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Amyloid
The Journal of Protein Folding Disorders
Volume 26, 2019 - Issue 4
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Articles

Founder effect of the Glu89Gln TTR mutation in the Bulgarian population

Andrey KirovGenetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria; Correspondence[email protected]
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Stayko SarafovClinic of Nervous Diseases, UMBAL Aleksandrovska, Sofia, Bulgaria; ;Department of Neurology, Medical University Sofia, Sofia, Bulgaria; View further author information
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Zornitza PavlovaGenetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria; ;Genome Center “Bulgaria”, Sofia, Bulgaria; ;Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; View further author information
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Tihomir TodorovGenetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria; ;Genome Center “Bulgaria”, Sofia, Bulgaria; View further author information
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Teodora ChamovaClinic of Nervous Diseases, UMBAL Aleksandrovska, Sofia, Bulgaria; View further author information
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Mariana GospodinovaClinic of Cardiology, MVR Hospital, Sofia, Bulgaria; View further author information
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Ivailo TournevClinic of Nervous Diseases, UMBAL Aleksandrovska, Sofia, Bulgaria; ;Department for Cognitive Science and Psychology, New Bulgarian University, Sofia, BulgariaView further author information
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Vanyo MitevDepartment of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; View further author information
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Albena TodorovaGenetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria; ;Genome Center “Bulgaria”, Sofia, Bulgaria; ;Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; View further author information
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Pages 181-185 | Received 31 Aug 2018, Accepted 18 Jun 2019, Published online: 29 Jul 2019

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Fernando de Frutos, Juan Pablo Ochoa, Cristina Gómez-González, David Reyes-Leiva, Juan I. Aróstegui, Carlos Casasnovas, Roberto Barriales-Villa, Teresa Sevilla, Esther Gonzalez-Lopez, Elvira Ramil, Lucia Galan, Jose González-Costello, Ana García-Álvarez, Ricard Rojas-Garcia, Maria Angeles Espinosa & Pablo Garcia-Pavia. (2023) Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain. Amyloid 30:2, pages 199-207.
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Zornitsa Pavlova, Stayko Sarafov, Tihomir Todorov, Andrey Kirov, Teodora Chamova, Mariana Gospodinova, Ivailo Tournev, Vanyo Mitev & Albena Todorova. (2021) Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria. Amyloid 28:4, pages 219-225.
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Articles from other publishers (13)

