Albena Jordanova - Publications

Affiliations: 
Universiteit Antwerpen (Belgium) 

71 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Peycheva V, Ivanova N, Kamenarova K, Panova M, Pacheva I, Ivanov I, Bojidarova M, Tacheva G, Stamatov D, Litvinenko I, Hristova D, Deneva D, Rodopska E, Slavkova E, Aleksandrova I, ... ... Jordanova A, et al. SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype. The Turkish Journal of Pediatrics. 62: 711-725. PMID 33108073 DOI: 10.24953/turkjped.2020.05.002  0.4
2019 Bervoets S, Wei N, Erfurth ML, Yusein-Myashkova S, Ermanoska B, Mateiu L, Asselbergh B, Blocquel D, Kakad P, Penserga T, Thomas FP, Guergueltcheva V, Tournev I, Godenschwege T, Jordanova A, et al. Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy. Nature Communications. 10: 5045. PMID 31695036 DOI: 10.1038/s41467-019-12909-9  0.48
2019 Palaima P, Chamova T, Jander S, Mitev V, Van Broeckhoven C, Tournev I, Peeters K, Jordanova A. Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy. Orphanet Journal of Rare Diseases. 14: 197. PMID 31412900 DOI: 10.1186/s13023-019-1162-x  0.48
2019 Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, ... ... Jordanova A, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. 104: 1251. PMID 31173719 DOI: 10.1016/j.ajhg.2019.05.009  0.48
2019 Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, et al. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics. PMID 31011849 DOI: 10.1007/s10048-019-00576-3  0.44
2018 Inzelberg R, Estrada-Cuzcano A, Laitman Y, De Vriendt E, Friedman E, Jordanova A. Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. Journal of Parkinson's Disease. PMID 29966207 DOI: 10.3233/JPD-181360  0.48
2018 Peycheva V, Kamenarova K, Ivanova N, Stamatov D, Avdjieva-Tzavella D, Alexandrova I, Zhelyazkova S, Pacheva I, Dimova P, Ivanov I, Litvinenko I, Bozhinova V, Tournev I, Simeonov E, Mitev V, ... Jordanova A, et al. Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability. Gene. PMID 29753047 DOI: 10.1016/j.gene.2018.05.015  0.48
2017 Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, ... Jordanova A, et al. Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome. Seizure. 54: 41-44. PMID 29223885 DOI: 10.1016/j.seizure.2017.11.014  0.4
2017 Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, ... ... Jordanova A, et al. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain : a Journal of Neurology. PMID 28633435 DOI: 10.1093/brain/awx138  0.44
2017 Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, ... ... Jordanova A, et al. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain : a Journal of Neurology. 140: 287-305. PMID 28137957 DOI: 10.1093/brain/aww307  0.48
2017 Atkinson D, Nikodinovic Glumac J, Asselbergh B, Ermanoska B, Blocquel D, Steiner R, Estrada-Cuzcano A, Peeters K, Ooms T, De Vriendt E, Yang XL, Hornemann T, Milic Rasic V, Jordanova A. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. Neurology. PMID 28077491 DOI: 10.1212/WNL.0000000000003595  0.48
2017 Peeters K, Chamova T, Tournev I, Jordanova A. Axonal neuropathy with neuromyotonia: there is a HINT. Brain : a Journal of Neurology. 140: 868-877. PMID 28007994 DOI: 10.1093/brain/aww301  0.48
2016 van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, ... ... Jordanova A, et al. TBK1 Mutation Spectrum in an Extended European Patient Cohort With Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Human Mutation. PMID 28008748 DOI: 10.1002/humu.23161  0.48
2016 Peeters K, Palaima P, Pelayo-Negro AL, García A, Gallardo E, García-Barredo R, Mateiu L, Baets J, Menten B, De Vriendt E, De Jonghe P, Timmerman V, Infante J, Berciano J, Jordanova A. Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. Annals of Neurology. PMID 27686364 DOI: 10.1002/ana.24775  0.52
2016 Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, et al. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Molecular Genetics and Metabolism. PMID 27477828 DOI: 10.1016/j.ymgme.2016.07.008  0.52
2016 Bais P, Beebe K, Morelli KH, Currie ME, Norberg SN, Evsikov AV, Miers KE, Seburn KL, Guergueltcheva V, Kremensky I, Jordanova A, Bult CJ, Burgess RW. Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions. Biology Open. PMID 27288508 DOI: 10.1242/bio.019273  0.4
