Detalhe da pesquisa
1.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Am J Hum Genet
; 100(3): 488-505, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257691
2.
Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.
Ann Neurol
; 86(5): 643-652, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397917
3.
A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
Cerebellum
; 13(3): 331-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24272953
4.
Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach.
J Neurol
; 271(6): 3439-3454, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520521
5.
Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.
Cerebellum
; 12(2): 155-61, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22872568
6.
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.
Am J Med Genet A
; 152A(5): 1273-7, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425835
7.
Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.
Am J Med Genet A
; 149A(7): 1365-74, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19514047
8.
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
J Neurol
; 266(8): 1953-1959, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31076878
9.
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.
J Mol Neurosci
; 31(3): 273-9, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17726231
10.
Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism.
Neuropsychiatr Dis Treat
; 12: 2367-2372, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27695335
11.
Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.
Neuro Endocrinol Lett
; 26(1): 71-4, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15726025
12.
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
PLoS One
; 8(12): e82549, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24349310
13.
Myotonic dystrophy type 2 and multiple sclerosis: case report.
Clin Neurol Neurosurg
; 114(10): 1358-60, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22502787
14.
A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.
Biochem Biophys Res Commun
; 347(1): 145-9, 2006 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-16808900