Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum.
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| Title: | Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum. |
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| Authors: | Bruschi F; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi di Milano, Milan, Italy., Antonello CE; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, Vittore Buzzi Children's Hospital, Milan, Italy., Parazzini C; Pediatric Radiology and Neuroradiology Department, Vittore Buzzi Children's Hospital, Milan, Italy., Vaia Y; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi di Milano, Milan, Italy., Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy., Tonduti D; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi di Milano, Milan, Italy. |
| Source: | International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience [Int J Dev Neurosci] 2026 Apr; Vol. 86 (2), pp. e70119. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 8401784 Publication Model: Print Cited Medium: Internet ISSN: 1873-474X (Electronic) Linking ISSN: 07365748 NLM ISO Abbreviation: Int J Dev Neurosci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41919976 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bruschi+F%22">Bruschi F</searchLink>; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi di Milano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Antonello+CE%22">Antonello CE</searchLink>; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, Vittore Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Parazzini+C%22">Parazzini C</searchLink>; Pediatric Radiology and Neuroradiology Department, Vittore Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Vaia+Y%22">Vaia Y</searchLink>; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi di Milano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Iascone+M%22">Iascone M</searchLink>; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy.<br /><searchLink fieldCode="AU" term="%22Tonduti+D%22">Tonduti D</searchLink>; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences Luigi Sacco, Università Degli Studi di Milano, Milan, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228401784%22">International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience</searchLink> [Int J Dev Neurosci] 2026 Apr; Vol. 86 (2), pp. e70119. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%2C+Inc%22">John Wiley & Sons, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8401784 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-474X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2207365748%22">07365748 </searchLink><i>NLM ISO Abbreviation: </i>Int J Dev Neurosci <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41919976 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jdn.70119 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e70119 Titles: – TitleFull: Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bruschi F – PersonEntity: Name: NameFull: Antonello CE – PersonEntity: Name: NameFull: Parazzini C – PersonEntity: Name: NameFull: Vaia Y – PersonEntity: Name: NameFull: Iascone M – PersonEntity: Name: NameFull: Tonduti D IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2026 Apr Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1873-474X Numbering: – Type: volume Value: 86 – Type: issue Value: 2 Titles: – TitleFull: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience Type: main |
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