DYT2 screening in early-onset isolated dystonia
Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term “DYT2 dystonia”. Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progr...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Carecchio, Miryam [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017 |
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| Schlagwörter: |
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| Umfang: |
3 |
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| Übergeordnetes Werk: |
Enthalten in: Biologically active vallesamine, strychnan, and rhazinilam alkaloids from - Lim, Jun-Lee ELSEVIER, 2015, ejpn : official journal of the European Paediatric Neurology Society, Burlington, Mass |
|---|---|
| Übergeordnetes Werk: |
volume:21 ; year:2017 ; number:2 ; pages:269-271 ; extent:3 |
| Links: |
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| DOI / URN: |
10.1016/j.ejpn.2016.10.001 |
|---|
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ELV025538853 |
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| 520 | |a Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term “DYT2 dystonia”. Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood. | ||
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10.1016/j.ejpn.2016.10.001 doi GBV00000000000426.pica (DE-627)ELV025538853 (ELSEVIER)S1090-3798(16)30183-0 DE-627 ger DE-627 rakwb eng 580 540 VZ BIODIV DE-30 fid 42.00 bkl Carecchio, Miryam verfasserin aut DYT2 screening in early-onset isolated dystonia 2017 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term “DYT2 dystonia”. Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood. DYT2 Elsevier Isolated Elsevier Dystonia Elsevier Recessive Elsevier Pediatric Elsevier <ce:italic>HPCA</ce:italic> Elsevier Reale, Chiara oth Invernizzi, Federica oth Monti, Valentina oth Petrucci, Simona oth Ginevrino, Monia oth Morgante, Francesca oth Zorzi, Giovanna oth Zibordi, Federica oth Bentivoglio, Anna Rita oth Valente, Enza Maria oth Nardocci, Nardo oth Garavaglia, Barbara oth Enthalten in Harcourt Lim, Jun-Lee ELSEVIER Biologically active vallesamine, strychnan, and rhazinilam alkaloids from 2015 ejpn : official journal of the European Paediatric Neurology Society Burlington, Mass (DE-627)ELV001176439 volume:21 year:2017 number:2 pages:269-271 extent:3 https://doi.org/10.1016/j.ejpn.2016.10.001 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 42.00 Biologie: Allgemeines VZ AR 21 2017 2 269-271 3 |
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10.1016/j.ejpn.2016.10.001 doi GBV00000000000426.pica (DE-627)ELV025538853 (ELSEVIER)S1090-3798(16)30183-0 DE-627 ger DE-627 rakwb eng 580 540 VZ BIODIV DE-30 fid 42.00 bkl Carecchio, Miryam verfasserin aut DYT2 screening in early-onset isolated dystonia 2017 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term “DYT2 dystonia”. Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood. DYT2 Elsevier Isolated Elsevier Dystonia Elsevier Recessive Elsevier Pediatric Elsevier <ce:italic>HPCA</ce:italic> Elsevier Reale, Chiara oth Invernizzi, Federica oth Monti, Valentina oth Petrucci, Simona oth Ginevrino, Monia oth Morgante, Francesca oth Zorzi, Giovanna oth Zibordi, Federica oth Bentivoglio, Anna Rita oth Valente, Enza Maria oth Nardocci, Nardo oth Garavaglia, Barbara oth Enthalten in Harcourt Lim, Jun-Lee ELSEVIER Biologically active vallesamine, strychnan, and rhazinilam alkaloids from 2015 ejpn : official journal of the European Paediatric Neurology Society Burlington, Mass (DE-627)ELV001176439 volume:21 year:2017 number:2 pages:269-271 extent:3 https://doi.org/10.1016/j.ejpn.2016.10.001 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 42.00 Biologie: Allgemeines VZ AR 21 2017 2 269-271 3 |
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Carecchio, Miryam |
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dyt2 screening in early-onset isolated dystonia |
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DYT2 screening in early-onset isolated dystonia |
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Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term “DYT2 dystonia”. Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood. |
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Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term “DYT2 dystonia”. Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood. |
| abstract_unstemmed |
Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term “DYT2 dystonia”. Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood. |
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DYT2 screening in early-onset isolated dystonia |
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Reale, Chiara Invernizzi, Federica Monti, Valentina Petrucci, Simona Ginevrino, Monia Morgante, Francesca Zorzi, Giovanna Zibordi, Federica Bentivoglio, Anna Rita Valente, Enza Maria Nardocci, Nardo Garavaglia, Barbara |
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Reale, Chiara Invernizzi, Federica Monti, Valentina Petrucci, Simona Ginevrino, Monia Morgante, Francesca Zorzi, Giovanna Zibordi, Federica Bentivoglio, Anna Rita Valente, Enza Maria Nardocci, Nardo Garavaglia, Barbara |
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