2016 Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. PMID 27009151 DOI: 10.1093/brain/aww055  0.48
2016 Thomas FP, Guergueltcheva V, Gondim FA, Tournev I, Rao CV, Ishpekova B, Kinsella LJ, Pan Y, Geller TJ, Litvinenko I, De Jonghe P, Scherer SS, Jordanova A. Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy. Journal of Neurology. PMID 26725087 DOI: 10.1007/s00415-015-7989-8  0.52
2016 Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A. Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 18: 600-7. PMID 26492578 DOI: 10.1038/gim.2015.139  0.48
2015 Berciano J, Peeters K, García A, López-Alburquerque T, Gallardo E, Hernández-Fabián A, Pelayo-Negro AL, De Vriendt E, Infante J, Jordanova A. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. Journal of Neurology. PMID 26645395 DOI: 10.1007/s00415-015-7985-z  0.48
2015 He W, Bai G, Zhou H, Wei N, White NM, Lauer J, Liu H, Shi Y, Dumitru CD, Lettieri K, Shubayev V, Jordanova A, Guergueltcheva V, Griffin PR, Burgess RW, et al. CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase. Nature. 526: 710-4. PMID 26503042 DOI: 10.1038/nature15510  0.52
2015 Chamova T, Kancheva D, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L, Jordanova A, Tournev I. Reply: Mutations in TUBB4A and spastic paraplegia. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 1858-9. PMID 26477690 DOI: 10.1002/mds.26442  0.48
2015 Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 84: 2040-7. PMID 25904691 DOI: 10.1212/WNL.0000000000001583  0.52
2015 Berciano J, García A, Peeters K, Gallardo E, De Vriendt E, Pelayo-Negro AL, Infante J, Jordanova A. NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. Journal of Neurology. 262: 1289-300. PMID 25877835 DOI: 10.1007/s00415-015-7709-4  0.48
2015 Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, ... ... Jordanova A, et al. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. American Journal of Human Genetics. 96: 808-15. PMID 25865495 DOI: 10.1016/j.ajhg.2015.02.016  0.52
2015 Kancheva D, Chamova T, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L, Tournev I, Jordanova A. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 854-8. PMID 25772097 DOI: 10.1002/mds.26196  0.48
2015 Peeters K, Bervoets S, Chamova T, Litvinenko I, De Vriendt E, Bichev S, Kancheva D, Mitev V, Kennerson M, Timmerman V, De Jonghe P, Tournev I, MacMillan J, Jordanova A. Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. Human Mutation. 36: 287-91. PMID 25512093 DOI: 10.1002/humu.22744  0.52
2015 Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain : a Journal of Neurology. 138: 293-310. PMID 25497877 DOI: 10.1093/brain/awu356  0.52
2015 Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, ... ... Jordanova A, et al. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. Neurogenetics. 16: 33-42. PMID 25231362 DOI: 10.1007/s10048-014-0422-0  0.52
2014 Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, et al. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. American Journal of Human Genetics. 95: 590-601. PMID 25439726 DOI: 10.1016/j.ajhg.2014.10.002  0.52
2014 Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, ... ... Jordanova A, et al. Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. Molecular Genetics and Metabolism. 113: 76-83. PMID 25087164 DOI: 10.1016/j.ymgme.2014.07.017  0.48
2014 Peeters K, Chamova T, Jordanova A. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain : a Journal of Neurology. 137: 2879-96. PMID 24970098 DOI: 10.1093/brain/awu169  0.48
2014 Seburn KL, Morelli KH, Jordanova A, Burgess RW. Lack of neuropathy-related phenotypes in hint1 knockout mice. Journal of Neuropathology and Experimental Neurology. 73: 693-701. PMID 24918641 DOI: 10.1097/NEN.0000000000000085  0.52
2014 Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A. CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila. Neurobiology of Disease. 68: 180-9. PMID 24807208 DOI: 10.1016/j.nbd.2014.04.020  0.52
2014 Pavlova R, Mehrabian S, Petrova M, Skelina S, Mihova K, Jordanova A, Mitev V, Traykov L. Cognitive, neuropsychiatric, and motor features associated with apolipoprotein E ε4 allele in a sample of Bulgarian patients with late-onset Parkinson's disease. American Journal of Alzheimer's Disease and Other Dementias. 29: 614-9. PMID 24646656 DOI: 10.1177/1533317514525655  0.52
