Pages that link to "Q37300262"

The following pages link to Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy (Q37300262):

Displaying 25 items.

• Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. (Q30413900) (← links)
• Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies (Q30495788) (← links)
• Thrombotic Thrombocytopenic Purpura with Severe ADAMTS-13 Deficiency in a Patient with Antiphospholipid Antibodies and Charcot-Marie-Tooth Disease (Q33394378) (← links)
• Congenital neutropenia: diagnosis, molecular bases and patient management (Q33395402) (← links)
• Dynamin 2-dependent endocytosis is required for normal megakaryocyte development in mice (Q33419130) (← links)
• Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. (Q34077939) (← links)
• Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2. (Q35827579) (← links)
• Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort (Q36676080) (← links)
• Dynamin 2 and human diseases. (Q37686342) (← links)
• Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2. (Q37843794) (← links)
• Dynamin-2 in nervous system disorders. (Q38150395) (← links)
• Intermediate Charcot-Marie-Tooth disease (Q38261167) (← links)
• Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy. (Q38309247) (← links)
• Towards a functional pathology of hereditary neuropathies (Q39023144) (← links)
• Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review (Q39212369) (← links)
• Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy (Q41004180) (← links)
• Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation (Q41527731) (← links)
• [Genetics of neuropathies]. (Q44461854) (← links)
• Phenotype variability and histopathological findings in patients with a novel DNM2 mutation (Q47877413) (← links)
• Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy (Q57897234) (← links)
• Dynamins 2 and 3 control the migration of human megakaryocytes by regulating CXCR4 surface expression and ITGB1 activity (Q59789123) (← links)
• Schwann cells, but not Oligodendrocytes, Depend Strictly on Dynamin 2 Function (Q61447705) (← links)
• Mice carrying an analogous heterozygous Dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy (Q90026394) (← links)
• Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin (Q90271579) (← links)
• Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans (Q91955757) (← links)