A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-1331.2008.02104.x/fullpdf
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1. THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II
2. Classification of the hereditary motor and sensory neuropathies
3. Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene
4. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
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1. Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review;Frontiers in Neurology;2023-07-04
2. A 71‐nucleotide deletion in the periaxin gene in an Italian patient with late‐onset slowly progressive demyelinating Charcot‐Marie‐Tooth disease;European Journal of Neurology;2020-09-15
3. Proteome profile of peripheral myelin in healthy mice and in a neuropathy model;eLife;2020-03-04
4. Flexible Players within the Sheaths: The Intrinsically Disordered Proteins of Myelin in Health and Disease;Cells;2020-02-18
5. Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F;Journal of International Medical Research;2019-08-20
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