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V. Guergueltcheva · SciRah

Researcher profile · Semantic Scholar

V. Guergueltcheva

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V. Guergueltcheva — researcher profile on SciRah

h-index: 36
Works: 98
Citations: 4,488

Most-cited papers

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
K. Verhoeven, K. Claeys, S. Züchner, J. Schröder +35 more
2006Brain : a journal of neurology418 citations Open access
Semantic Scholar
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
A. Jordanova, J. Irobi, F. Thomas, P. van Dijck +20 more
2006Nature Genetics378 citations Open access
Semantic Scholar
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
S. Züchner, P. de Jonghe, A. Jordanova, K. Claeys +15 more
2006Annals of Neurology364 citations
Semantic Scholar
Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP
Y. Parman, D. Adams, L. Obici, L. Galán +3 more
2016Current Opinion in Neurology217 citations Open access
Semantic Scholar
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
J. Senderek, J. Müller, M. Dusl, T. Strom +35 more
2011American Journal of Human Genetics181 citations Open access
Semantic Scholar
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
J. Senderek, S. Garvey, M. Krieger, V. Guergueltcheva +19 more
2009American Journal of Human Genetics179 citations Open access
Semantic Scholar
Mutation history of the roma/gypsies.
B. Morar, D. Gresham, D. Angelicheva, I. Tournev +18 more
2004American Journal of Human Genetics171 citations Open access
Semantic Scholar
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase
Weiwei He, G. Bai, Hui-Hao Zhou, Na Wei +13 more
2015Nature158 citations Open access
Semantic Scholar
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Z. Koeks, C. Bladen, David Salgado, E. V. van Zwet +60 more
2017Journal of Neuromuscular Diseases157 citations Open access
Semantic Scholar
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
M. Zimon, J. Baets, L. Almeida-Souza, E. De Vriendt +33 more
2012Nature Genetics130 citations
Semantic Scholar
Congenital myasthenic syndromes: Achievements and limitations of phenotype‐guided gene‐after‐gene sequencing in diagnostic practice: A study of 680 patients
A. Abicht, M. Dusl, C. Gallenmüller, V. Guergueltcheva +10 more
2012Human Mutation120 citations Open access
Semantic Scholar
The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
C. Bladen, K. Rafferty, V. Straub, S. Monges +61 more
2013Human Mutation105 citations Open access
Semantic Scholar
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
V. Guergueltcheva, D. Azmanov, D. Angelicheva, Katherine R. Smith +14 more
2012American Journal of Human Genetics102 citations Open access
Semantic Scholar
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
C. Bladen, R. Thompson, J. M. Jackson, C. Garland +58 more
2013Journal of Neurology100 citations Open access
Semantic Scholar
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
V. Guergueltcheva, J. Müller, M. Dusl, J. Senderek +33 more
2012Journal of Neurology98 citations Open access
Semantic Scholar
Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies
T. Chamova, V. Guergueltcheva, M. Raycheva, T. Todorov +6 more
2013Balkan Journal of Medical Genetics77 citations Open access
Semantic Scholar
A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)
J. Hantke, D. Chandler, R. King, R. Wanders +8 more
2009European Journal of Human Genetics73 citations Open access
Semantic Scholar
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
A. Chaouch, J. Müller, V. Guergueltcheva, M. Dusl +12 more
2012Journal of Neurology72 citations Open access
Semantic Scholar
Needle acupuncture in chronic poststroke leg spasticity.
M. Fink, J. Rollnik, M. Bijak, Caroline Borstädt +4 more
2004Archives of Physical Medicine and Rehabilitation72 citations
Semantic Scholar
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
A. Jordanova, F. Thomas, V. Guergueltcheva, I. Tournev +10 more
2003American Journal of Human Genetics70 citations Open access
Semantic Scholar
REFINEMENT OF THE CLINICAL PHENOTYPE IN MUSK-RELATED CONGENITAL MYASTHENIC SYNDROMES
V. Mihaylova, M. A. Salih, M. Mukhtar, H. Abuzeid +8 more
2009Neurology68 citations Open access
Semantic Scholar
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
Craig L. Bennett, A. Shirk, H. M. Huynh, V. A. Street +16 more
2004Annals of Neurology67 citations
Semantic Scholar
Risk factors for autonomic and somatic nerve dysfunction in different stages of glucose tolerance.
R. Dimova, T. Tankova, V. Guergueltcheva, I. Tournev +3 more
2017Journal of diabetes and its complications66 citations
Semantic Scholar
European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences
J. Vry, K. Gramsch, Sunil Rodger, R. Thompson +21 more
