Associated Papers
Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.
Nozaki I et al.
Internal Medicine (tokyo, Japan), 2023
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases.
Liu YT et al.
Journal of Neurogenetics, 2015
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
Caramins M et al.
Human Molecular Genetics, 2013
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