Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Authors: Luca Gentile, Igor Diemberger, Violaine Plante-Bordeneuve, Anna Mazzeo, Amir Dori, Marco Luigetti, Andrea Di Paolantonio, Angela Dispenzieri, Martha Grogan, Márcia Waddington Cruz, David Adams, Jocelyn Inamo, Arnt V Kristen, Calogero Lino Cirami, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass

Source: PLoS ONE, Vol 19, Iss 1, p e0292435 (2024)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0292435&type=printable; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/b4835a69d68c421cbbe3db9d170e24ee

Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center

Authors: Vanessa Cristina Cunha Sequeira, Maria Alice Penetra, Lisa Duarte, Fernanda Reis de Azevedo, Raphael Santa Rosa Sayegh, Roberto Coury Pedrosa, Márcia Waddington Cruz

Source: Arquivos de Neuro-Psiquiatria (2021)

Subject Terms: Amyloidosis, Amyloid Neuropathies, Familial, Anthropometry, Demography, Therapeutics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021005021201&tlng=en; https://doaj.org/toc/1678-4227

Access URL: https://doaj.org/article/1ab6cb1d6e934c46af11837e2d890c7f

Evaluation of Mortality During Long-Term Treatment with Tafamidis for Transthyretin Amyloidosis with Polyneuropathy: Clinical Trial Results up to 8.5 Years

Authors: Giampaolo Merlini, Teresa Coelho, Márcia Waddington Cruz, Huihua Li, Michelle Stewart, Ben Ebede

Source: Neurology and Therapy, Vol 9, Iss 1, Pp 105-115 (2020)

Subject Terms: Amyloidosis, Mortality, Polyneuropathy, Tafamidis, Transthyretin, Val30Met, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2193-8253; https://doaj.org/toc/2193-6536

Access URL: https://doaj.org/article/d3f649db1d9643eab617d4bb05bbdc9d

Eletroneuromiografia e potenciais evocados somatossensitivos na mielopatia pelo HTLV-I

Authors: MÁRCIA WADDINGTON CRUZ, ROSALIE BRANCO CORRÊA, MÁRZIA PUCCIONI-SOHLER, SÉRGIO AUGUSTO PEREIRA NOVIS

Source: Arquivos de Neuro-Psiquiatria, Vol 56, Iss 4, Pp 756-762 (1998)

Subject Terms: neuropatia periférica, mielopatia associada ao HTLV-I, eletroneuromiografia, potenciais evocados somatossensitivos, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000500009&tlng=pt; http://www.scielo.br/pdf/anp/v56n4/1628.pdf; https://doaj.org/toc/1678-4227

Access URL: https://doaj.org/article/5d083884f17e4526924cd2d765fefa88

Electroneuromyography in primary hypothyroidism

Authors: Márcia Waddington Cruz

Source: Arquivos de Neuro-Psiquiatria, Vol 53, Iss 3a, Pp 526-527 (1995)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1995000300028; https://doaj.org/toc/0004-282X; https://doaj.org/toc/1678-4227

Access URL: https://doaj.org/article/c82e9295e851415ea842fb460cb0a47c

Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology

Authors: Francisco de Assis Aquino Gondim, Amilton Antunes Barreira, Rinaldo Claudino, Márcia Waddington Cruz, Francisco Marcos Bezerra da Cunha, Marcos Raimundo Gomes de Freitas, Marcondes Cavalcante França Jr, Marcus Vinícius Magno Gonçalves, Wilson Marques Jr, Osvaldo José Moreira Nascimento, Acary Souza Bulle Oliveira, Raquel Campos Pereira, Camila Pupe, Francisco Tellechea Rotta, Pedro Schestatsky

Source: Arquivos de Neuro-Psiquiatria, Vol 76, Iss 3, Pp 200-208

Subject Terms: neuropatia de pequenas fibras, fibras nervosas amielínicas, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2018000300200&lng=en&tlng=en; https://doaj.org/toc/1678-4227

Access URL: https://doaj.org/article/0a092ced33d34a21ba2724601ed6caa7

Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS)