2016Journal of Neuromuscular Diseases66 citations Open access
Semantic Scholar
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil
V. Mihaylova, R. Scola, B. Gervini, P. Lorenzoni +9 more
2010Journal of Neurology Neurosurgery & Psychiatry61 citations Open access
Semantic Scholar
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
D. Azmanov, S. Siira, T. Chamova, A. Kaprelyan +12 more
2016Human Molecular Genetics60 citations
Semantic Scholar
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations
I. Tournev, L. Kalaydjieva, B. Youl, Boryana Ishpekova +19 more
1999Annals of Neurology60 citations
Semantic Scholar
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
C. Gallenmüller, W. Müller-Felber, M. Dusl, R. Stucka +7 more
2014Neuromuscular Disorders59 citations Open access
Semantic Scholar
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
V. Guergueltcheva, K. Peeters, J. Baets, C. Ceuterick-de Groote +21 more
2011Neurology55 citations
Semantic Scholar
Hereditary motor and sensory neuropathy‐russe: New autosomal recessive neuropathy in balkan gypsies
P. Thomas, L. Kalaydjieva, B. Youl, T. Rogers +12 more
2001Annals of Neurology53 citations
Semantic Scholar
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene
A. Suls, R. Velizarova, I. Yordanova, L. Deprez +7 more
2010Neurology49 citations
Semantic Scholar
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies
T. Chamova, Laura Florez, V. Guergueltcheva, M. Raycheva +4 more
2012Journal of Neurology45 citations
Semantic Scholar
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia
Dahlia Kancheva, T. Chamova, V. Guergueltcheva, V. Mitev +4 more
2015Movement Disorders44 citations
Semantic Scholar
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
T. Chamova, V. Guergueltcheva, M. Gospodinova, S. Krause +16 more
2015Neuromuscular Disorders38 citations Open access
Semantic Scholar
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
M. Zimon, E. Battaloğlu, Y. Parman, S. Erdem +23 more
2014Neurogenetics37 citations Open access
Semantic Scholar
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
D. Rossi, J. Palmio, A. Evilä, L. Galli +16 more
2017PLoS ONE36 citations Open access
Semantic Scholar
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy
S. Bervoets, Na Wei, Maria-Luise Erfurth, Shazie Yusein-Myashkova +12 more
2019Nature Communications34 citations Open access
Semantic Scholar
DOK7 mutations presenting as a proximal myopathy in French Canadians.
M. Srour, V. Bolduc, V. Guergueltcheva, Hanns Lochmüller +6 more
2010Neuromuscular Disorders28 citations Open access
Semantic Scholar
MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.
A. Todorova, T. Todorov, B. Georgieva, Michaela Lukova +3 more
2008Neuromuscular Disorders23 citations
Semantic Scholar
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
L. Kalaydjieva, Hanns Lochmüller, I. Tournev, F. Baas +16 more
2005Neuromuscular Disorders23 citations Open access
Semantic Scholar
L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype
D. Kabzińska, H. Strugalska-Cynowska, A. Kostera-Pruszczyk, B. Ryniewicz +14 more
2010Neurogenetics22 citations
Semantic Scholar
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
R. Selvatici, R. Rossi, F. Fortunato, C. Trabanelli +45 more
2020Neurology: Genetics21 citations Open access
Semantic Scholar
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
I. Ivanov, D. Azmanov, Mariya Ivanova, T. Chamova +25 more
2014Molecular Genetics and Metabolism19 citations Open access
Semantic Scholar
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy
F. Thomas, V. Guergueltcheva, F. A. A. Gondim, I. Tournev +9 more
2016Journal of Neurology17 citations
Semantic Scholar
Challenges of diagnostic exome sequencing in an inbred founder population
D. Azmanov, T. Chamova, Rick M. Tankard, V. Gelev +8 more
2013Molecular Genetics & Genomic Medicine16 citations Open access
Semantic Scholar
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3‐q32
D. Angelicheva, I. Tournev, V. Guergueltcheva, V. Mihaylova +13 more
2009Epilepsia16 citations
Semantic Scholar
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
I. Núñez-Carpintero, Maria Rigau, Mattia Bosio, E. O'Connor +14 more
2023bioRxiv15 citations Open access
Semantic Scholar
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.
T. Chamova, S. Bichev, T. Todorov, M. Gospodinova +14 more
2017Neuromuscular Disorders15 citations
Semantic Scholar
Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)
V. Guergueltcheva, I. Tournev, V. Bojinova, J. Hantke +6 more
2006Journal of Child Neurology15 citations
Semantic Scholar
Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map.
J. Hantke, T. Rogers, L. French, I. Tournev +8 more
2003Neuromuscular Disorders15 citations
Semantic Scholar

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