Marcia Waddington-Cruz
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Explore the profile of Marcia Waddington-Cruz including associated specialties, affiliations and a list of published articles.
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42
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2280
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Recent Articles
1.
Muchtar E, Grogan M, Aus dem Siepen F, Waddington-Cruz M, Misumi Y, Carroll A, et al.
Amyloid
. 2025 Feb;
:1-24.
PMID: 39985185
Systemic amyloidosis refers to a group of protein misfolding disorders resulting in organ deposition with amyloid, leading to organ dysfunction, ultimately resulting in organ failure and death if not successfully...
2.
Pinto L, Pinto M, Accioli P, Amorim G, Rosa R, Dias M, et al.
Arq Neuropsiquiatr
. 2025 Jan;
83(1):1-6.
PMID: 39814002
Background: Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN)...
3.
Wixner J, Berk J, Adams D, Polydefkis M, Conceicao I, Attarian S, et al.
Amyloid
. 2024 Nov;
32(1):29-38.
PMID: 39552152
Background: The NEURO-TTRansform trial showed that after 66 weeks of treatment, eplontersen significantly reduced neuropathic impairment and improved quality of life (QoL) in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy...
4.
Fernandes P, Silva M, Waddington-Cruz M, Gomes C
J Bras Nefrol
. 2024 Aug;
46(4):e20240016.
PMID: 39101566
Introduction: Hereditary transthyretin amyloidosis (ATTRv) is a severe autosomal dominant systemic disease. It affects the peripheral and autonomic nervous systems, heart, kidneys, and eyes. Amyloid deposition has been demonstrated in...
5.
Martins L, Ferreira P, Leitao Dos Santos O, Martins L, Cabral Fernandes Barroso L, Pereira H, et al.
J Biol Chem
. 2024 Jun;
300(8):107495.
PMID: 38925327
Transthyretin (TTR) is an homotetrameric protein involved in the transport of thyroxine. More than 150 different mutations have been described in the TTR gene, several of them associated with familial...
6.
Dias M, Pinto L, Pinto M, Gervais R, Accioli P, Amorim G, et al.
Arq Neuropsiquiatr
. 2024 Apr;
82(4):1-7.
PMID: 38579737
Background: Hereditary transthyretin amyloidosis (ATTRv) is an inherited, progressive, and fatal disease still largely underdiagnosed. Mutations in the () gene cause the TTR protein to destabilize, misfold, aggregate, and deposit...
7.
Gonzalez-Moreno J, Dispenzieri A, Grogan M, Coelho T, Tournev I, Waddington-Cruz M, et al.
Cardiol Ther
. 2023 Dec;
13(1):117-135.
PMID: 38117424
Introduction: Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described. Methods: This study describes the mixed phenotype cohort in...
8.
Gentile L, Coelho T, Dispenzieri A, Conceicao I, Waddington-Cruz M, Kristen A, et al.
Orphanet J Rare Dis
. 2023 Nov;
18(1):350.
PMID: 37946256
Background: Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in various tissues and organs. Methods:...
9.
Adams D, Sekijima Y, Conceicao I, Waddington-Cruz M, Polydefkis M, Echaniz-Laguna A, et al.
Lancet Neurol
. 2023 Oct;
22(11):1061-1074.
PMID: 37863593
Hereditary transthyretin (TTR) amyloid polyneuropathy is an autosomal dominant life-threatening disorder. TTR is produced mainly by the liver but also by the choroid plexus and retinal pigment epithelium. Detailed clinical...
10.
Ando Y, Waddington-Cruz M, Sekijima Y, Koike H, Ueda M, Konishi H, et al.
Orphanet J Rare Dis
. 2023 Oct;
18(1):323.
PMID: 37828588
Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. Patients present with diverse symptoms related to sensory, motor, and autonomic neuropathy,...