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Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies

Balkan journal of medical genetics, 2013-06, Vol.16 (1), p.21-29

2013

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Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes

Journal of genetics, 2018-06, Vol.97 (2), p.419-427

2018

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PP08.3 – 2856: Luciferase assay to detect neutralizing antibodies in adolescent Bulgarian multiple sclerosis patients treated with interferon beta

European journal of paediatric neurology, 2015-05, Vol.19, p.S60-S60

2015

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Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S107-S108

2016

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Levetiracetam and steroids in epilepsies with continuous spikes and waves during slow sleep: a prospective study on 12 children

European journal of paediatric neurology, 2008, Vol.12, p.S40-S40

2008

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Transient anterior opercular syndrome in a child with benign epilepsy with centrotemporal spikes complicated with continuous spike-waves during sleep

European journal of paediatric neurology, 2008, Vol.12, p.S34-S34

2008

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Epidemiological and clinical characteristics of subacute sclerosing panencephalitis in Bulgaria

European journal of paediatric neurology, 2008, Vol.12, p.S57-S57

2008

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Transient cerebellar mutism and pathological laughter in a child with acute cerebellitis

European journal of paediatric neurology, 2008, Vol.12, p.S56-S57

2008

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ETP05 Probable age-association of the Lamotrigine effect in atypical rolandic epilepsy

European journal of paediatric neurology, 2007, Vol.11, p.83-83

2007

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Targeted screening for detection of Pompe disease in patients with unclassified Limb-Girdle Muscular Dystrophy (lGMD) using Dried-Blood Spot (DBS) test: Bulgarian experience

Journal of the neurological sciences, 2019-10, Vol.405, p.353-353

2019

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Multiple sclerosis in childhood – clinical characteristics, diagnosis, prognosis, treatment

European journal of paediatric neurology, 2008, Vol.12, p.S71-S72

2008

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Definite and Suspected Multiple Sclerosis in Children: Long-Term Follow-up and Magnetic Resonance Imaging Findings

Journal of child neurology, 2001-05, Vol.16 (5), p.317-324

2001

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NOP06 Ataxia-Telangiectasia: two Bulgarian siblings with the 3576G>A founder mutation on ATM gene

European journal of paediatric neurology, 2007, Vol.11, p.118-118

2007

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O96 – 1638 Electrical status epilepticus in sleep (ESES): etiology, clinical picture and course

European journal of paediatric neurology, 2013-09, Vol.17, p.S30-S30

2013

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O97 – 1635 Treatment of electrical status epilepticus in sleep (ESES): efficacy and unsolved questions

European journal of paediatric neurology, 2013-09, Vol.17, p.S30-S30

2013

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P.61 - Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S107-S108

2016

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Three Novel NF1 Gene Mutations in a Cohort of Bulgarian Neurofibromatoses Patients

Russian journal of genetics, 2018, Vol.54 (1), p.110-116

2018

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Натриеви каналопатии и епилепсия (II част)

Bŭlgarska nevrologii︠a︡ : izdanie na Bŭlgarskoto druzhestvo po nevrologii︠a︡ = Bulgarian neurology : official journal of the Bulgarian Society of Neurology, 2021-12, Vol.22 (3)

2021

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Натриеви каналопатии и епилепсия (I част)

Bŭlgarska nevrologii︠a︡ : izdanie na Bŭlgarskoto druzhestvo po nevrologii︠a︡ = Bulgarian neurology : official journal of the Bulgarian Society of Neurology, 2021-12, Vol.22 (3)

2021

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Ювенилен паркинсонизъм – Дистония-паркинсонизъм, Атаксия-паркинсонизъм, Спастична параплегия-паркинсонизъм, Паркинсонизъм при нарушение на обмяната на металите – II част

Bŭlgarska nevrologii︠a︡ : izdanie na Bŭlgarskoto druzhestvo po nevrologii︠a︡ = Bulgarian neurology : official journal of the Bulgarian Society of Neurology, 2023-12, Vol.24 (3)

2023

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Клинични и МРТ характеристики на тубулинопатиите. Клиничен случай на TUBA1A асоциирана пахигирия и церебеларна хипоплазия

Bŭlgarska nevrologii︠a︡ : izdanie na Bŭlgarskoto druzhestvo po nevrologii︠a︡ = Bulgarian neurology : official journal of the Bulgarian Society of Neurology, 2023-12, Vol.24 (3)

2023

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Автозомно-доминантен и автозомно-рецесивен Ювенилен паркинсонизъм – I част

Bŭlgarska nevrologii︠a︡ : izdanie na Bŭlgarskoto druzhestvo po nevrologii︠a︡ = Bulgarian neurology : official journal of the Bulgarian Society of Neurology, 2023-12, Vol.24 (3)

2023

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Атипична образна находка при деца с множествена склероза – представяне на клинични случаи

Bŭlgarska nevrologii︠a︡ : izdanie na Bŭlgarskoto druzhestvo po nevrologii︠a︡ = Bulgarian neurology : official journal of the Bulgarian Society of Neurology, 2024-04, Vol.25 (1)

2024

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P05.12 The first case of genetically proven variant late-infantile neuronal ceroid lipofuscinosis in Bulgaria harbors the founder CLN7/MFSD8 mutation in Roma

European journal of paediatric neurology, 2011-05, Vol.15, p.S52-S52

2011

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Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

Epileptic disorders, 2010-06, Vol.12 (2), p.117-124

2010

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Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies

Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes

PP08.3 – 2856: Luciferase assay to detect neutralizing antibodies in adolescent Bulgarian multiple sclerosis patients treated with interferon beta

Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Levetiracetam and steroids in epilepsies with continuous spikes and waves during slow sleep: a prospective study on 12 children

Transient anterior opercular syndrome in a child with benign epilepsy with centrotemporal spikes complicated with continuous spike-waves during sleep

Epidemiological and clinical characteristics of subacute sclerosing panencephalitis in Bulgaria

Transient cerebellar mutism and pathological laughter in a child with acute cerebellitis

ETP05 Probable age-association of the Lamotrigine effect in atypical rolandic epilepsy

Targeted screening for detection of Pompe disease in patients with unclassified Limb-Girdle Muscular Dystrophy (lGMD) using Dried-Blood Spot (DBS) test: Bulgarian experience

Multiple sclerosis in childhood – clinical characteristics, diagnosis, prognosis, treatment

Definite and Suspected Multiple Sclerosis in Children: Long-Term Follow-up and Magnetic Resonance Imaging Findings

NOP06 Ataxia-Telangiectasia: two Bulgarian siblings with the 3576G>A founder mutation on ATM gene

O96 – 1638 Electrical status epilepticus in sleep (ESES): etiology, clinical picture and course

O97 – 1635 Treatment of electrical status epilepticus in sleep (ESES): efficacy and unsolved questions

P.61 - Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Three Novel NF1 Gene Mutations in a Cohort of Bulgarian Neurofibromatoses Patients

Натриеви каналопатии и епилепсия (II част)

Натриеви каналопатии и епилепсия (I част)

Клинични и МРТ характеристики на тубулинопатиите. Клиничен случай на TUBA1A асоциирана пахигирия и церебеларна хипоплазия

Автозомно-доминантен и автозомно-рецесивен Ювенилен паркинсонизъм – I част

Атипична образна находка при деца с множествена склероза – представяне на клинични случаи

P05.12 The first case of genetically proven variant late-infantile neuronal ceroid lipofuscinosis in Bulgaria harbors the founder CLN7/MFSD8 mutation in Roma

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

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