2014 Janssens K, Goethals S, Atkinson D, Ermanoska B, Fransen E, Jordanova A, Auer-Grumbach M, Asselbergh B, Timmerman V. Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila. Neurobiology of Disease. 65: 211-9. PMID 24521780 DOI: 10.1016/j.nbd.2014.01.021  0.52
2013 Peeters K, Litvinenko I, Asselbergh B, Almeida-Souza L, Chamova T, Geuens T, Ydens E, Zimoń M, Irobi J, De Vriendt E, De Winter V, Ooms T, Timmerman V, Tournev I, Jordanova A. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. American Journal of Human Genetics. 92: 955-64. PMID 23664119 DOI: 10.1016/j.ajhg.2013.04.013  0.52
2013 Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Human Molecular Genetics. 22: 2975-83. PMID 23562820 DOI: 10.1093/hmg/ddt149  0.48
2013 Dillen L, Van Langenhove T, Engelborghs S, Vandenbulcke M, Sarafov S, Tournev I, Merlin C, Cras P, Vandenberghe R, De Deyn PP, Jordanova A, Cruts M, Van Broeckhoven C, van der Zee J. Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients. Neurobiology of Aging. 34: 1711.e1-5. PMID 23312802 DOI: 10.1016/j.neurobiolaging.2012.12.007  0.52
2013 van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Bäumer V, Maes G, Corsmit E, Borroni B, Padovani A, ... ... Jordanova A, ... ... Jordanova A, et al. A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Human Mutation. 34: 363-73. PMID 23111906 DOI: 10.1002/humu.22244  0.52
2012 ZimoÅ„ M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, BattaloÄŸlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, ... ... Jordanova A, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genetics. 44: 1080-3. PMID 22961002 DOI: 10.1038/ng.2406  0.52
2012 Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, ... ... Jordanova A, et al. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Human Molecular Genetics. 21: 5359-72. PMID 22949513 DOI: 10.1093/hmg/dds373  0.52
2012 Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LRF, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, et al. KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy Annals of Neurology. 71: 15-25. PMID 22275249 DOI: 10.1002/ana.22644  0.52
2012 Leitão-Gonçalves R, Ermanoska B, Jacobs A, De Vriendt E, Timmerman V, Lupski JR, Callaerts P, Jordanova A. Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino Acids. 42: 1661-8. PMID 21384131 DOI: 10.1007/s00726-011-0868-4  0.52
2011 Gustavsson A, Svensson M, Jacobi F, Allgulander C, Alonso J, Beghi E, Dodel R, Ekman M, Faravelli C, Fratiglioni L, Gannon B, Jones DH, Jennum P, Jordanova A, Jönsson L, et al. Cost of disorders of the brain in Europe 2010. European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology. 21: 718-79. PMID 21924589 DOI: 10.1016/j.euroneuro.2011.08.008  0.52
2011 Baets J, Deconinck T, De Vriendt E, ZimoÅ„ M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, ... ... Jordanova A, et al. Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain : a Journal of Neurology. 134: 2664-76. PMID 21840889 DOI: 10.1093/brain/awr184  0.52
2011 Georgiev GA, Yokoi N, Koev K, Kutsarova E, Ivanova S, Kyumurkov A, Jordanova A, Krastev R, Lalchev Z. Surface chemistry study of the interactions of benzalkonium chloride with films of meibum, corneal cells lipids, and whole tears. Investigative Ophthalmology & Visual Science. 52: 4645-54. PMID 21474774 DOI: 10.1167/iovs.10-6271  0.52
2011 Berciano J, Baets J, Gallardo E, Zimoń M, García A, López-Laso E, Combarros O, Infante J, Timmerman V, Jordanova A, De Jonghe P. Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. Journal of Neurology. 258: 1413-21. PMID 21336783 DOI: 10.1007/s00415-011-5947-7  0.52
2010 Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Löscher W, Vondráček P, Seeman P, De Jonghe P, Van Dijck P, ... Jordanova A, et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. American Journal of Human Genetics. 87: 513-22. PMID 20920666 DOI: 10.1016/j.ajhg.2010.09.010  0.52
2010 Zimo? M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, ... ... Jordanova A, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain : a Journal of Neurology. 133: 1798-809. PMID 20460441 DOI: 10.1093/brain/awq109  0.52
