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Varicella zoster virus infection in neurological patients in Bulgaria.
- Published in:
- Journal of NeuroVirology, 2021, v. 27, n. 2, p. 272, doi. 10.1007/s13365-021-00952-6
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- Publication type:
- Article
Axonal neuropathy with neuromyotonia: there is a HINT.
- Published in:
- 2017
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- Publication type:
- journal article
Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.
- Published in:
- Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-022-01399-2
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- Publication type:
- Article
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
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- Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1679, doi. 10.1111/j.1528-1167.2009.02066.x
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- Publication type:
- Article
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2483
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- Publication type:
- Article
Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.
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- Cardiology & Therapy, 2024, v. 13, n. 1, p. 117, doi. 10.1007/s40119-023-00344-3
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- Publication type:
- Article
Phenotypic Differences of Glu89Gln Genotype in ATTR Amyloidosis From Endemic Loci: Update From THAOS.
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- Cardiology & Therapy, 2021, v. 10, n. 2, p. 481, doi. 10.1007/s40119-021-00226-6
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- Publication type:
- Article
Myologie et minorités ethniques.
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- Médecine Sciences, 2015, v. 31, p. 34, doi. 10.1051/medsci/201531s310
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- Publication type:
- Article
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
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- Nature Genetics, 2012, v. 44, n. 10, p. 1080, doi. 10.1038/ng.2406
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- Publication type:
- Article
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
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- Nature Genetics, 2006, v. 38, n. 2, p. 197, doi. 10.1038/ng1727
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- Publication type:
- Article
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
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- Nature Genetics, 2004, v. 36, n. 6, p. 597, doi. 10.1038/ng1328
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- Publication type:
- Article
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45099-0
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- Publication type:
- Article
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.844595
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- Publication type:
- Article
Determination of Tafamidis Plasma Concentrations in Amyloidosis Patients with Glu89Gln Mutation by HPLC-UV Detection.
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- Journal of Chromatographic Science, 2022, v. 60, n. 9, p. 840, doi. 10.1093/chromsci/bmab132
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- Publication type:
- Article
Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
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- 2019
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- Publication type:
- journal article
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 262, doi. 10.1007/s00439-004-1237-0
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- Publication type:
- Article
Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.
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- Behavioural Neurology, 2015, v. 2015, p. 1, doi. 10.1155/2015/639539
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- Publication type:
- Article
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12909-9
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- Publication type:
- Article
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 338, doi. 10.1038/ejhg.2012.158
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- Publication type:
- Article
A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR).
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- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1606, doi. 10.1038/ejhg.2009.99
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- Publication type:
- Article
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.
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- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 97, doi. 10.1038/sj.ejhg.5200597
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- Publication type:
- Article
Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03270-2
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- Publication type:
- Article
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02962-5
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- Publication type:
- Article
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 4, p. 1050
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- Publication type:
- Article
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1011, doi. 10.3233/JND-230235
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- Publication type:
- Article
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
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- Annals of Neurology, 2004, v. 55, n. 5, p. 713
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- Publication type:
- Article
Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.
- Published in:
- 2001
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- Publication type:
- journal article
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 3, p. 467, doi. 10.1007/s00415-015-7989-8
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- Publication type:
- Article
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 5, p. 906, doi. 10.1007/s00415-011-6276-6
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- Publication type:
- Article
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
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- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4302, doi. 10.1093/hmg/ddw263
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- Publication type:
- Article
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
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- European Neurology, 2016, v. 75, n. 3/4, p. 113, doi. 10.1159/000444480
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- Publication type:
- Article
Concomitant insulinoma and type 2 diabetes mellitus diagnoses: a case report.
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- Journal of Diabetes, 2016, v. 8, n. 5, p. 740, doi. 10.1111/1753-0407.12409
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- Publication type:
- Article
Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.
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- Journal of Gastrointestinal & Liver Diseases, 2019, v. 28, n. 4, p. 421, doi. 10.15403/jgld-362
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- Publication type:
- Article
Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report.
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- Journal of Gastrointestinal & Liver Diseases, 2019, v. 28, n. 3, p. 359, doi. 10.15403/jgld-422
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- Publication type:
- Article
Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies).
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- Journal of Child Neurology, 2006, v. 21, n. 1, p. 20, doi. 10.1177/08830738060210010401
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- Publication type:
- Article
CARDIAC INVOLVEMENT IN MUSCULAR DYSTROPHIES.
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- Advances in Bulgarian Science, 2019, p. 33
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- Publication type:
- Article
Novel Mutations in the DYNC1 H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies.
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- Human Mutation, 2015, v. 36, n. 3, p. 287, doi. 10.1002/humu.22744
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- Publication type:
- Article
Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS Cohort.
- Published in:
- Genes, 2024, v. 15, n. 9, p. 1197, doi. 10.3390/genes15091197
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- Publication type:
- Article
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
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- Genes, 2024, v. 15, n. 9, p. 1144, doi. 10.3390/genes15091144
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- Publication type:
- Article
Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 2023, doi. 10.3390/genes14112023
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- Publication type:
- Article
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations.
- Published in:
- Annals of Neurology, 1999, v. 45, n. 6, p. 742, doi. 10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.0.CO;2-N
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- Publication type:
- Article
Identification and Characterization of Novel Founder Mutations in NDRG1 : Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 9047, doi. 10.3390/ijms25169047
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- Publication type:
- Article
L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype.
- Published in:
- Neurogenetics, 2010, v. 11, n. 3, p. 357, doi. 10.1007/s10048-010-0237-6
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- Publication type:
- Article
A large deletion and novel point mutations in the calpain 3 gene ( CAPN3) in Bulgarian LGMD2A patients.
- Published in:
- Neurogenetics, 2007, v. 8, n. 3, p. 225, doi. 10.1007/s10048-007-0083-3
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- Publication type:
- Article
Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.
- Published in:
- 2016
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- Publication type:
- Letter
Reply: Mutations in TUBB4A and spastic paraplegia.
- Published in:
- 2015
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- Publication type:
- commentary
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
- Published in:
- Movement Disorders, 2015, v. 30, n. 6, p. 854, doi. 10.1002/mds.26196
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- Publication type:
- Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Publication type:
- Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Publication type:
- Article
C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian Gypsy population.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 479, doi. 10.1002/(SICI)1098-1004(200005)15:5<479::AID-HUMU10>3.0.CO;2-#
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- Publication type:
- Article