Search Results - "Pavicevic, D. Savic"
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Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location
Published in Balkan journal of medical genetics (01-12-2014)“…Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy during childhood. Mutations in dystrophin (DMD) gene are also recognized as a…”
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HD Phenocopies-Possible Role of Saitohin Gene
Published in International journal of neuroscience (01-03-2008)“…Saitohin (STH) is located in the intron of the human gene for microtubule-associated protein tau. Q7R polymorphism has been identified in the STH gene. Some…”
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Brain sonography insight into the midbrain and basal ganglia in myotonic dystrophy type 2
Published in Journal of the neurological sciences (15-10-2015)Get full text
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Genotype-phenotype correlation in Friedreich's ataxia
Published in European journal of paediatric neurology (01-06-2017)Get full text
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Neuromyelitis Optica in a Patient from Family with both Myotonic Dystrophy Type 1 and 2
Published in Journal of neuromuscular diseases (2017)“…The aim of this study was to present a family co-segregating myotonic dystrophy type 1 (DM1) and 2 (DM2), and one member affected with neuromyelitis optica…”
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4. Neurophysiologic and clinical characteristic of neuromyotonia in new hereditary neuromuscular disorder
Published in Clinical neurophysiology (01-07-2013)“…Purpose: To present clinical and neurophysiologic findings in patients with hereditary axonal neuropathies and myotonia. Methods: Conventional ENMG technique…”
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Genetic testing of individuals with pre‐senile cataract identifies patients with myotonic dystrophy type 2
Published in European journal of neurology (01-11-2017)Get full text
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NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia
Published in Andrologia (01-02-2018)“…Summary Results of recent studies confirmed that oxidative stress negatively affects sperm motility and causes sperm DNA damage. Produced by nitric oxide…”
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Genetic variants in RNA-induced silencing complex genes and prostate cancer
Published in World journal of urology (01-04-2017)“…Purpose The purpose of this study is to evaluate the potential association between genetic variants in genes encoding the components of RNA-induced silencing…”
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Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients
Published in Balkan journal of medical genetics (01-03-2023)“…Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural…”
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469P Modal allele change as a predictor of skeletal muscle symptoms progression in myotonic dystrophy type 1
Published in Neuromuscular disorders : NMD (01-10-2024)“…Somatic instability of DMPK CTG expansion causing myotonic dystrophy type 1 (DM1) is tissue-specific with a continuous increase in repeat number over time. It…”
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Comparison of temporal and stride characteristics in myotonic dystrophies type 1 and 2 during dual-task walking
Published in Gait & posture (01-02-2016)“…Highlights • We analyzed gait in myotonic dystrophy types 1 and 2 while performing dual tasks. • The patients performed dual motor, dual mental and combined…”
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Assessment of association between genetic variants in microRNA genes hsa-miR-499, hsa-miR-196a2 and hsa-miR-27a and prostate cancer risk in Serbian population
Published in Experimental and molecular pathology (01-08-2015)“…Due to their potentially functional significance, genetic variants within microRNA genes have been recognized as candidates for cancer-related genetic…”
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156P Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma in clinically silent and childhood-onset SMA individuals from Serbia
Published in Neuromuscular disorders : NMD (01-10-2024)“…Biomarkers capable of reflecting disease onset and short- and long-term therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an…”
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S105: Assessment of possible association between genetic variant rs895819 in miR-27a gene and infertility in males diagnosed with non-obstructive azoospermia (NOA) from Serbian population
Published in European urology supplements : official journal of the European Association of Urology (01-11-2014)Get full text
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Metabolic syndrome in myotonic dystrophy type 2
Published in Journal of the neurological sciences (15-10-2017)Get full text
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