Isabel Maria dos Santos Conceicao
AuthID: R-001-F29
31
TITLE: Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands Full Text
AUTHORS: Catarina F Falcao de Campos; Miguel O Oliveira Santos; Rafael Roque; Isabel Conceicao; Mamede de Carvalho;
PUBLISHED: 2019, SOURCE: CASE REPORTS IN NEUROLOGICAL MEDICINE, VOLUME: 2019
AUTHORS: Catarina F Falcao de Campos; Miguel O Oliveira Santos; Rafael Roque; Isabel Conceicao; Mamede de Carvalho;
PUBLISHED: 2019, SOURCE: CASE REPORTS IN NEUROLOGICAL MEDICINE, VOLUME: 2019
INDEXED IN: 
WOS
WOS32
TITLE: Response: Suhr OB: commentary to Isabel Conceicao et al. early diagnosis through targeted follow-up of identified carriers of TTR gene mutations Full Text
AUTHORS: Isabel Conceicao;
PUBLISHED: 2019, SOURCE: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 26, ISSUE: 4
AUTHORS: Isabel Conceicao;
PUBLISHED: 2019, SOURCE: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 26, ISSUE: 4
INDEXED IN: WOS
WOS33
TITLE: 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
AUTHORS: 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; ...More
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
AUTHORS: 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; ...More
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
INDEXED IN: WOS
WOS34
TITLE: Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy Full Text
AUTHORS: Miguel Oliveira Santos; Teresinha Evangelista; Isabel Conceicao;
PUBLISHED: 2018, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 28, ISSUE: 11
AUTHORS: Miguel Oliveira Santos; Teresinha Evangelista; Isabel Conceicao;
PUBLISHED: 2018, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 28, ISSUE: 11
INDEXED IN: 
Scopus WOS
Scopus WOS35
TITLE: Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients Full Text
AUTHORS: Conceicao, I; Miranda, B; Castro, J; de Carvalho, M;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25, ISSUE: 11
AUTHORS: Conceicao, I; Miranda, B; Castro, J; de Carvalho, M;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25, ISSUE: 11
INDEXED IN: WOS
WOS36
TITLE: Evaluating the Efficacy of Patisiran in Patients with hATTR Amyloidosis in the Phase 2 OLE Trial and the Phase 3 Trial Full Text
AUTHORS: 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;
PUBLISHED: 2018, SOURCE: 47th Annual Meeting of the Child-Neurology-Society (CNS) in ANNALS OF NEUROLOGY, VOLUME: 84
AUTHORS: 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;
PUBLISHED: 2018, SOURCE: 47th Annual Meeting of the Child-Neurology-Society (CNS) in ANNALS OF NEUROLOGY, VOLUME: 84
INDEXED IN: WOS
WOS37
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
AUTHORS: Miguel Oliveira Santos; Pedro Ninitas; Isabel Conceicao;
PUBLISHED: 2018, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 28, ISSUE: 12
INDEXED IN: Scopus WOS
Scopus WOS38
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
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
INDEXED IN: WOS
WOS39
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
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
INDEXED IN: WOS
WOS40
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
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
INDEXED IN: WOS
WOS