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1.
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
Muscle Nerve
; 44(5): 819-22, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22006697
2.
Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients.
Genet Test
; 10(3): 215-20, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-17020474
3.
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.
Orphanet J Rare Dis
; 9: 46, 2014 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24690360
4.
Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
J Child Neurol
; 29(7): 924-31, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23771846
5.
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
Mol Med Rep
; 8(6): 1779-84, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24126688
6.
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.
Genet Test Mol Biomarkers
; 14(1): 3-7, 2010 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-20039784
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