I. Litvinenko

发表

Three cases of paralytic poliomyelitis associated with type 3 vaccine poliovirus strains in Bulgaria

L. Fiore, N. Korsun, M. Kojouharova, 2009, Journal of medical virology.

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene

I. Litvinenko, V. Mitev, S. Tincheva, 2015, Neurological Sciences.

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

K. Claeys, B. Ceulemans, M. Sereda, 2007, Archives of neurology.

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

T. Todorov, V. Mitev, D. Craiu, 2018, Journal of Genetics.

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

A. Ferlini, M. Neri, D. Vlodavets, 2020, Neurology Genetics.

Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.

D. Toncheva, I. Litvinenko, A. Todorova, 2012, Genetic counseling.

Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)

L. Kalaydjieva, A. Jordanova, I. Litvinenko, 2006, Journal of child neurology.

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene

D. Hristova, I. Litvinenko, P. Dimova, 2011, Neuroscience Letters.

Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies

V. Timmerman, A. Jordanova, I. Litvinenko, 2015, Human mutation.

Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary

L. Kalaydjieva, A. Jordanova, I. Litvinenko, 2002, Neuromuscular Disorders.

Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria

A. Jordanova, I. Litvinenko, I. Kremensky, 1999, Journal of Inherited Metabolic Disease.

Deletion analysis of Bulgarian SMA families

A. Jordanova, I. Litvinenko, I. Kremensky, 1998, Human mutation.

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

M. Schroth, D. Zafeiriou, Y. Chien, 2021, Neuromuscular Disorders.

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

F. Muntoni, N. Clarke, D. Herrmann, 2015, Brain : a journal of neurology.

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy

S. Scherer, A. Jordanova, I. Litvinenko, 2016, Journal of Neurology.

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

B. Asselbergh, V. Timmerman, T. Ooms, 2013, American journal of human genetics.

Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability.

R. Kaneva, A. Jordanova, I. Litvinenko, 2018, Gene.

Detection of Genomic Imbalances by Array-Based Comparative Genomic Hybridization in Bulgarian Patients with Autism Spectrum Disorders

D. Toncheva, D. Nesheva, I. Litvinenko, 2012 .

A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier

T. Todorov, I. Litvinenko, S. Tincheva, 2014, Clinical genetics.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

F. Muntoni, N. Clarke, Michael A. Gonzalez, 2015, Brain : a journal of neurology.

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.

V. Timmerman, P. de Jonghe, A. Jordanova, 2003, American journal of human genetics.

Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions

I. Litvinenko, V. Mitev, S. Tincheva, 2016, Neuromuscular Disorders.

Clinical and Genetic Diagnosis of Allgrove Syndrome

I. Litvinenko, D. Yordanova, E. Stefanova, 2014 .

Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.

A. Jordanova, I. Litvinenko, A. Savov, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

CLINICAL CASE OF A CHILD WITH TYPE 1 DIABETES MELLITUS AND AUTOIMMUNE ENCEPHALOPATHY

M. Konstantinova, I. Litvinenko, D. Iliev, 2015 .

One Novel and One Recurrent Mutation in IGHMBP2 Gene, Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth

R. Georgieva, I. Litvinenko, V. Mitev, 2014, Journal of child neurology.

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

T. Todorov, V. Mitev, D. Craiu, 2018, Journal of Genetics.

BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.

I. Litvinenko, A. Todorova, I. Yordanova, 2016, Genetic counseling.

Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome

R. Kaneva, V. Mitev, A. Jordanova, 2018, Seizure.

Impact of KCNQ2 mutations in Bulgarian patients with electroclinical syndromes with onset in the first year of life

R. Kaneva, A. Jordanova, D. Hristova, 2017 .

SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.

R. Kaneva, A. Jordanova, D. Hristova, 2020, The Turkish journal of pediatrics.