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A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT.
- Published in:
- European Journal of Neurology, 2008, v. 15, n. 6, p. 548, doi. 10.1111/j.1468-1331.2008.02104.x
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- Article
PMP22 Thr118Met is not a clinically relevant CMT1 marker.
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- Journal of Neurology, 2000, v. 247, n. 9, p. 696, doi. 10.1007/s004150070113
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- Article
Charcot-Marie-Tooth 1A: Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 485, doi. 10.1111/j.1749-6632.1999.tb08617.x
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- Article
Hereditäre Optikusatrophien.
- Published in:
- Medizinische Genetik, 2014, v. 26, n. 1, p. 11, doi. 10.1007/s11825-014-0435-y
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- Article
A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.
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- 2012
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- Journal Article
Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1.
- Published in:
- Acta Neuropathologica, 1997, v. 94, n. 5, p. 514, doi. 10.1007/s004010050742
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- Article
Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations.
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- Acta Neuropathologica, 1997, v. 94, n. 3, p. 266, doi. 10.1007/s004010050702
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- Publication type:
- Article
Widespread expression of the peripheral myelin protein-22 gene ( pmp22) in neural and non-neural tissues during murine development.
- Published in:
- Journal of Neuroscience Research, 1995, v. 42, n. 6, p. 733, doi. 10.1002/jnr.490420602
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- Publication type:
- Article