I. Tournev

A. González-Duarte, M. Polydefkis, J. Vest, 2022, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time.

Giovanni Destro-Bisol, David Gresham, Marcus W Feldman, 2004, American journal of human genetics.

Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations*

I. Conceição, S. Attarian, M. Ueda, 2019, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

D. Timmann, B. Asselbergh, R. Schüle, 2017, Brain : a journal of neurology.

Traditional practices and perceptions of epilepsy among people in Roma communities in Bulgaria

I. Tournev, J. Sander, Sashka Zhelyazkova, 2020, Epilepsy & Behavior.

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

K. Bushby, Hanns Lochmüller, Rachel Thompson, 2016, Journal of neuromuscular diseases.

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

Katherine R. Smith, R. Kaneva, M. Bahlo, 2012, American journal of human genetics.

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

R. Kaneva, M. Juan, P. Majumder, 2011, European Journal of Human Genetics.

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

F. Baas, R. Kaneva, R. Wanders, 2009, European Journal of Human Genetics.

Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy

M. Tarnopolsky, H. Lochmüller, R. Horvath, 2021, Journal of neuromuscular diseases.

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

M. Bahlo, H. Goebel, L. Kalaydjieva, 2015, Neuromuscular Disorders.

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients

I. Kremensky, J. Horst, V. Mitev, 2007, Neurogenetics.

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

A. Toutain, B. Echenne, L. Kalaydjieva, 2000, Neurology.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Hanns Lochmüller, V. Timmerman, A. Suls, 2011, Neurology.

Origins and divergence of the Roma (gypsies).

P. Underhill, P. Shen, P. Oefner, 2001, American journal of human genetics.

Loss-of-function mutations in the ATP 13 A 2 / PARK 9 gene cause complicated hereditary spastic paraplegia ( SPG 78 )

D. Timmann, B. Asselbergh, R. Schüle, 2017 .

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.

Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.

T. Todorov, A. Todorova, I. Tournev, 2019, Journal of gastrointestinal and liver diseases : JGLD.

Founder effect of the Glu89Gln TTR mutation in the Bulgarian population

V. Mitev, T. Todorov, A. Todorova, 2019, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

C. Broeckhoven, W. Robberecht, J. Vandekerckhove, 2004, Nature Genetics.

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

S. Solomon, M. Sweetser, Y. Parman, 2018, The New England journal of medicine.

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.

L. Kalaydjieva, P. Seeman, D. Chandler, 2007, Genetic testing.

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

J. Beckmann, M. Hauser, K. Zerres, 2009, American journal of human genetics.

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

D. Cirillo, H. Lochmüller, Rachel Thompson, 2023, bioRxiv.

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.

Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease

Hanns Lochmüller, Thomas Voit, P K Thomas, 2003, Human mutation.

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

L. Kalaydjieva, P. Thomas, D. Chandler, 2000, American journal of human genetics.

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

J. Thevelein, W. Robberecht, P. Callaerts, 2006, Nature Genetics.

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

F. Alkuraya, M. Tarailo-Graovac, C. V. van Karnebeek, 2016, Molecular genetics and metabolism.

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.

Stefan J. Siira, L. Kalaydjieva, Z. Kamenov, 2016, Human molecular genetics.

Axonal neuropathy with neuromyotonia: there is a HINT

A. Jordanova, I. Tournev, T. Chamova, 2016, Brain : a journal of neurology.

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

K. K. Yong, N. Risch, Hua Tang, 2003, Nature Genetics.

Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy

T. Godenschwege, B. Asselbergh, D. Blocquel, 2019, Nature Communications.

B. Peterlin, A. Maver, V. Mitev, 2021, Neuromuscular Disorders.

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

F. Jessen, G. Frisoni, K. Sleegers, 2012, Human mutation.

Familial generalized epilepsy in Bulgarian Roma.

M. Lathrop, P. Genton, M. Raycheva, 2007, Epileptic disorders : international epilepsy journal with videotape.

Mutation history of the roma/gypsies.

Jeff P. Reeve, J. Reeve, A. Tordai, 2004, American journal of human genetics.

Peripheral nerve ultrasonography in patients with transthyretin amyloidosis

J. Zidar, I. Tournev, S. Podnar, 2017, Clinical Neurophysiology.

Origins, admixture and founder lineages in European Roma

M. Netea, D. Comas, J. Bertranpetit, 2015, European Journal of Human Genetics.

Poster session Wednesday 11 December all day display: 11/12/2013, 09:30-16:00 * Location: Poster area

J. C. Ortiz, A. Cuvelier, S. Ramakrishnan, 2013 .

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

P. D. Rijk, S. Züchner, Y. Parman, 2012, Nature Genetics.

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

A. Pérez-Lezaun, J. Hallmayer, L. Kalaydjieva, 1999, American Journal of Human Genetics.

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

M. Tarnopolsky, H. Lochmüller, M. Mirabella, 2019, Neurology.

C283Y mutation and other C‐terminal nucleotide changes in the γ‐sarcoglycan gene in the Bulgarian gypsy population

I. Kremensky, A. Todorova, I. Tournev, 1999, Human mutation.

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia

L. Kalaydjieva, V. Mitev, A. Jordanova, 2015, Movement disorders : official journal of the Movement Disorder Society.

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

L. Kalaydjieva, M. Raycheva, I. Tournev, 2015, Behavioural neurology.

Fecal calprotectin concentrations in patients with hereditary transthyretin amyloidosis and gastrointestinal symptoms.

