ProfileOfResearchers

TITLE: 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
AUTHORS: Miguel Oliveira Santos; Pedro Ninitas; Isabel Conceicao;
PUBLISHED: 2018, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 28, ISSUE: 12

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Scopus

WOS

TITLE: Inotersen improved quality of life and neuropathy measures across levels of transthyretin reduction (NEURO-TTR) Full Text
AUTHORS: 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;
PUBLISHED: 2018, SOURCE: Annual Meeting of the Peripheral-Nerve-Society in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, VOLUME: 23, ISSUE: 4

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WOS

TITLE: Safety and efficacy of inotersen in patients with hereditary transthyretin amyloidosis with polyneuropathy (NEURO-TTR) Full Text
AUTHORS: 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;
PUBLISHED: 2018, SOURCE: Annual Meeting of the Peripheral-Nerve-Society in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, VOLUME: 23, ISSUE: 4

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WOS

TITLE: 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
AUTHORS: 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;
PUBLISHED: 2017, SOURCE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24

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WOS

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

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WOS

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

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WOS

TITLE: EFFECT OF PATISIRAN ON NERVE FIBER DENSITY AND AMYLOID CONTENT IN SKIN: RESULTS FROM PHASE 2 OPEN LABEL EXTENSION (OLE) STUDY IN HATTR AMYLOIDOSIS Full Text
AUTHORS: Polydefkis, M; Ebenezer, G; Adams, D; Coelho, T; Conceicao, I; Waddington Cruz, MW; Schmidt, H; Buades, J; Campistol, J; Pouget, J; Berk, J; Partisano, A; Chen, J; Gollob, J; Suhr, O;
PUBLISHED: 2017, SOURCE: Peripheral-Nerve-Society Meeting in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, VOLUME: 22, ISSUE: 3

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WOS