Detalhe da pesquisa
1.
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
Eur Neurol
; 75(3-4): 113-23, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26910362
2.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Am J Hum Genet
; 91(3): 553-64, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22901947
3.
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Cell Rep Med
; 5(3): 101437, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428428
4.
Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathy.
J Neurogenet
; 27(1-2): 19-22, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23590577
5.
Null mutations in LTBP2 cause primary congenital glaucoma.
Am J Hum Genet
; 84(5): 664-71, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19361779
6.
Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.
Mol Genet Genomic Med
; 10(8): e1997, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35656873
7.
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.
Front Neurol
; 13: 844595, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35463150
8.
Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
Mol Vis
; 12: 909-14, 2006 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-16917484
9.
Amblyopia screening in Bulgaria.
J Pediatr Ophthalmol Strabismus
; 51(5): 284-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24971584
10.
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.
Eur J Hum Genet
; 21(3): 338-42, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22929024
11.
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Eur J Hum Genet
; 19(3): 326-33, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21081970
12.
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Ann Neurol
; 59(2): 276-81, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16437557