peripheral Nerves","volume":"61","author":"Grandes","year":"2013","journal-title":"Glia"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/j.brainresbull.2007.09.007","article-title":"Perineuronal Satellite Cells in Mouse Spinal Ganglia Express the Gap Junction Protein Connexin43 throughout Life with Decline in Old Age","volume":"75","author":"Procacci","year":"2008","journal-title":"Brain Res. Bull."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"3186","DOI":"10.1523\/JNEUROSCI.5146-03.2004","article-title":"Connexin32-Containing Gap Junctions in Schwann Cells at the Internodal Zone of Partial Myelin Compaction and in Schmidt\u2013Lanterman Incisures","volume":"24","author":"Meier","year":"2004","journal-title":"J. Neurosci."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"ra73","DOI":"10.1126\/scisignal.2001128","article-title":"Nonsynaptic Communication through ATP Release from Volume-Activated Anion Channels in Axons","volume":"3","author":"Fields","year":"2010","journal-title":"Sci. Signal."},{"key":"ref_151","doi-asserted-by":"crossref","unstructured":"Yamasaki, R. (2023). Connexins Control Glial Inflammation in Various Neurological Diseases. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms242316879"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"2783","DOI":"10.1093\/hmg\/10.24.2783","article-title":"Human Connexin 32, a Gap Junction Protein Altered in the X-Linked Form of Charcot-Marie-Tooth Disease, Is Directly Regulated by the Transcription Factor SOX10","volume":"10","author":"Bondurand","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1093\/hmg\/3.2.355","article-title":"Point Mutations of the Connexin32 (GJB1) Gene in X-Linked Dominant Charcot-Marie-Tooth Neuropathy","volume":"3","author":"Ionasescu","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1016\/0896-6273(94)90063-9","article-title":"Null Mutations of Connexin32 in Patients with X-Linked Charcot-Marie-Tooth Disease","volume":"13","author":"Bruzzone","year":"1994","journal-title":"Neuron"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1212\/WNL.45.10.1863","article-title":"New Connexin32 Mutations Associated with X-Linked Charcot-Marie-Tooth Disease","volume":"45","author":"Bone","year":"1995","journal-title":"Neurology"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"4063","DOI":"10.1523\/JNEUROSCI.18-11-04063.1998","article-title":"Connexin32 Mutations Associated with X-Linked Charcot\u2013Marie\u2013Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties","volume":"18","author":"Ressot","year":"1998","journal-title":"J. Neurosci."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"3193","DOI":"10.1093\/brain\/awv240","article-title":"Targeting the Colony Stimulating Factor 1 Receptor Alleviates Two Forms of Charcot-Marie-Tooth Disease in Mice","volume":"138","author":"Klein","year":"2015","journal-title":"Brain J. Neurol."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1002\/ana.24265","article-title":"Sequencing of Charcot\u2013Marie\u2013Tooth Disease Genes in a Toxic Polyneuropathy","volume":"76","author":"Beutler","year":"2014","journal-title":"Ann. Neurol."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/S0092-8674(01)00363-4","article-title":"Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bbeta","volume":"105","author":"Zhao","year":"2001","journal-title":"Cell"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1086\/367847","article-title":"Mutations in the Small GTP-Ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy","volume":"72","author":"Verhoeven","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1086\/375039","article-title":"Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V","volume":"72","author":"Antonellis","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng796","article-title":"Ganglioside-Induced Differentiation-Associated Protein-1 Is Mutant in Charcot-Marie-Tooth Disease Type 4A\/8q21","volume":"30","author":"Baxter","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.nmd.2004.01.003","article-title":"Vocal Cord and Diaphragm Paralysis, as Clinical Features of a French Family with Autosomal Recessive Charcot-Marie-Tooth Disease, Associated with a New Mutation in the GDAP1 Gene","volume":"14","author":"Stojkovic","year":"2004","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.1093\/hmg\/ddx216","article-title":"Mitochondrial