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Last Updated: 10/31/2025

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Found 5285 publications

A case of adult-onset Krabbe disease diagnosed by galactocerebrosidase gene mutations, presenting with an atypical phenotype

A case of adult-onset Krabbe disease diagnosed by galactocerebrosidase gene mutations, presenting with an atypical phenotype

Journal: Rinsho shinkeigaku = Clinical neurology
Published: October 19, 2025

A systematic review of CRISPR applications in demyelinating peripheral nervous system disorders.

A systematic review of CRISPR applications in demyelinating peripheral nervous system disorders.

Journal: Regenerative medicine
Published: October 18, 2025

Statistical Shape Modeling Characterization of Cavovarus Deformity Between Demyelinating and Axonal Subtypes of Charcot-Marie-Tooth Disease.

Statistical Shape Modeling Characterization of Cavovarus Deformity Between Demyelinating and Axonal Subtypes of Charcot-Marie-Tooth Disease.

Journal: Foot & ankle international
Published: October 15, 2025

Guillain-Barré Syndrome With Asymmetrical Weakness in a Patient With Charcot-Marie-Tooth Disease Type 1A.

Guillain-Barré Syndrome With Asymmetrical Weakness in a Patient With Charcot-Marie-Tooth Disease Type 1A.

Journal: Cureus
Published: October 14, 2025

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Journal: The Journal of clinical investigation
Published: October 14, 2025

A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy

A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy

Journal: Rinsho shinkeigaku = Clinical neurology
Published: September 28, 2025

Charcot-Marie-Tooth Disease With Severe Hand Contractures and Respiratory Failure Requiring Long-Term Ventilator Support: A Case Report.

Charcot-Marie-Tooth Disease With Severe Hand Contractures and Respiratory Failure Requiring Long-Term Ventilator Support: A Case Report.

Journal: Cureus
Published: September 16, 2025

Advances and Clues of Nutritional Adjuvant Therapy for Charcot-Marie-Tooth Disease.

Advances and Clues of Nutritional Adjuvant Therapy for Charcot-Marie-Tooth Disease.

Journal: The Journal of nutrition
Published: September 15, 2025

Replating induces mTOR-dependent rescue of protein synthesis in Charcot-Marie-Tooth diseased neurons.

Replating induces mTOR-dependent rescue of protein synthesis in Charcot-Marie-Tooth diseased neurons.

Journal: bioRxiv : the preprint server for biology
Published: September 05, 2025

A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.

A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.

Journal: Journal of clinical neuromuscular disease
Published: September 03, 2025

Anaesthetic management using remimazolam in a patient with Charcot-Marie-Tooth disease complicated by sarcoidosis.

Anaesthetic management using remimazolam in a patient with Charcot-Marie-Tooth disease complicated by sarcoidosis.

Journal: BMJ case reports
Published: August 31, 2025

Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter.

Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter.

Journal: The American journal of case reports
Published: August 25, 2025
Showing 1-12 of 5,285

Last Updated: 10/31/2025