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SH3TC2
Inherited Neuropathies
Lupo Et Al. Vincenzo Lupo , Máximo I
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C
Impacts of Massively Parallel Sequencing for Genetic Diagnosis of Neuromuscular Disorders
Genomic Diagnostics Within a Medically Underserved Population: Efficacy and Implications
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Demyelinating Prenatal and Infantile Developmental Neuropathies
Pathogenic Alleles, Clan Genomics and the Complex Architecture of Human Disease
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Genetic Testing for Diagnosis of Inherited Peripheral Neuropathies
Exome Sequencing Resolves Apparent Incidental Findings and Reveals Further Complexity of SH3TC2 Variant Alleles Causing Charcot
SH3TC2, a Protein Mutant in Charcot–Marie–Tooth Neuropathy, Links Peripheral Nerve Myelination to Endosomal Recycling
A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: a Simple System for Complex, Heterogeneous Diseases
Exclusive Expression of the Rab11 Effector SH3TC2 in Schwann Cells Links Integrin-Α6 and Myelin Maintenance to Charcot-Marie-Tooth Disease Type 4C
A Mediation Approach to Discovering Causal Relationships Between the Metabolome and DNA Methylation in Type 1 Diabetes
Mutations in COMP Cause Familial Carpal Tunnel Syndrome
First Reported Case of Charcot Marie Tooth Disease Type 4C in a Child from India with SH3TC2 Mutation but Absent Spinal Deformities
Targeted Next-Generation Sequencing Panels in the Diagnosis of Charcot-Marie-Tooth Disease
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Poster Session I – Sunday, 23 June - 12.30-14.30
Exploring Biomarkers Related to Autophagy in Alzheimer's Disease Based on Pathway Crosstalk Analysis
SH3TC2/KIAA1985 Protein Is Required for Proper Myelination and the Integrity of the Node of Ranvier in the Peripheral Nervous System
Overlapping Molecular Pathological Themes Link Charcot–Marie–Tooth Neuropathies and Hereditary Spastic Paraplegias
Corporate Medical Policy Template
Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies