Velina Guergueltcheva

Velina Guergueltcheva

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Velina Guergueltcheva

Velina Guergueltcheva

Publications by authors named "Velina Guergueltcheva"

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Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Neuromuscul Disord 2018 08 17;28(8):625-632. Epub 2018 May 17.

Department of Neurology, University Hospital "Alexandrovska", Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2018.05.005DOI Listing
August 2018

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

J Diabetes Complications 2017 Mar 6;31(3):537-543. Epub 2016 Nov 6.

Department of Diabetology, Clinical Center of Endocrinology, Medical University Sofia, Sofia, 1431, Bulgaria.

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http://dx.doi.org/10.1016/j.jdiacomp.2016.11.002DOI Listing
March 2017

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

Hum Mol Genet 2016 10 9;25(19):4302-4314. Epub 2016 Aug 9.

Harry Perkins Institute of Medical Research and Centre for Medical Research, Level 7, QQ Block, QEII Medical Centre, 6 Verdun Street, and School of Chemistry and Biochemistry, The University of Western Australia, Crawley, WA 6009, Australia,

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http://dx.doi.org/10.1093/hmg/ddw263DOI Listing
October 2016

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

J Neurol 2016 Mar 2;263(3):467-76. Epub 2016 Jan 2.

Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00415-015-7989-8DOI Listing
March 2016

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.

Curr Opin Neurol 2016 Feb;29 Suppl 1:S3-S13

aDepartment of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey bCHU Bicêtre, Université Paris-Sud, Paris, France cAmyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy dServicio de Neurología, Hospital Clínico San Carlos, Madrid, Spain eUniversity Hospital Sofiamed, Sofia, Bulgaria fDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden gHospital Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WCO.0000000000000288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739317PMC
February 2016

Reply: Mutations in TUBB4A and spastic paraplegia.

Mov Disord 2015 Nov 19;30(13):1858-9. Epub 2015 Oct 19.

Medical University of Sofia, Faculty of Medicine, Department of Neurology, Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria.

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http://dx.doi.org/10.1002/mds.26442DOI Listing
November 2015

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

Neuromuscul Disord 2015 Sep 13;25(9):713-8. Epub 2015 Jul 13.

Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2015.07.004DOI Listing
September 2015

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

Mov Disord 2015 May 15;30(6):854-8. Epub 2015 Mar 15.

Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/mds.26196DOI Listing
May 2015

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
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http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
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http://link.springer.com/10.1007/s00415-013-7154-1
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http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 2014

Challenges of diagnostic exome sequencing in an inbred founder population.

Mol Genet Genomic Med 2013 Jul 22;1(2):71-6. Epub 2013 Apr 22.

Laboratory for Molecular Genetics, Centre for Medical Research/Western Australian Institute for Medical Research, The University of Western Australia Perth, WA, Australia.

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http://dx.doi.org/10.1002/mgg3.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865571PMC
July 2013

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

J Neurol 2012 May 19;259(5):906-11. Epub 2011 Oct 19.

Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria.

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http://dx.doi.org/10.1007/s00415-011-6276-6DOI Listing
May 2012

A novel GEFS+ locus on 12p13.33 in a large Roma family.

Epilepsy Res 2011 Nov 13;97(1-2):198-207. Epub 2011 Sep 13.

Centre for Medical Research/Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2011.08.009DOI Listing
November 2011

DOK7 mutations presenting as a proximal myopathy in French Canadians.

Neuromuscul Disord 2010 Jul 17;20(7):453-7. Epub 2010 Jun 17.

Laboratoire de neurogénétique de la motricité, Centre de recherche du CHUM, Montréal, Université de Montréal, QC, Canada.

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http://dx.doi.org/10.1016/j.nmd.2010.05.007DOI Listing
July 2010

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

Eur J Hum Genet 2009 Dec 17;17(12):1606-14. Epub 2009 Jun 17.

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1038/ejhg.2009.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987011PMC
December 2009

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.

Epilepsia 2009 Jul 23;50(7):1679-88. Epub 2009 Mar 23.

Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02066.xDOI Listing
July 2009

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.

Neuromuscul Disord 2008 Aug 23;18(8):667-70. Epub 2008 Jul 23.

Department of Chemistry and Biochemistry, Medical Faculty, Sofia Medical University, 2 Zdrave str., Sofia 1431, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2008.06.369DOI Listing
August 2008

Mutation history of the roma/gypsies.

Am J Hum Genet 2004 Oct 20;75(4):596-609. Epub 2004 Aug 20.

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and UWA Centre for Medical Research, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1086/424759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182047PMC
October 2004

Needle acupuncture in chronic poststroke leg spasticity.

Arch Phys Med Rehabil 2004 Apr;85(4):667-72

Department of Physical Medicine and Rehabilitation, Medical School of Hannover, Germany.

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http://dx.doi.org/10.1016/j.apmr.2003.06.012DOI Listing
April 2004

Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map.

Neuromuscul Disord 2003 Nov;13(9):729-36

Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.

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November 2003