Associated Papers
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Spontaneous Partial Rupture of the Long Proximal Biceps Tendon in a Patient with Variant Transthyretin Amyloid Cardiomyopathy Due to a Heterozygous c148G>A p.Val50Leu Mutation.
Kalaycı B et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Clinical and Biochemical Characterization of Hereditary ATTR Amyloidosis Caused by a Novel Transthyretin Variant V121A (p.V141A).
Yoshinaga T et al.
International Journal of Molecular Sciences, 2025
Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation.
Jiao H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.
He X et al.
Orphanet Journal of Rare Diseases, 2022
Late-Onset Hereditary Transthyretin Amyloidosis Val30Met in an Elderly Person in a Non-Endemic Area.
Wang S et al.
International Medical Case Reports Journal, 2022
A Study of Familial Amyloid Polyneuropathy Induced by the TTR Val30Leu Mutation in China.
He S et al.
European Neurology, 2022
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.
Chen H et al.
Scientific Reports, 2016
The pathological and biochemical identification of possible seed-lesions of transmitted transthyretin amyloidosis after domino liver transplantation.
Yoshinaga T et al.
The Journal of Pathology. Clinical Research, 2016
High prevalence of ATTR amyloidosis in endomyocardial biopsy-proven cardiac amyloidosis patients.
Nakagawa M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2013
A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.
Olsson M et al.
Bmc Medical Genetics, 2010
Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden.
Suhr OB et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2009