Authors: Márcia Waddington Cruz, Marcus Vinicius Pinto, Luiz Felipe Pinto, Renata Gervais, Moisés Dias, Carlos Perez, Rajiv Mundayat, Moh-Lim Ong, Roberto Coury Pedrosa, Débora Foguel

Source: Arquivos de Neuro-Psiquiatria, Vol 77, Iss 2, Pp 96-100

Subject Terms: Amyloidosis, amyloid neuropathies, familial, polyneuropathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2019000200096&lng=en&tlng=en; https://doaj.org/toc/1678-4227

Access URL: https://doaj.org/article/3cad4dfa144444e488dbf76795a0c821

Posicionamento sobre Diagnóstico e Tratamento da Amiloidose Cardíaca – 2021

Authors: Marcus V. Simões, Fabio Fernandes, Fabiana G. Marcondes-Braga, Philip Scheinberg, Edileide de Barros Correia, Luis Eduardo P. Rohde, Fernando Bacal, Silvia Marinho Martins Alves, Sandrigo Mangini, Andréia Biolo, Luis Beck-da-Silva, Roberta Shcolnik Szor, Wilson Marques Junior, Acary Souza Bulle Oliveira, Márcia Waddington Cruz, Bruno Vaz Kerges Bueno, Ludhmila Abrahão Hajjar, Aurora Felice Castro Issa, Felix José Alvarez Ramires, Otavio Rizzi Coelho Filho, André Schmidt, Ibraim Masciarelli Francisco Pinto, Carlos Eduardo Rochitte, Flávio Henrique Valicelli, Marcelo Luiz Campos Vieira, Cláudio Tinoco Mesquita, Celso Dario Ramos, José Soares-Junior, Minna Moreira Dias Romano, Wilson Mathias Junior, Marcelo Iório Garcia Junior, Marcelo Westerlund Montera, Marcelo Dantas Tavares de Melo, Sandra Marques e Silva, Pedro Manoel Marques Garibaldi, Aristóteles Comte de Alencar Neto, Renato Delascio Lopes, Diane Xavier de Ávila, Denizar Viana, José Francisco Kerr Saraiva, Manoel Fernandes Canesin, Glaucia Maria Moraes de Oliveira, Evandro Tinoco Mesquita

Source: Arquivos Brasileiros de Cardiologia

Subject Terms: Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2021001100561&tlng=pt; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2021001100561&tlng=en; https://doaj.org/toc/1678-4170

Access URL: https://doaj.org/article/706525dd49814e099a0008471a1640d9

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Frequency of Cardiovascular Involvement in Familial Amyloidotic Polyneuropathy in Brazilian Patients

Authors: Márcia Cavalcanti de Campos Queiroz, Roberto Coury Pedrosa, Amanda Cardoso Berensztejn, Basílio de Bragança Pereira, Emília Matos do Nascimento, Martha Maria Turano Duarte, Pedro Paulo Pereira-Junior, Marcia Waddington Cruz

Source: Arquivos Brasileiros de Cardiologia, Vol 105, Iss 5, Pp 503-509 (2015)

Subject Terms: Neuropatias Amilóides Familiares, Cardiomiopatias, Pré-Albumina, Eletrocardiografia, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2015002400503&lng=en&tlng=en; https://doaj.org/toc/1678-4170

Access URL: https://doaj.org/article/37334af2b87045f68288a27b59e32e95

Real-life experience with inotersen at CEPARM, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro

Authors: Moises Dias, Luiz Felipe Pinto, Marcus Vinícius Pinto, Renata Gervais, Paula Accioli, Gabriela Amorim, Mariana Guedes, Carlos Perez Gomes, Roberto Coury Pedrosa, Márcia Waddington-Cruz

Source: Arquivos de Neuro-Psiquiatria, Vol 82, Iss 04, Pp 001-007 (2024)

Subject Terms: Amyloidosis, Peripheral Nervous System Diseases, Amyloid Neuropathies, Familial, Mutation, Missense, Amyloidosis, Hereditary, Transthyretin-Related, Inotersen, Amiloidose, Doenças do Sistema Nervoso Periférico, Neuropatias Amiloides Familiares, Mutação de Sentido Incorreto, Amiloidose Neuropática Hereditária, Inotersena, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/0004-282X; https://doaj.org/toc/1678-4227

Access URL: https://doaj.org/article/53989f511b9f4e7ca15a62d8b951e699

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey

Authors: Juan González-Moreno, Angela Dispenzieri, Martha Grogan, Teresa Coelho, Ivailo Tournev, Márcia Waddington-Cruz, Jonas Wixner, Igor Diemberger, Pablo Garcia-Pavia, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, the THAOS investigators

Source: Cardiology and Therapy, Vol 13, Iss 1, Pp 117-135 (2023)

Subject Terms: Amyloidosis, Cardiomyopathy, Mixed phenotype, Polyneuropathy, Transthyretin, THAOS, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2193-8261; https://doaj.org/toc/2193-6544

Access URL: https://doaj.org/article/21e307b3d7f64d4388aae45efd6d31e5

A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Authors: Luca Gentile, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Márcia Waddington-Cruz, Arnt Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Eve Cariou, Mathew S. Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Alejandra Gonzalez Duarte, Martha Grogan, Anna Mazzeo, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, the THAOS investigators

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)

Subject Terms: Amyloidosis, Cardiomyopathy, Polyneuropathy, Transthyretin, Registry, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/f0832100674d4cab8c8856c8ba65b280

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

Authors: Marcus Vinicius Pinto, Marcondes Cavalcante França, Marcus Vinicius Magno Gonçalves, Marcela Câmara Machado-Costa, Marcos Raimundo Gomes de Freitas, Francisco de Assis Aquino Gondim, Carlo Domenico Marrone, Alberto Rolim Muro Martinez, Carolina Lavigne Moreira, Osvaldo J. M. Nascimento, Anna Paula Paranhos Covaleski, Acary Souza Bulle de Oliveira, Camila Castelo Branco Pupe, Marcia Maria Jardim Rodrigues, Francisco Tellechea Rotta, Rosana Herminia Scola, Wilson Marques, Márcia Waddington-Cruz

Source: Arquivos de Neuro-Psiquiatria, Vol 81, Iss 03, Pp 308-321 (2023)

Subject Terms: Amyloidosis, Peripheral Nervous System Diseases, Amyloid Neuropathies, Familial, Amiloidoses, Doenças do Sistema Nervoso Periférico, Neuropatias Amiloides Familiares, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/0004-282X; https://doaj.org/toc/1678-4227

Access URL: https://doaj.org/article/6b432dc2341e4394aae69773f46a71f4

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update

Authors: Angela Dispenzieri, Teresa Coelho, Isabel Conceição, Márcia Waddington-Cruz, Jonas Wixner, Arnt V. Kristen, Claudio Rapezzi, Violaine Planté-Bordeneuve, Juan Gonzalez-Moreno, Mathew S. Maurer, Martha Grogan, Doug Chapman, Leslie Amass, the THAOS investigators

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

Subject Terms: Amyloidosis, Cardiomyopathy, Polyneuropathy, Transthyretin, Registry, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/9781169f9482467fa0d76aa446549e0d

A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis

Authors: Teresa Coelho, David Adams, Isabel Conceição, Márcia Waddington-Cruz, Hartmut H. Schmidt, Juan Buades, Josep Campistol, John L. Berk, Michael Polydefkis, Jing Jing Wang, Jihong Chen, Marianne T. Sweetser, Jared Gollob, Ole B. Suhr

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

Subject Terms: ATTR amyloidosis, Cardiomyopathy, Patisiran, Polyneuropathy, RNA interference, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01399-4; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/043b3f0175b643a0af6f21c8079884d9

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series

Authors: Márcia Waddington-Cruz, Hartmut Schmidt, Marc F. Botteman, John A. Carter, Michelle Stewart, Markay Hopps, Shari Fallet, Leslie Amass

Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

Subject Terms: Transthyretin amyloidosis, Peripheral neuropathy, Case series, Rare disease, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1000-1; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/e31822a8e501426f9a2e61823bc91fb3