Mariana Gospodinova, Sashka Zhelyazkova, Teodora Chamova, Ognyan Asenov, Zornitsa Pavlova, Tihomir Todorov, Dilyana Mikova, Yordan Palashev, Ivan Gruev, Atanas Kundurdjiev, Albena Todorova & Ivailo Tournev. (2023) Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype. Frontiers in Cardiovascular Medicine 10.
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Francesco Mazzarotto, Alessia Argirò, Mattia Zampieri, Chiara Magri, Irene Giotti, Beatrice Boschi, Sabrina Frusconi, Massimo Gennarelli, Joel Buxbaum, Renato Polimanti, Iacopo Olivotto, Federico Perfetto & Francesco Cappelli. (2022) Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy. European Journal of Human Genetics 31:5, pages 541-547.
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Ketty Dugo, Francesca Bruno, Valentina Sturiale, Desiree Brancato, Salvatore Saccone & Concetta Federico. (2022) Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy. Biomedicines 10:10, pages 2394.
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Teodora Chamova, Mariana Gospodinova, Ognian Asenov, Tihomir Todorov, Zornitsa Pavlova, Andrey Kirov, Sylvia Cherninkova, Kristina Kastreva, Ani Taneva, Stanislava Blagoeva, Sashka Zhelyazkova, Plamen Antimov, Kaloian Chobanov, Albena Todorova & Ivailo Tournev. (2022) Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria. Frontiers in Neurology 13.
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Chukwuemeka A. Obi, William C. Mostertz, Jan M. Griffin & Daniel P. Judge. (2022) ATTR Epidemiology, Genetics, and Prognostic Factors. Methodist DeBakey Cardiovascular Journal 18:2, pages 17-26.
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Georgios Koutsis, Efstathios Kastritis, Zoi Kontogeorgiou, Chrisoula Kartanou, Panagiotis Kokotis, Michail Rentzos, Marianthi Breza, Kleopas A. Kleopa, Kyproula Christodoulou, Evangelos Oikonomou, Aris Anastasakis, Panagiotis Angelidakis, Ioannis Sarmas, Odysseas Kargiotis, Minas Tzagournissakis, Ioannis Zaganas, Emmanouil Foukarakis, Vasileios Sachpekidis, Alexandra Papathoma, Marios Panas, Leonidas Stefanis, Meletios Athanasios Dimopoulos & Georgia Karadima. (2021) Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country. Neuromuscular Disorders 31:12, pages 1251-1258.
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Luca Gentile, Ivailo Tournev, Leslie Amass, Doug Chapman, Anna Mazzeo, Fabio Barroso, Johan van Cleemput, Hartmut Schmidt, Burkhard Gess, Pablo Garcia Pavia, José Luis Muñoz Blanco, Claudio Rapezzi, Giuseppe Vita, Giampaolo Merlini, Marco Luigetti, Yesim Parman, Mathew Maurer & Samantha LoRusso. (2021) Phenotypic Differences of Glu89Gln Genotype in ATTR Amyloidosis From Endemic Loci: Update From THAOS. Cardiology and Therapy 10:2, pages 481-490.
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Harry Pachajoa, Maria Amparo Acosta, Carlos J. Alméciga‐Díaz, Yoseth Ariza, Lorena Diaz‐Ordoñez, Gabriela Caicedo‐Herrera, Daniel Cuartas, Jose Antonio Nastasi‐Catanese, Diana Ramírez‐Montaño, Yiseth Katherine Silva, Lina Moreno, Jose Satizabal, Natalia Garcia, Jorge Montoya, Carlos Prada, Gloria Porras, Harvy Velasco & Estephania Candelo. (2021) Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia . American Journal of Medical Genetics Part C: Seminars in Medical Genetics 187:3, pages 388-395.
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Massimo Russo, Francescopaolo Cucinotta, Luca Gentile, Gian Maria Fabrizi, Federica Taioli, Giuseppe Vita, Antonio Toscano & Anna Mazzeo. (2021) Very Early Onset of ATTRE89Q Amyloidosis in a Homozygous Patient. The Open Neurology Journal 15:1, pages 21-24.
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Radislav Nakov, Ole B. Suhr, Gianluca Ianiro, Juozas Kupcinskas, Jonathon P. Segal, Dan L. Dumitrascu, Henriette Heinrich, Ivana Mikolasevic, Milica Stojkovic-Lalosevic, Ivan Barbov, Stayko Sarafov, Ivailo Tournev, Ventsislav Nakov & Jonas Wixner. (2020) Recommendations for the diagnosis and management of transthyretin amyloidosis with gastrointestinal manifestations. European Journal of Gastroenterology & Hepatology 33:5, pages 613-622.
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Radislav Nakov, Stayko Sarafov, Mariana Gospodinova, Andrey Kirov, Teodora Chamova, Tihomir Todorov, Albena Todorova & Ivailo Tournev. (2020) Transthyretin amyloidosis: Testing strategies and model for center of excellence support. Clinica Chimica Acta 509, pages 228-234.
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Mariana Gospodinova, Stayko Sarafov, Teodora Chamova, Andrey Kirov, Tihomir Todorov, Radislav Nakov, Albena Todorova, Stefan Denchev & Ivailo Tournev. (2020) Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutation. Journal of Cardiovascular Medicine 21:9, pages 688-695.
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Michaela Auer-Grumbach, Rene Rettl, Klemens Ablasser, Hermine Agis, Christian Beetz, Franz Duca, Martin Gattermeier, Franz Glaser, Markus Hacker, Renate Kain, Birgit Kaufmann, Gabor G. Kovacs, Christian Lampl, Neira Ljevakovic, Jutta Nagele, Gerhard Pölzl, Stefan Quasthoff, Bernadette Raimann, Helmut Rauschka, Christian Reiter, Volha Skrahina, Othmar Schuhfried, Raute Sunder-Plassmann, Nicolas D. Verheyen, Julia Wanschitz, Thomas Weber, Reinhard Windhager, Raphael Wurm, Friedrich Zimprich, Wolfgang N. Löscher & Diana Bonderman. (2020) Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots. Journal of Clinical Medicine 9:7, pages 2234.
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