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TÃTULO: Baseline characteristics of patients with hereditary transthyretin (hATTR) amyloidosis with polyneuropathy enrolled in the phase 3 study NEURO-TTR demonstrate significant disease burden Full Text
AUTORES: Conceicao, I; Berk, J; Wang, A; Coelho, T; Waddington Cruz, MW; Polydefkis, M; Dyck, P; Scheinberg, M; Plante Bordeneuve, V; Barroso, F; Adams, D; Brannagan, T; Whelan, C; Drachman, B; Heitner, S; Schmidt, H; Vita, G; Campistol, J; Gorevic, P; Souza Bulle Oliveira, ASB; Monia, B; Sikora S Kessler; Gertz, M; Benson, M; Merlini, G; ...Mais
PUBLICAÇÃO: 2018, FONTE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25

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TÃTULO: Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy Full Text
AUTORES: Miguel Oliveira Santos; Teresinha Evangelista; Isabel Conceicao;
PUBLICAÇÃO: 2018, FONTE: NEUROMUSCULAR DISORDERS, VOLUME: 28, NÚMERO: 11

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TÃTULO: Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients Full Text
AUTORES: Conceicao, I; Miranda, B; Castro, J; de Carvalho, M;
PUBLICAÇÃO: 2018, FONTE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25, NÚMERO: 11

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TÃTULO: Evaluating the Efficacy of Patisiran in Patients with hATTR Amyloidosis in the Phase 2 OLE Trial and the Phase 3 Trial Full Text
AUTORES: John L Berk; Isabel Conceicao; Marcia Waddington Cruz; Michael Polydefkis; Teresa Coelho; Angela M Partisano; Jihong H Chen; Marianne Sweetser; Jarad Gollob; Ole B Suhr;
PUBLICAÇÃO: 2018, FONTE: 47th Annual Meeting of the Child-Neurology-Society (CNS) in ANNALS OF NEUROLOGY, VOLUME: 84

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TÃTULO: Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene Full Text
AUTORES: Miguel Oliveira Santos; Pedro Ninitas; Isabel Conceicao;
PUBLICAÇÃO: 2018, FONTE: NEUROMUSCULAR DISORDERS, VOLUME: 28, NÚMERO: 12

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TÃTULO: Inotersen improved quality of life and neuropathy measures across levels of transthyretin reduction (NEURO-TTR) Full Text
AUTORES: Peter Dyck; Annabel Wang; Teresa Coelho; Marcia Waddington Cruz; Michael Polydefkis; Morie Gertz; Morton Scheinberg; Violaine Plante Bordeneuve; John Berk; Fabio Barroso; Thomas Brannagan; Sami Khella; Isabel Conceicao; Peter Gorevic; Brett Monia; Merrill Benson;
PUBLICAÇÃO: 2018, FONTE: Annual Meeting of the Peripheral-Nerve-Society in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, VOLUME: 23, NÚMERO: 4

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TÃTULO: Safety and efficacy of inotersen in patients with hereditary transthyretin amyloidosis with polyneuropathy (NEURO-TTR) Full Text
AUTORES: Morie Gertz; Annabel Wang; Teresa Coelho; Marcia Waddington Cruz; Michael Polydefkis; Peter Dyck; Morton Scheinberg; Violaine Plante Bordeneuve; John Berk; Fabio Barroso; Thomas Brannagan; Sami Khella; Isabel Conceicao; Peter Gorevic; Brett Monia; Merrill Benson;
PUBLICAÇÃO: 2018, FONTE: Annual Meeting of the Peripheral-Nerve-Society in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, VOLUME: 23, NÚMERO: 4

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TÃTULO: Phase 2 open-label extension (OLE) study of patisiran with or without a TTR stabilizer for the treatment of hereditary ATTR (hATTR) amyloidosis with polyneuropathy Full Text
AUTORES: Adams, D; Coelho, T; Conceicao, I; Waddington W Cruz; Schmidt, H; Buades, J; Campistol, J; Pouget, J; Berk, J; Ziyadeh, N; Partisano, A; Chen, J; Sweetser, M; Gollob, J; Suhr, O;
PUBLICAÇÃO: 2017, FONTE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24

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TÃTULO: Transthyretin familial amyloid polyneuropathy: The neuropathy progression on treated patients compared with natural disease progression Full Text
AUTORES: Miranda, B; Castro, J; Conceicao, I;
PUBLICAÇÃO: 2017, FONTE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24

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TÃTULO: Transthyretin-related familial amyloid polyneuropathy: Demographic and phenotypical characterization of a patients' cohort (followed) in a Portuguese Center Full Text
AUTORES: Oliveira O Santos; Ines, M; Conceicao, I;
PUBLICAÇÃO: 2017, FONTE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24

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