Detalhe da pesquisa
1.
Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.
J Neurogenet
; 25(4): 182-8, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22091729
2.
Hallucinations and delusions are frequently reported in individuals with Dravet syndrome.
Epilepsy Behav
; 52(Pt A): 222-4, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26469797
3.
A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT.
Eur J Neurol
; 15(6): 548-51, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18410371
4.
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene.
Neuromuscul Disord
; 26(9): 598-603, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27469267
5.
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
Neuromuscul Disord
; 15(11): 764-7, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16198564
6.
Clinical and morphological phenotype of HMSN 1A mosaicism.
Neuromuscul Disord
; 7(1): 27-31, 1997 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-9132137
7.
The peripheral myelin protein 22 kDa (PMP22) gene is amplified in cell lines derived from glioma and osteogenic sarcoma.
Int J Oncol
; 10(5): 915-9, 1997 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21533463
8.
PMP22 Thr118Met is not a clinically relevant CMT1 marker.
J Neurol
; 247(9): 696-700, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-11081809
9.
A polymorphic locus in the intron 16 of the human angiotensin-converting enzyme (ACE) gene is not correlated with complex regional pain syndrome I (CRPS I).
Eur J Pain
; 8(3): 221-5, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15109972
10.
Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines.
Int J Mol Med
; 7(6): 669-75, 2001 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11351283
11.
Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.
Int J Mol Med
; 1(2): 495-501, 1998 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-9852256
12.
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.
Int J Mol Med
; 6(4): 421-6, 2000 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-10998431
13.
Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.
Int J Mol Med
; 1(2): 333-7, 1998 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-9852234
14.
A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma.
J Glaucoma
; 8(2): 154-6, 1999 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-10209734
15.
Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.
J Glaucoma
; 10(4): 354-7, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11558822
16.
Rapid fluorescence in situ detection of heterologous expression in E. coli and counterstaining with diamidinophenylindol.
Trends Genet
; 11(4): 129, 1995 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-7732589
17.
FISH analysis of interphase nuclei extracted from paraffin-embedded tissue.
Trends Genet
; 11(10): 377-8, 1995 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-7482758
18.
A rapid method for FISH analysis on interphase nuclei extracted from cryofixed tissues.
Trends Genet
; 12(12): 505-6, 1996 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-9257531
19.
A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.
J Neurol Sci
; 300(1-2): 160-3, 2011 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21035146
20.
Severe Myoclonic Epilepsy in Infancy - Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases.
Mol Syndromol
; 1(5): 231-238, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140375