Connection | Profiles RNS

Search Result Details

Back to Search Results

This page shows the details of why an item matched the keywords from your search.

Search Results

SCHERER, STEVEN

One or more keywords matched the following items that are connected to SCHERER, STEVEN

Item Type	Name
Academic Article	T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Academic Article	Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Concept	Charcot-Marie-Tooth Disease
Academic Article	Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.
Academic Article	Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.
Academic Article	A novel AARS mutation in a family with dominant myeloneuropathy.
Academic Article	Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Academic Article	De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Academic Article	Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Academic Article	Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
Academic Article	Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Academic Article	Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Academic Article	Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Academic Article	Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
Academic Article	A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Academic Article	A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
Academic Article	Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Academic Article	Optic Neuropathy in Charcot-Marie-Tooth Disease.
Academic Article	Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.
Academic Article	Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.
Academic Article	Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system.
Academic Article	Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Academic Article	Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Search Criteria

Charcot Marie Tooth Disease