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Sylvia Cherninkova

University of Western Australia

17

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408

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Leber’s Hereditary Optic Neuropathy in Bulgarian Patients

2020
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Amblyopia Screening in Bulgaria

2014 Journal of Pediatric Ophthalmology & Strabismus
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Exome sequencing in roma families identifies tandem GRM1 mutations in a novel form of congenital cerebellar ataxia

2013 Pathology
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Possible Toxicity of Tuberculostatic Agents in a Patient With a Novel TYMP Mutation Leading to Mitochondrial Neurogastrointestinal Encephalomyopathy

2013 Journal of Neurogenetics
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Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathy

2013 Journal of the Neurological Sciences
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Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease.

2012 The Neurologist
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Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

2012 American Journal of Human Genetics
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LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

2011 European Journal of Human Genetics
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A novel locus for autosomal dominant cone-rod dystrophy in a family of gypsy origin

2011
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Severe neuropsychiatric symptoms in two siblings with intermediate type of Niemann-Pick disease.

2008 Journal of Neurology
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