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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| ISSN: | 1471-2377 |
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| DOI: | 10.1186/s12883-021-02113-y |
