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Marcia Waddington-Cruz

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Articles 42
Citations 2280
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Recent Articles
11.
Coelho T, Dispenzieri A, Grogan M, Conceicao I, Waddington-Cruz M, Kristen A, et al.
Amyloid . 2023 Jul; 30(4):445-448. PMID: 37459334
No abstract available.
12.
Pinto M, Franca Jr M, Goncalves M, Machado-Costa M, Freitas M, de Assis Aquino Gondim F, et al.
Arq Neuropsiquiatr . 2023 Apr; 81(3):308-321. PMID: 37059440
Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the gene. Hereditary transthyretin amyloidosis with peripheral...
13.
Plante-Bordeneuve V, Gorram F, Olsson M, Anan I, Mazzeo A, Gentile L, et al.
Amyloid . 2023 Mar; 30(3):313-320. PMID: 36994840
Background: In hereditary transthyretin amyloidosis (ATTRv), early manifestation and age at onset (AO) may vary strikingly. We assessed the disease'risk (penetrance), AO and initial features in ATTRv families to gain...
14.
Brannagan 3rd T, Berk J, Gillmore J, Maurer M, Waddington-Cruz M, Fontana M, et al.
J Peripher Nerv Syst . 2022 Nov; 27(4):228-237. PMID: 36345805
Transthyretin-mediated amyloidosis (ATTR) is a rare, under-recognized, progressively debilitating, fatal disease caused by the aggregation and extracellular deposition of amyloid transthyretin (TTR) fibrils in multiple organs and tissues throughout the...
15.
Coelho T, Conceicao I, Waddington-Cruz M, Keohane D, Sultan M, Chapman D, et al.
Amyloid . 2022 Jun; 29(4):228-236. PMID: 35730447
Background: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) results from pathogenic mutations in the transthyretin () gene. This analysis aimed to better understand ATTRv amyloidosis development in asymptomatic gene carriers. Methods: The...
16.
Dispenzieri A, Coelho T, Conceicao I, Waddington-Cruz M, Wixner J, Kristen A, et al.
Orphanet J Rare Dis . 2022 Jun; 17(1):236. PMID: 35717381
Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other...
17.
Barroso F, Coelho T, Dispenzieri A, Conceicao I, Waddington-Cruz M, Wixner J, et al.
Amyloid . 2022 Apr; 29(3):175-183. PMID: 35451899
Background: Autonomic dysfunction is common in transthyretin amyloidosis (ATTR amyloidosis), but its frequency, characteristics, and quality-of-life (QoL) impact are not well understood. Methods: The Transthyretin Amyloidosis Outcomes Survey (THAOS) is...
18.
Nativi-Nicolau J, Siu A, Dispenzieri A, Maurer M, Rapezzi C, Kristen A, et al.
JACC CardioOncol . 2021 Nov; 3(4):537-546. PMID: 34729526
Background: Transthyretin amyloid cardiomyopathy results from the accumulation of wild-type (ATTRwt) or variant (ATTRv) transthyretin amyloid fibrils in the myocardium. THAOS (Transthyretin Amyloidosis Outcomes Survey) is a global, longitudinal, observational...
19.
Yarlas A, Lovley A, McCausland K, Brown D, Vera-Llonch M, Conceicao I, et al.
Neurol Ther . 2021 Aug; 10(2):865-886. PMID: 34355354
Introduction: Patients with hereditary transthyretin amyloidosis associated with polyneuropathy (ATTRv-PN) experience deterioration in health-related quality of life (HRQOL) as the disease progresses. Findings from the randomized placebo-controlled phase III NEURO-TTR...
20.
Waddington-Cruz M, Wixner J, Amass L, Kiszko J, Chapman D, Ando Y
Neurol Ther . 2021 May; 10(2):753-766. PMID: 34024024
Introduction: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a clinically heterogeneous disease caused by mutations in the transthyretin (TTR) gene. The most common mutation, Val30Met, can manifest as an early- or...