A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.
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| Title: | A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. |
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| Authors: | Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Alqsr Street, Khartoum, Sudan.; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.; Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France., Chen ZS; School of Life Sciences, Faculty of Science, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong, SAR, China., Ahmed AE; Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Emad S; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Adil R; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Abubaker R; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Taha SOMA; Department of Radiology, Dar Al Elaj Specialized Hospital, Khartoum, Sudan., Salih MA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Elsayed L; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Alqsr Street, Khartoum, Sudan. doctorlbo@hotmail.com., Chan HYE; School of Life Sciences, Faculty of Science, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong, SAR, China.; Gerald Choa Neuroscience Centre, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong, SAR, China., Stevanin G; Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France. |
| Source: | BMC neurology [BMC Neurol] 2021 Feb 18; Vol. 21 (1), pp. 78. Date of Electronic Publication: 2021 Feb 18. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33602173 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Yahia+A%22">Yahia A</searchLink>; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Alqsr Street, Khartoum, Sudan.; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.; Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Chen+ZS%22">Chen ZS</searchLink>; School of Life Sciences, Faculty of Science, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong, SAR, China.<br /><searchLink fieldCode="AU" term="%22Ahmed+AE%22">Ahmed AE</searchLink>; Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Emad+S%22">Emad S</searchLink>; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Adil+R%22">Adil R</searchLink>; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Abubaker+R%22">Abubaker R</searchLink>; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Taha+SOMA%22">Taha SOMA</searchLink>; Department of Radiology, Dar Al Elaj Specialized Hospital, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Salih+MA%22">Salih MA</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Elsayed+L%22">Elsayed L</searchLink>; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Alqsr Street, Khartoum, Sudan. doctorlbo@hotmail.com.<br /><searchLink fieldCode="AU" term="%22Chan+HYE%22">Chan HYE</searchLink>; School of Life Sciences, Faculty of Science, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong, SAR, China.; Gerald Choa Neuroscience Centre, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong, SAR, China.<br /><searchLink fieldCode="AU" term="%22Stevanin+G%22">Stevanin G</searchLink>; Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France.; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100968555%22">BMC neurology</searchLink> [BMC Neurol] 2021 Feb 18; Vol. 21 (1), pp. 78. <i>Date of Electronic Publication: </i>2021 Feb 18. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968555 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2377 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712377%22">14712377 </searchLink><i>NLM ISO Abbreviation: </i>BMC Neurol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33602173 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12883-021-02113-y Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 78 Titles: – TitleFull: A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Yahia A – PersonEntity: Name: NameFull: Chen ZS – PersonEntity: Name: NameFull: Ahmed AE – PersonEntity: Name: NameFull: Emad S – PersonEntity: Name: NameFull: Adil R – PersonEntity: Name: NameFull: Abubaker R – PersonEntity: Name: NameFull: Taha SOMA – PersonEntity: Name: NameFull: Salih MA – PersonEntity: Name: NameFull: Elsayed L – PersonEntity: Name: NameFull: Chan HYE – PersonEntity: Name: NameFull: Stevanin G IsPartOfRelationships: – BibEntity: Dates: – D: 18 M: 02 Text: 2021 Feb 18 Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1471-2377 Numbering: – Type: volume Value: 21 – Type: issue Value: 1 Titles: – TitleFull: BMC neurology Type: main |
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