2010 Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, et al. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain : a Journal of Neurology. 133: 1403-14. PMID 20371507 DOI: 10.1093/brain/awq057  0.48
2010 Kabzińska D, Strugalska-Cynowska H, Kostera-Pruszczyk A, Ryniewicz B, Posmyk R, Midro A, Seeman P, Báranková L, Zimoń M, Baets J, Timmerman V, Guergueltcheva V, Tournev I, Sarafov S, De Jonghe P, ... Jordanova A, et al. L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. Neurogenetics. 11: 357-66. PMID 20232219 DOI: 10.1007/s10048-010-0237-6  0.52
2009 Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Annals of Neurology. 66: 415-9. PMID 19798636 DOI: 10.1002/ana.21724  0.52
2009 Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain : a Journal of Neurology. 132: 2699-711. PMID 19651702 DOI: 10.1093/brain/awp198  0.52
2009 Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P. The SCN1A variant database: a novel research and diagnostic tool. Human Mutation. 30: E904-20. PMID 19585586 DOI: 10.1002/humu.21083  0.52
2009 Storkebaum E, Leitão-Gonçalves R, Godenschwege T, Nangle L, Mejia M, Bosmans I, Ooms T, Jacobs A, Van Dijck P, Yang XL, Schimmel P, Norga K, Timmerman V, Callaerts P, Jordanova A. Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proceedings of the National Academy of Sciences of the United States of America. 106: 11782-7. PMID 19561293 DOI: 10.1073/pnas.0905339106  0.52
2008 Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, ... ... Jordanova A, et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain : a Journal of Neurology. 131: 1217-27. PMID 18325928 DOI: 10.1093/brain/awn029  0.52
2007 Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, et al. Hereditary spastic paraplegia 3A associated with axonal neuropathy. Archives of Neurology. 64: 706-13. PMID 17502470 DOI: 10.1001/archneur.64.5.706  0.52
2006 Chakarova CF, Cherninkova S, Tournev I, Waseem N, Kaneva R, Jordanova A, Veraitch BK, Gill B, Colclough T, Nakova A, Oscar A, Mihaylova V, Nikolova-Hill A, Wright AF, Black GC, et al. Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Molecular Vision. 12: 909-14. PMID 16917484  0.4
2006 Irobi J, Dierick I, Jordanova A, Claeys KG, De Jonghe P, Timmerman V. Unraveling the genetics of distal hereditary motor neuronopathies. Neuromolecular Medicine. 8: 131-46. PMID 16775372 DOI: 10.1385/NMM:8:1:131  0.52
2006 Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain : a Journal of Neurology. 129: 2093-102. PMID 16714318 DOI: 10.1093/brain/awl126  0.52
2006 Guergueltcheva V, Tournev I, Bojinova V, Hantke J, Litvinenko I, Ishpekova B, Shmarov A, Petrova J, Jordanova A, Kalaydjieva L. Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies). Journal of Child Neurology. 21: 20-5. PMID 16551448 DOI: 10.1177/08830738060210010401  0.48
2006 Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Annals of Neurology. 59: 276-81. PMID 16437557 DOI: 10.1002/ana.20797  0.52
2006 Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nature Genetics. 38: 197-202. PMID 16429158 DOI: 10.1038/ng1727  0.52
2004 Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain : a Journal of Neurology. 127: 2124-30. PMID 15242882 DOI: 10.1093/brain/awh232  0.52
2004 Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, et al. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Annals of Neurology. 55: 713-20. PMID 15122712 DOI: 10.1002/ana.20094  0.52
2004 Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nature Genetics. 36: 597-601. PMID 15122253 DOI: 10.1038/ng1328  0.52
2003 Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. American Journal of Human Genetics. 73: 1423-30. PMID 14606043 DOI: 10.1086/379792  0.52
2003 Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, et al. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. Human Mutation. 22: 129-35. PMID 12872253 DOI: 10.1002/humu.10240  0.4
2003 Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. American Journal of Human Genetics. 72: 1293-9. PMID 12690580 DOI: 10.1086/375039  0.52
2002 Jordanova A, Kargaci V, Kremensky I, Litvinenko I, Uzunova M, Turnev I, Ishpekova B, Herzegfalvi A, Simeonova I, Kalaydjieva L. Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary. Neuromuscular Disorders : Nmd. 12: 378-85. PMID 12062256  0.4
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