...PMP22) and connexin 32 (GJB1); the motor nerve conduction velocity (MNCV) at the median nerve was below 38 m/s in 76 cas...
...PMP22, connexin32, MPZ, LITAF and MFNZ genes, as well as duplication and deletion of PMP22.,The twins were employed in P...
...PMP22) on chromosome 17p11.2. The authors present a family case with genetically proven HNPP.
...PMP22/EMP/Claudin family of proteins. We found that TM4SF10 localizes at the basal-most region of podocyte precursors be...
...PMP22, sciatic nerves and dorsal root ganglion (DRG) neuron explant cultures from PMP22-deficient mice were studied at v...
...PMP22 mice, a model of human motor and sensory neuropathy type 1A (HMSN1A).,Single extensor digitorum longus muscle fibr...
...PMP22) gene. Mice expressing seven copies of the human PMP22, termed C22, suffer from a demyelinating neuropathy and dis...
...PMP22, MPZ, LITAF/SIMPLE, EGR2 (CMT1A to D), and GJB1 (CMTX). Here, we report clinical, electrophysiological and molecul...
...PMP22s are retained in the cell, prior to reaching the medial Golgi compartment. Similar to Wt-PMP22, both frameshift mu...
...PMP22, but not MBP and MOBP, was reduced in the hippocampus and anterior cingulate cortex but not in the putamen of pati...
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