Deficits and Abnormal Mitochondrial Retrograde Axonal Transport Play a Role in the Pathogenesis of Mutant Hsp27-Induced Charcot Marie Tooth Disease","volume":"26","author":"Kalmar","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/ng1328","article-title":"Hot-Spot Residue in Small Heat-Shock Protein 22 Causes Distal Motor Neuropathy","volume":"36","author":"Irobi","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"205","DOI":"10.2174\/1389203013381107","article-title":"Chaperone-like Activity of Alpha-Crystallin and Other Small Heat Shock Proteins","volume":"2","author":"Ganea","year":"2001","journal-title":"Curr. Protein Pept. Sci."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1111\/j.1600-0404.1997.tb00271.x","article-title":"Neurophysiological Classification and Sensitivity in 500 Carpal Tunnel Syndrome Hands","volume":"96","author":"Padua","year":"1997","journal-title":"Acta Neurol. Scand."},{"key":"ref_168","doi-asserted-by":"crossref","unstructured":"Miniou, P., and Fontes, M. (2021). Therapeutic Development in Charcot Marie Tooth Type 1 Disease. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22136755"},{"key":"ref_169","doi-asserted-by":"crossref","unstructured":"Dong, H., Qin, B., Zhang, H., Lei, L., and Wu, S. (2024). Current Treatment Methods for Charcot-Marie-Tooth Diseases. Biomolecules, 14.","DOI":"10.3390\/biom14091138"},{"key":"ref_170","first-page":"100","article-title":"Treating PMP22 Gene Duplication-Related Charcot-Marie-Tooth Disease: The Past, the Present and the Future","volume":"227","author":"Boutary","year":"2021","journal-title":"Transl. Res. J. Lab. Clin. Med."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1385\/JMN:28:1:65","article-title":"Neuroactive Steroids: A Therapeutic Approach to Maintain Peripheral Nerve Integrity during Neurodegenerative Events","volume":"28","author":"Leonelli","year":"2006","journal-title":"J. Mol. Neurosci. MN"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"23171","DOI":"10.1074\/jbc.M610896200","article-title":"Opioid Receptor Pharmacological Chaperones Act by Binding and Stabilizing Newly Synthesized Receptors in the Endoplasmic Reticulum","volume":"282","author":"Markkanen","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.abb.2009.09.007","article-title":"Role of Naturally Occurring Osmolytes in Protein Folding and Stability","volume":"491","author":"Kumar","year":"2009","journal-title":"Arch. Biochem. Biophys."},{"key":"ref_174","doi-asserted-by":"crossref","unstructured":"Prukop, T., Stenzel, J., Wernick, S., Kungl, T., Mroczek, M., Adam, J., Ewers, D., Nabirotchkin, S., Nave, K.-A., and Hajj, R. (2019). Early Short-Term PXT3003 Combinational Therapy Delays Disease Onset in a Transgenic Rat Model of Charcot-Marie-Tooth Disease 1A (CMT1A). PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0209752"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1186\/s13023-021-02040-8","article-title":"A Double-Blind, Placebo-Controlled, Randomized Trial of PXT3003 for the Treatment of Charcot-Marie-Tooth Type 1A","volume":"16","author":"Attarian","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1080\/14737175.2025.2470980","article-title":"Charcot-Marie-Tooth Disease: A Review of Clinical Developments and Its Management\u2014What\u2019s New in 2025?","volume":"25","author":"Serio","year":"2025","journal-title":"Expert Rev. Neurother."},{"key":"ref_177","doi-asserted-by":"crossref","unstructured":"Morena, J., Gupta, A., and Hoyle, J.C. (2019). Charcot-Marie-Tooth: From Molecules to Therapy. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20143419"},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.4103\/1673-5374.361538","article-title":"CMT1A Current Gene Therapy Approaches and Promising Biomarkers","volume":"18","author":"Stavrou","year":"2023","journal-title":"Neural Regen. Res."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"2356","DOI":"10.1038\/s41467-021-22593-3","article-title":"AAV2\/9-Mediated Silencing of PMP22 Prevents the Development of Pathological Features in a Rat Model of Charcot-Marie-Tooth Disease 1 A","volume":"12","author":"Gautier","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"e159814","DOI":"10.1172\/JCI159814","article-title":"A Translatable RNAi-Driven Gene Therapy Silences PMP22\/Pmp22 Genes and Improves Neuropathy in CMT1A Mice","volume":"132","author":"Stavrou","year":"2022","journal-title":"J. Clin. Investig."