Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis

[1] Gertz MA(2015)Pathophysiology and treatment of cardiac amyloidosis Nat Rev Cardiol 12 91-102

[2] Dispenzieri A(2015)Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments J Neurol Neurosurg Psychiatry 86 1036-1043

[3] Sher T(2016)Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) Eur J Hum Genet 24 756-760

[4] Sekijima Y(2017)Familial amyloid polyneuropathy in Portugal: new genes modulating age-at-onset Ann Clin Transl Neurol 4 98-105

[5] Santos D(2009)Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met J Neurol Sci 284 158-162

[6] Coelho T(2019)C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients Ann Clin Transl Neurol 6 748-754

[7] Alves-Ferreira M(2016)Nonbiopsy diagnosis of cardiac transthyretin amyloidosis Circulation 133 2404-2412

[8] Sequeiros J(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology Genet Med 17 405-424

[9] Mendonça D(2017)Blood proteomic profiling in inherited (ATTRm) and acquired (ATTRwt) forms of transthyretin-associated cardiac amyloidosis J Proteome Res 16 1659-1668

[10] Alonso I(2018)Co-precipitation molecules hemopexin and transferrin may be key molecules for fibrillogenesis in TTR V30M amyloidogenesis Transgenic Res 27 15-23

[1] Gertz MA(2015)Pathophysiology and treatment of cardiac amyloidosis Nat Rev Cardiol 12 91-102

[2] Dispenzieri A(2015)Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments J Neurol Neurosurg Psychiatry 86 1036-1043

[3] Sher T(2016)Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) Eur J Hum Genet 24 756-760

[4] Sekijima Y(2017)Familial amyloid polyneuropathy in Portugal: new genes modulating age-at-onset Ann Clin Transl Neurol 4 98-105

[5] Santos D(2009)Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met J Neurol Sci 284 158-162

[6] Coelho T(2019)C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients Ann Clin Transl Neurol 6 748-754

[7] Alves-Ferreira M(2016)Nonbiopsy diagnosis of cardiac transthyretin amyloidosis Circulation 133 2404-2412

[8] Sequeiros J(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology Genet Med 17 405-424

[9] Mendonça D(2017)Blood proteomic profiling in inherited (ATTRm) and acquired (ATTRwt) forms of transthyretin-associated cardiac amyloidosis J Proteome Res 16 1659-1668

[10] Alonso I(2018)Co-precipitation molecules hemopexin and transferrin may be key molecules for fibrillogenesis in TTR V30M amyloidogenesis Transgenic Res 27 15-23