I. Tournev, R. Nakov, M. Gospodinova, 2020, European journal of gastroenterology & hepatology.

Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages

M. Hurles, P. Underhill, M. Jobling, 2001, European Journal of Human Genetics.

Risk factors for autonomic and somatic nerve dysfunction in different stages of glucose tolerance.

Ivailo Tournev, T. Tankova, Velina Guergueltcheva, 2017, Journal of diabetes and its complications.

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

R. Kaneva, Hanns Lochmüller, L. Kalaydjieva, 2012, Journal of Neurology.

Abstracts from the First European Meeting for ATTR Amyloidosis for Doctors and Patients

M. Sweetser, J. Gollob, I. Conceição, 2017, Orphanet Journal of Rare Diseases.

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

M. Brown, L. Kalaydjieva, R. Horvath, 2014, Molecular genetics and metabolism.

Challenges of diagnostic exome sequencing in an inbred founder population

M. Bahlo, L. Kalaydjieva, M. Bynevelt, 2013, Molecular genetics & genomic medicine.

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24.

G. Watts, L. Kalaydjieva, E. Ingley, 2005, Biochemical and biophysical research communications.

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

R. Frants, R. Lemmers, G. Padberg, 2005, Neuromuscular Disorders.

ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress

V. Baekelandt, P. Agostinis, Shaun Martin, 2020, Proceedings of the National Academy of Sciences.

Neurological Symptoms, Genotype-Phenotype Correlations and Ethnic-specific Differences in Bulgarian Patients With Wilson Disease

Georgi Georgiev, Ivailo Tournev, V. Mihaylova, 2012, The neurologist.

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

K. Lohmann, L. Kalaydjieva, V. Kostic, 2016, Movement disorders : official journal of the Movement Disorder Society.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American journal of human genetics.

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

D. Cirillo, H. Lochmüller, Rachel Thompson, 2023, bioRxiv.

Screening for C283Y γ-Sarcoglycan Mutation in a High-Risk Group of Bulgarian Gypsies: Evidence for a Geographical Localization and a Non-Random Distribution among Gypsy Subgroups

I. Kremensky, A. Todorova, I. Tournev, 2002, Public Health Genomics.

Screening for hereditary transthyretin amyloidosis in Bulgaria

T. Todorov, A. Todorova, I. Tournev, 2021, Medicine and pharmacy reports.

Characterizing absolute lymphocyte count profiles in dimethyl fumarate–treated patients with MS

Alexander Parajeles Vindas, P. Kowey, D. Arnold, 2016, Neurology. Clinical practice.

Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree

D. Devos, T. Todorov, A. Todorova, 2023, Frontiers in Neurology.

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

T. Todorov, P. Dimova, V. Mitev, 2018, Russian Journal of Genetics.

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.

R. Kaneva, A. Wright, S. Bhattacharya, 2006, Molecular vision.

Concomitant insulinoma and type 2 diabetes mellitus diagnoses: a case report

Z. Kamenov, A. Gateva, I. Tournev, 2016, Journal of diabetes.

Fecal calprotectin levels are elevated in transthyretin amyloidosis patients with gastrointestinal manifestations

G. Ianiro, T. Todorov, A. Todorova, 2020, Medicine.

C283Y mutation and other C‐terminal nucleotide changes in the γ‐sarcoglycan gene in the Bulgarian Gypsy population

I. Kremensky, A. Todorova, I. Tournev, 2000 .

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C

I. Tournev, V. Guergueltcheva, S. Cherninkova, 2016, European Neurology.

Left ventricular function in Duchenne muscular relation to some clinical parameters

A. Todorova, I. Tournev, S. Denchev, 2016 .

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments

R. Frants, R. Lemmers, I. Kremensky, 2005, Human Genetics.

GNE protein expression and subcellular distribution are unaltered in HIBM

Hanns Lochmüller, S. Krause, M. Walter, 2007, Neurology.

Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay

I. Diemberger, L. Amass, M. Maurer, 2023, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American Journal of Human Genetics.

Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria

V. Mitev, T. Todorov, A. Todorova, 2021, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Epidemiology of Familial Amyloid Polyneuropathy in Bulgaria

T. Todorov, I. Tournev, M. Gospodinova, 2015, Orphanet Journal of Rare Diseases.

Unique PABPN1 gene mutation in a large Bulgarian family with OPMD

M. Walter, V. Mihaylova, M. Deschauer, 2008, Journal of Neurology.

Impact of Vutrisiran on Quality of Life and Physical Function in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy

Karla P. Zepeda, Hansie M Mathelier, J. Felius, 2023, Neurology and Therapy.

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

M. Sweetser, Y. Parman, P. Dyck, 2018, The New England journal of medicine.

C283Y gamma‐sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high‐risk community

I. Kremensky, V. Mitev, A. Todorova, 2004, Clinical genetics.

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

Josemir W Sander, I. Scheffer, A. Jablensky, 2010, Epileptic disorders : international epilepsy journal with videotape.

Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype

T. Todorov, A. Todorova, I. Tournev, 2023, Frontiers in cardiovascular medicine.

Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy‐Lom

R. King, Thomas, I. Tournev, 1999, Neuropathology and Applied Neurobiology.

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

K. Lohmann, L. Kalaydjieva, V. Kostic, 2016, Movement disorders : official journal of the Movement Disorder Society.

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

K. Claeys, L. Medne, C. Bönnemann, 2020, Acta Neuropathologica.

Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report.

T. Todorov, A. Todorova, I. Tournev, 2019, Journal of gastrointestinal and liver diseases : JGLD.

Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population

I. Kremensky, V. Mihaylova, I. Tournev, 2005, Clinical genetics.

Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes

V. Mitev, T. Todorov, A. Todorova, 2023, Genes.