Associated Papers
Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Waddington-Cruz M et al.
Neurology and Therapy, 2021
A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Neurology and Therapy, 2021
Androgen insensitivity syndrome.
Gulía C et al.
European Review for Medical and Pharmacological Sciences, 2018
Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset.
Santos D et al.
Annals of Clinical and Translational Neurology, 2017
Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M).
Santos D et al.
European Journal of Human Genetics : Ejhg, 2016
Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.
Topcu V et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
Biophysical analysis of normal transthyretin: implications for fibril formation in senile systemic amyloidosis.
Chung CM et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2001
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