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/jns.12543","article-title":"Charcot\u2013Marie\u2013Tooth Neuropathies: Current Gene Therapy Advances and the Route toward Translation","volume":"28","author":"Stavrou","year":"2023","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.1038\/s41591-021-01522-3","article-title":"Toxicity after AAV Delivery of RNAi Expression Constructs into Nonhuman Primate Brain","volume":"27","author":"Keiser","year":"2021","journal-title":"Nat. Med."},{"key":"ref_183","first-page":"130","article-title":"Targeted PMP22 TATA-Box Editing by CRISPR\/Cas9 Reduces Demyelinating Neuropathy of Charcot-Marie-Tooth Disease Type 1A in Mice","volume":"48","author":"Lee","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"120392","DOI":"10.1016\/j.ijpharm.2021.120392","article-title":"Automated High-Throughput Preparation and Characterization of Oligonucleotide-Loaded Lipid Nanoparticles","volume":"599","author":"Fan","year":"2021","journal-title":"Int. J. Pharm."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1172\/JCI96499","article-title":"PMP22 Antisense Oligonucleotides Reverse Charcot-Marie-Tooth Disease Type 1A Features in Rodent Models","volume":"128","author":"Zhao","year":"2018","journal-title":"J. Clin. Investig."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1172\/JCI98617","article-title":"Antisense Oligonucleotides Offer Hope to Patients with Charcot-Marie-Tooth Disease Type 1A","volume":"128","author":"Shy","year":"2018","journal-title":"J. Clin. Investig."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.tips.2019.10.009","article-title":"Oligonucleotides to the (Gene) Rescue: FDA Approvals 2017\u20132019","volume":"41","author":"Ioannou","year":"2020","journal-title":"Trends Pharmacol. Sci."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1021\/acs.molpharmaceut.0c01238","article-title":"Advances in the Design of (Nano)Formulations for Delivery of Antisense Oligonucleotides and Small Interfering RNA: Focus on the Central Nervous System","volume":"18","author":"Kont","year":"2021","journal-title":"Mol. Pharm."},{"key":"ref_189","first-page":"1434","article-title":"A SARM1-Mitochondrial Feedback Loop Drives Neuropathogenesis in a Charcot-Marie-Tooth Disease Type 2A Rat Model","volume":"132","author":"Strickland","year":"2022","journal-title":"J. Clin. Investig."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"106467","DOI":"10.1016\/j.nbd.2024.106467","article-title":"Charcot-Marie-Tooth Disease Type 2A: An Update on Pathogenesis and Therapeutic Perspectives","volume":"193","author":"Alberti","year":"2024","journal-title":"Neurobiol. Dis."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1111\/j.1440-1746.2010.06549.x","article-title":"Hepatocyte Growth Factor Twenty Years on: Much More than a Growth Factor","volume":"26","author":"Nakamura","year":"2011","journal-title":"J. Gastroenterol. Hepatol."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1111\/cts.12977","article-title":"Gene Therapy for Diabetic Peripheral Neuropathy: A Randomized, Placebo-Controlled Phase III Study of VM202, a Plasmid DNA Encoding Human Hepatocyte Growth Factor","volume":"14","author":"Kessler","year":"2021","journal-title":"Clin. Transl. Sci."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.omtn.2018.06.013","article-title":"Hepatocyte Growth Factor Regulates the miR-206-HDAC4 Cascade to Control Neurogenic Muscle Atrophy Following Surgical Denervation in Mice","volume":"12","author":"Choi","year":"2018","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_194","doi-asserted-by":"crossref","unstructured":"Kwon, H., Kim, H.S., Chi, S.A., Nam, S.H., Kim, H.J., Kim, S.B., and Choi, B.-O. (2024). A Phase 1\/2a, Open Label Study to Evaluate the Safety and Efficacy of a Plasmid DNA Encoding Human Hepatocyte Growth Factor in Patients with Charcot-Marie-Tooth Disease 1A, Research Square.","DOI":"10.21203\/rs.3.rs-4220356\/v1"},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"146533","DOI":"10.1016\/j.brainres.2019.146533","article-title":"Gene Therapy to Promote Regeneration in Charcot-Marie-Tooth Disease","volume":"1727","author":"Sahenk","year":"2020","journal-title":"Brain Res."