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Genetic Spectrum Of Hereditary Neuropathies With Onset In The First Year Of Life
(2011)
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in ...
Novel Mutations In Genes Causing Hereditary Spastic Paraplegia And Charcot-Marie-Tooth Neuropathy Identified By An Optimized Protocol For Homozygosity Mapping Based On Whole-Exome Sequencing
(Nature Publishing Group, 2016)
Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation ...
Unraveling The Genetic Landscape Of Autosomal Recessive Charcot-Marie-Tooth Neuropathies Using A Homozygosity Mapping Approach
(Springer, 2015)
Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical ...