Co-occurrence of Chiari malformation type 1 and small fiber neuropathy in a family with a novel COL6A5 null variant.
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| Title: | Co-occurrence of Chiari malformation type 1 and small fiber neuropathy in a family with a novel COL6A5 null variant. |
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| Authors: | Masciarelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Dell'Aversana D; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Vitale F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Ciccarelli G; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Micale L; Division of Medical Genetics and Inborn Errors of Morphogenesis Research Unit, Fondazione IRCCS-Casa Sollievo Della Sofferenza, Viale Cappuccini Snc, 71013, San Giovanni Rotondo (FG), Italy., Morlino S; Division of Medical Genetics and Inborn Errors of Morphogenesis Research Unit, Fondazione IRCCS-Casa Sollievo Della Sofferenza, Viale Cappuccini Snc, 71013, San Giovanni Rotondo (FG), Italy., Caporaso G; Istituti Clinici Scientifici Maugeri IRCCS, Skin Biopsy Lab, Neurological Rehabilitation Unit of Telese Terme Institute, 82037, Telese Terme, Benevento, Italy., Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Provitera V; Istituti Clinici Scientifici Maugeri IRCCS, Skin Biopsy Lab, Neurological Rehabilitation Unit of Telese Terme Institute, 82037, Telese Terme, Benevento, Italy., Castori M; Division of Medical Genetics and Inborn Errors of Morphogenesis Research Unit, Fondazione IRCCS-Casa Sollievo Della Sofferenza, Viale Cappuccini Snc, 71013, San Giovanni Rotondo (FG), Italy., Nolano M; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy. maria.nolano@unina.it.; Istituti Clinici Scientifici Maugeri IRCCS, Skin Biopsy Lab, Neurological Rehabilitation Unit of Telese Terme Institute, 82037, Telese Terme, Benevento, Italy. maria.nolano@unina.it. |
| Source: | Clinical autonomic research : official journal of the Clinical Autonomic Research Society [Clin Auton Res] 2026 Jun 15. Date of Electronic Publication: 2026 Jun 15. |
| Publication Type: | Letter |
| Journal Info: | Publisher: Steinkopff Country of Publication: Germany NLM ID: 9106549 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1619-1560 (Electronic) Linking ISSN: 09599851 NLM ISO Abbreviation: Clin Auton Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42295520 AccessLevel: 2 PubType: Editorial & Opinion PubTypeId: editorialOpinion PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Co-occurrence of Chiari malformation type 1 and small fiber neuropathy in a family with a novel COL6A5 null variant. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Masciarelli+F%22">Masciarelli F</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Dell'Aversana+D%22">Dell'Aversana D</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Vitale+F%22">Vitale F</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Ciccarelli+G%22">Ciccarelli G</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Micale+L%22">Micale L</searchLink>; Division of Medical Genetics and Inborn Errors of Morphogenesis Research Unit, Fondazione IRCCS-Casa Sollievo Della Sofferenza, Viale Cappuccini Snc, 71013, San Giovanni Rotondo (FG), Italy.<br /><searchLink fieldCode="AU" term="%22Morlino+S%22">Morlino S</searchLink>; Division of Medical Genetics and Inborn Errors of Morphogenesis Research Unit, Fondazione IRCCS-Casa Sollievo Della Sofferenza, Viale Cappuccini Snc, 71013, San Giovanni Rotondo (FG), Italy.<br /><searchLink fieldCode="AU" term="%22Caporaso+G%22">Caporaso G</searchLink>; Istituti Clinici Scientifici Maugeri IRCCS, Skin Biopsy Lab, Neurological Rehabilitation Unit of Telese Terme Institute, 82037, Telese Terme, Benevento, Italy.<br /><searchLink fieldCode="AU" term="%22Tozza+S%22">Tozza S</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Provitera+V%22">Provitera V</searchLink>; Istituti Clinici Scientifici Maugeri IRCCS, Skin Biopsy Lab, Neurological Rehabilitation Unit of Telese Terme Institute, 82037, Telese Terme, Benevento, Italy.<br /><searchLink fieldCode="AU" term="%22Castori+M%22">Castori M</searchLink>; Division of Medical Genetics and Inborn Errors of Morphogenesis Research Unit, Fondazione IRCCS-Casa Sollievo Della Sofferenza, Viale Cappuccini Snc, 71013, San Giovanni Rotondo (FG), Italy.<br /><searchLink fieldCode="AU" term="%22Nolano+M%22">Nolano M</searchLink>; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy. maria.nolano@unina.it.; Istituti Clinici Scientifici Maugeri IRCCS, Skin Biopsy Lab, Neurological Rehabilitation Unit of Telese Terme Institute, 82037, Telese Terme, Benevento, Italy. maria.nolano@unina.it. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229106549%22">Clinical autonomic research : official journal of the Clinical Autonomic Research Society</searchLink> [Clin Auton Res] 2026 Jun 15. <i>Date of Electronic Publication: </i>2026 Jun 15. – Name: TypePub Label: Publication Type Group: TypPub Data: Letter – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Steinkopff%22">Steinkopff </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>9106549 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1619-1560 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209599851%22">09599851 </searchLink><i>NLM ISO Abbreviation: </i>Clin Auton Res <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42295520 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10286-026-01225-0 Languages: – Code: eng Text: English Titles: – TitleFull: Co-occurrence of Chiari malformation type 1 and small fiber neuropathy in a family with a novel COL6A5 null variant. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Masciarelli F – PersonEntity: Name: NameFull: Dell'Aversana D – PersonEntity: Name: NameFull: Vitale F – PersonEntity: Name: NameFull: Ciccarelli G – PersonEntity: Name: NameFull: Micale L – PersonEntity: Name: NameFull: Morlino S – PersonEntity: Name: NameFull: Caporaso G – PersonEntity: Name: NameFull: Tozza S – PersonEntity: Name: NameFull: Provitera V – PersonEntity: Name: NameFull: Castori M – PersonEntity: Name: NameFull: Nolano M IsPartOfRelationships: – BibEntity: Dates: – D: 15 M: 06 Text: 2026 Jun 15 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1619-1560 Titles: – TitleFull: Clinical autonomic research : official journal of the Clinical Autonomic Research Society Type: main |
| ResultId | 1 |
