Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.
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| Title: | Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families. |
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| Authors: | Aslam F; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Cedars Sinai Guerin Children's, Los Angeles, CA, USA., Wajid M; School of Biological Sciences, University of the Punjab, Lahore, Pakistan., Butt AI; School of Biological Sciences, University of the Punjab, Lahore, Pakistan., Wohler E; McKusick-Nathans Department of Genetic Medicine, John Hopkins University, Baltimore, MD, USA., Seo GH; 3 billion inc, Seoul, South Korea., Ji W; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA., Lakhani SA; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Cedars Sinai Guerin Children's, Los Angeles, CA, USA., Sobreira N; McKusick-Nathans Department of Genetic Medicine, John Hopkins University, Baltimore, MD, USA., Naz S; School of Biological Sciences, University of the Punjab, Lahore, Pakistan. naz.sbs@pu.edu.pk. |
| Source: | Scientific reports [Sci Rep] 2026 Jan 28; Vol. 16 (1), pp. 6529. Date of Electronic Publication: 2026 Jan 28. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41606223 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Aslam+F%22">Aslam F</searchLink>; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Cedars Sinai Guerin Children's, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Wajid+M%22">Wajid M</searchLink>; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Butt+AI%22">Butt AI</searchLink>; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Wohler+E%22">Wohler E</searchLink>; McKusick-Nathans Department of Genetic Medicine, John Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Seo+GH%22">Seo GH</searchLink>; 3 billion inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Ji+W%22">Ji W</searchLink>; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Lakhani+SA%22">Lakhani SA</searchLink>; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Cedars Sinai Guerin Children's, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Sobreira+N%22">Sobreira N</searchLink>; McKusick-Nathans Department of Genetic Medicine, John Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Naz+S%22">Naz S</searchLink>; School of Biological Sciences, University of the Punjab, Lahore, Pakistan. naz.sbs@pu.edu.pk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2026 Jan 28; Vol. 16 (1), pp. 6529. <i>Date of Electronic Publication: </i>2026 Jan 28. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101563288 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2045-2322 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220452322%22">20452322 </searchLink><i>NLM ISO Abbreviation: </i>Sci Rep <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41606223 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41598-026-37808-0 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 6529 Titles: – TitleFull: Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Aslam F – PersonEntity: Name: NameFull: Wajid M – PersonEntity: Name: NameFull: Butt AI – PersonEntity: Name: NameFull: Wohler E – PersonEntity: Name: NameFull: Seo GH – PersonEntity: Name: NameFull: Ji W – PersonEntity: Name: NameFull: Lakhani SA – PersonEntity: Name: NameFull: Sobreira N – PersonEntity: Name: NameFull: Naz S IsPartOfRelationships: – BibEntity: Dates: – D: 28 M: 01 Text: 2026 Jan 28 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2045-2322 Numbering: – Type: volume Value: 16 – Type: issue Value: 1 Titles: – TitleFull: Scientific reports Type: main |
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