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1 . Academic Journal
MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance
저자
by
Atemin, Slavena
;
Todorov, Tihomir
;
Maver, Ales
;
Chamova, Teodora
;
Georgieva, Bilyana
, et al.
소스
In
Neuromuscular Disorders
July 2021 31(7):633-641
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7 . Academic Journal
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study
저자
by
Vita, Giuseppe
;
Rizzo, Vincenzo
;
Russo, Massimo
;
Mazzeo, Anna
;
Gentile, Luca
, et al.
소스
In
The Lancet Neurology
January 2021 20(1):49-59
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7 . Academic Journal
Transthyretin amyloidosis: Testing strategies and model for center of excellence support
저자
by
Nakov, Radislav
;
Sarafov, Stayko
;
Gospodinova, Mariana
;
Kirov, Andrey
;
Chamova, Teodora
, et al.
소스
In
Clinica Chimica Acta
October 2020 509:228-234
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7 . Academic Journal
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.
저자
by
Núñez-Carpintero, Iker
;
Rigau, Maria
;
Bosio, Mattia
;
O’Connor, Emily
;
Spendiff, Sally
, et al.
소스
Nature Communications; 1/2/2024, Vol. 15 Issue 1, p1-15, 15p
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7 . Academic Journal
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation
저자
by
Chamova, Teodora
;
Guergueltcheva, Velina
;
Gospodinova, Mariana
;
Krause, Sabine
;
Cirak, Sebahattin
, et al.
소스
In
Neuromuscular Disorders
September 2015 25(9):713-718
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7 . Academic Journal
Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes.
저자
by
Tourtourikov, Ivan
;
Dabchev, Kristiyan
;
Todorov, Tihomir
;
Angelov, Teodor
;
Chamova, Teodora
, et al.
소스
Genes
. Nov2023, Vol. 14 Issue 11, p2023. 12p.
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7 . Academic Journal
Four-dimensional ultrasound calf muscle imaging in patients with genetic types of distal myopathy
저자
by
Titianova, Ekaterina
;
Chamova, Teodora
;
Guergueltcheva, Velina
;
Tournev, Ivailo
.
소스
In
Perspectives in Medicine
September 2012 1(1-12):431-434
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6 . Academic Journal
Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.
저자
by
Atemin, Slavena
;
Todorov, Tihomir
;
Tourtourikov, Ivan
;
Ivanova, Mariya B.
;
Chamova, Teodora
, et al.
소스
Journal of Genetics
. Jun2023, Vol. 102 Issue 1, p1-5. 5p.
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7 . Academic Journal
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.
저자
by
Chamova, Teodora
;
Gospodinova, Mariana
;
Asenov, Ognian
;
Todorov, Tihomir
;
Pavlova, Zornitsa
, et al.
소스
Frontiers in Neurology; 4/8/2022, Vol. 13, p1-10, 10p
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7 . Academic Journal
Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria.
저자
by
Pavlova, Zornitsa
;
Sarafov, Stayko
;
Todorov, Tihomir
;
Kirov, Andrey
;
Chamova, Teodora
, et al.
소스
Amyloid
. Dec 2021, Vol. 28 Issue 4, p219-225. 7p.
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