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Application of optical coherence tomography in neurodegenerative diseases: a focus on Parkinson’s, Alzheimer’s, and Schizophrenia in Bulgarian patients

Biotechnology, biotechnological equipment, 2024-12, Vol.38 (1)

2024

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Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

American journal of human genetics, 2009-05, Vol.84 (5), p.664-671

2009

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Leber's hereditary optic neuropathy: clinical and genetic analysis of Bulgarian patients

Biotechnology, biotechnological equipment, 2023-09, Vol.37 (1)

2023

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Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria

Frontiers in neurology, 2022-04, Vol.13, p.844595-844595

2022

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Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay

Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2483-n/a

2024

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Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies

Molecular genetics & genomic medicine, 2022-08, Vol.10 (8), p.e1997-n/a

2022

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LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.326-333

2011

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Amblyopia screening in Bulgaria

Journal of pediatric ophthalmology and strabismus, 2014-09, Vol.51 (5), p.284-288

2014

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Erratum to “Identification of Novel Nonsense RPGR Variant Causing Mild X-Linked Cone-Rod Dystrophy and Myopia” [Case Reports in Clinical Medicine Volume 11 (2022) 422-434]

Case reports in clinical medicine, 2024, Vol.13 (3), p.85-86

2024

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Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Annals of neurology, 2006-02, Vol.59 (2), p.276-281

2006

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

American journal of human genetics, 2012-09, Vol.91 (3), p.553-564

2012

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Identification of Novel Nonsense RPGR Variant Causing Mild X-Linked Cone-Rod Dystrophy and Myopia

Case reports in clinical medicine, 2022, Vol.11 (10), p.422-434

2022

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Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

Journal of neuromuscular diseases, 2024, Vol.11 (5), p.1011-1020

2024

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Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C

European neurology, 2016-01, Vol.75 (3-4), p.113-123

2016

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

Journal of neurogenetics, 2013-06, Vol.27 (1-2), p.19-22

2013

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A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q

European journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.338-342

2013

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

American journal of human genetics, 2012-09, Vol.91 (3), p.5536

2012

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Four-dimensional ultrasound imaging in neuro-ophthalmology

Perspectives in medicine, 2012-09, Vol.1 (1-12), p.86-88

2012

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Exome sequencing in roma families identifies tandem GRM1 mutations in a novel form of congenital cerebellar ataxia

Pathology, 2013, Vol.45, p.S92-S93

2013

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Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families

Molecular vision, 2006-08, Vol.12, p.909-914

2006

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Cortical blindness associated with bilateral posterior ischemic optic neuropathy after generalized cerebral hypoxia

Neuro-ophthalmology (Amsterdam : Aeolus Press. 1980), 2002-01, Vol.27 (1-3), p.103-109

2002

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Neuro-ophthalmologic symptomatology in 246 patients with orbital space-occupying processes

Neuro-ophthalmology (Amsterdam : Aeolus Press. 1980), 2002-02, Vol.27 (1-3), p.45-54

2002

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

Journal of Neurogenetics, 2013, Vol.27 (1-2), p.19-22

2013

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Application of optical coherence tomography in neurodegenerative diseases: a focus on Parkinson’s, Alzheimer’s, and Schizophrenia in Bulgarian patients

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Leber's hereditary optic neuropathy: clinical and genetic analysis of Bulgarian patients

Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay

Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

Amblyopia screening in Bulgaria

Erratum to “Identification of Novel Nonsense RPGR Variant Causing Mild X-Linked Cone-Rod Dystrophy and Myopia” [Case Reports in Clinical Medicine Volume 11 (2022) 422-434]

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

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

Identification of Novel Nonsense RPGR Variant Causing Mild X-Linked Cone-Rod Dystrophy and Myopia

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C

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

A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q

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

Four-dimensional ultrasound imaging in neuro-ophthalmology

Exome sequencing in roma families identifies tandem GRM1 mutations in a novel form of congenital cerebellar ataxia

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families

Cortical blindness associated with bilateral posterior ischemic optic neuropathy after generalized cerebral hypoxia

Neuro-ophthalmologic symptomatology in 246 patients with orbital space-occupying processes

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

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