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/s41434-021-00231-3","article-title":"AAV1.NT-3 Gene Therapy for X-Linked Charcot-Marie-Tooth Neuropathy Type 1","volume":"29","author":"Ozes","year":"2022","journal-title":"Gene Ther."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"fcae394","DOI":"10.1093\/braincomms\/fcae394","article-title":"AAV1.tMCK.NT-3 Gene Therapy Improves Phenotype in Sh3tc2\u2212\/\u2212 Mouse Model of Charcot\u2013Marie\u2013Tooth Type 4C","volume":"6","author":"Ozes","year":"2024","journal-title":"Brain Commun."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.4103\/1673-5374.389634","article-title":"Targeting Muscle to Treat Charcot-Marie-Tooth Disease","volume":"19","author":"Sleigh","year":"2024","journal-title":"Neural Regen. Res."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"fcab252","DOI":"10.1093\/braincomms\/fcab252","article-title":"AAV1.NT-3 Gene Therapy in a CMT2D Model: Phenotypic Improvements in GarsP278KY\/+ Mice","volume":"3","author":"Ozes","year":"2021","journal-title":"Brain Commun."},{"key":"ref_200","doi-asserted-by":"crossref","unstructured":"Chen, S.-D., Wu, C.-L., Hwang, W.-C., and Yang, D.-I. (2017). More Insight into BDNF against Neurodegeneration: Anti-Apoptosis, Anti-Oxidation, and Suppression of Autophagy. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18030545"},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"109","DOI":"10.2147\/TCRM.S219979","article-title":"Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care","volume":"16","author":"Luigetti","year":"2020","journal-title":"Ther. Clin. Risk Manag."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1056\/NEJMoa2300757","article-title":"Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis","volume":"389","author":"Maurer","year":"2023","journal-title":"N. Engl. J. Med."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s40120-020-00208-1","article-title":"A Review of Patisiran (ONPATTRO\u00ae) for the Treatment of Polyneuropathy in People with Hereditary Transthyretin Amyloidosis","volume":"9","author":"Urits","year":"2020","journal-title":"Neurol. Ther."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1182\/blood.2023019884","article-title":"Hereditary Transthyretin Amyloidosis in the Era of RNA Interference, Antisense Oligonucleotide, and CRISPR-Cas9 Treatments","volume":"142","author":"Adams","year":"2023","journal-title":"Blood"},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1056\/NEJMoa2107454","article-title":"CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis","volume":"385","author":"Gillmore","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s40265-024-02008-5","article-title":"Eplontersen: First Approval","volume":"84","author":"Nie","year":"2024","journal-title":"Drugs"},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"102066","DOI":"10.1016\/j.jacadv.2025.102066","article-title":"Vutrisiran in Transthyretin Amyloidosis","volume":"4","author":"Witteles","year":"2025","journal-title":"JACC Adv."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"477","DOI":"10.3233\/JND-200523","article-title":"Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)","volume":"7","author":"Savarese","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/s41392-024-01780-w","article-title":"Adeno-Associated Virus as a Delivery Vector for Gene Therapy of Human Diseases","volume":"9","author":"Wang","year":"2024","journal-title":"Signal Transduct. Target. Ther."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1038\/s12276-024-01250-x","article-title":"Advances and Challenges in Modeling Inherited Peripheral Neuropathies Using iPSCs","volume":"56","author":"Prior","year":"2024","journal-title":"Exp. Mol. Med."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/1\/56\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T13:50:58Z","timestamp":1767621058000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/1\/56"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,3]]},"references-count":210,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["genes17010056"],"URL":"https:\/\/doi.org\/10.3390\/genes17010056","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,3]]}}}