JAMES LUPSKI to Myelin P0 Protein
This is a "connection" page, showing publications JAMES LUPSKI has written about Myelin P0 Protein.
Connection Strength
1.355
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Balancing between adaptive and maladaptive cellular stress responses in peripheral neuropathy. Neuron. 2008 Feb 07; 57(3):329-30.
Score: 0.283
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Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet. 2005 Nov; 77(5):841-50.
Score: 0.241
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Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep; 54(3):398-402.
Score: 0.208
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Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case. Hum Mutat. 1997; 10(1):21-4.
Score: 0.131
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Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 1996 Sep; 17(3):451-60.
Score: 0.128
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Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat. 1996; 7(1):36-45.
Score: 0.123
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A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. PLoS One. 2010 Dec 16; 5(12):e14346.
Score: 0.086
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Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol. 2002 Feb; 51(2):190-201.
Score: 0.047
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Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine (Baltimore). 1996 Sep; 75(5):233-50.
Score: 0.032
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 05; 18(5):443-51.
Score: 0.030
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Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994 Apr; 10(4):128-33.
Score: 0.027
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Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol. 1999 Mar; 20(3):226-32.
Score: 0.010
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Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet. 1996; 4(6):329-33.
Score: 0.008