Publications by authors named "Ivan Litvinenko"

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Identification and Characterization of Novel Founder Mutations in : Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.
Derek Atkinson, Teodora Chamova, Ayse Candayan, Kristina Kastreva, Ognian Asenov, Ivan Litvinenko

Int J Mol Sci· August 2024

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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.
Maria Judit Molnar, Léna Szabó, Oana Aurelia Vladacenco, Ana Maria Cobzaru, Talya Dor, Ivan Litvinenko

Orphanet J Rare Dis· July 2024

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SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
Valentina Peycheva, Nevyana Ivanova, Kunka Kamenarova, Margarita Panova, Iliana Pacheva, Ivan Litvinenko

Turk J Pediatr· August 2021

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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Ivan Litvinenko

Neurol Genet· February 2021

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Hydrocarbon molecular markers in the Holocene bottom sediments of the Barents Sea as indicators of natural and anthropogenic impacts.
Inna P Morgunova, Vera I Petrova, Ivan V Litvinenko, Anna V Kursheva, Galina I Batova

Mar Pollut Bull· December 2019

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Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability.
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Ivan Litvinenko

Gene· August 2018

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Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
Nevyana Ivanova, Valentina Peycheva, Kunka Kamenarova, Dalia Kancheva, Irina Tsekova, Ivan Litvinenko

Seizure· January 2018

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Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions.
Savina Tincheva, Bilyana Georgieva, Tihomir Todorov, Alexey Savov, Slavena Tsaneva, Ivan Litvinenko

Neuromuscul Disord· October 2016

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Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.
Florian P Thomas, Velina Guergueltcheva, Francisco A A Gondim, Ivailo Tournev, Chitharanjan V Rao, Ivan Litvinenko

J Neurol· March 2016

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First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
Savina Tincheva, Tihomir Todorov, Albena Todorova, Ralica Georgieva, Dimitar Stamatov, Ivan Litvinenko

Neurol Sci· December 2015

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Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
Alexander M Rossor, Emily C Oates, Hannah K Salter, Yang Liu, Sinead M Murphy, Ivan Litvinenko

Brain· November 2015

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Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
Kristien Peeters, Sven Bervoets, Teodora Chamova, Ivan Litvinenko, Els De Vriendt

Hum Mutat· March 2015

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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Alexander M Rossor, Emily C Oates, Hannah K Salter, Yang Liu, Sinead M Murphy, Ivan Litvinenko

Brain· February 2015

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One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.
Ivan Litvinenko, Andrey Ventsislavov Kirov, Ralitsa Georgieva, Tihomir Todorov, Zornitsa Malinova

J Child Neurol· June 2014

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Sources of polycyclic aromatic hydrocarbons in marine sediments from southern and northern areas of the Norwegian continental shelf.
Stepan Boitsov, Vera Petrova, Henning K B Jensen, Anna Kursheva, Ivan Litvinenko

Mar Environ Res· January 2014

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Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
Kristien Peeters, Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida-Souza, Teodora Chamova

Am J Hum Genet· June 2013

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Petroleum-related hydrocarbons in deep and subsurface sediments from South-Western Barents Sea.
Stepan Boitsov, Vera Petrova, Henning K B Jensen, Anna Kursheva, Ivan Litvinenko

Mar Environ Res· June 2011

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One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.
Iglika Yordanova, Tihomir Todorov, Petia Dimova, Dimitrina Hristova, Radka Tincheva, Ivan Litvinenko

Neurosci Lett· April 2011

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Three cases of paralytic poliomyelitis associated with type 3 vaccine poliovirus strains in Bulgaria.
Neli Korsun, Mira Kojouharova, Nadezhda Vladimirova, Lucia Fiore, Ivan Litvinenko

J Med Virol· September 2009

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Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Neviana Ivanova, Kristl G Claeys, Tine Deconinck, Ivan Litvinenko, Albena Jordanova

Arch Neurol· May 2007

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Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies).
Velina Guergueltcheva, Ivailo Tournev, Veneta Bojinova, Janina Hantke, Ivan Litvinenko

J Child Neurol· January 2006

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Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
Albena Jordanova, Florian P Thomas, Velina Guergueltcheva, Ivailo Tournev, Francisco A A Gondim, Ivan Litvinenko

Am J Hum Genet· December 2003

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Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary.
Albena Jordanova, Veronika Kargaci, Ivo Kremensky, Ivan Litvinenko, Maria Uzunova

Neuromuscul Disord· May 2002

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