A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis
10.1093/brain/aww318
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OXFORD UNIV PRESS
2020
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sg-nus-scholar.10635-1732572024-11-11T10:09:14Z A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis Ahmed, Mustafa Y Al-Khayat, Aisha Al-Murshedi, Fathiya Al-Futaisi, Amna Chioza, Barry A Fernandez-Murray, J Pedro Self, Jay E Salter, Claire G Harlalka, Gaurav V Rawlins, Lettie E Al-Zuhaibi, Sana Al-Azri, Faisal Al-Rashdi, Fatma Cazenave-Gassiot, Amaury Wenk, Markus R Al-Salmi, Fatema Patton, Michael A Silver, David L Baple, Emma L McMaster, Christopher R Crosby, Andrew H BIOCHEMISTRY Fatin Umairah MD. ALI Science & Technology Life Sciences & Biomedicine Clinical Neurology Neurosciences Neurosciences & Neurology EPT1 mutation Kennedy pathway phospholipid biosynthesis hereditary spastic paraplegia whole exome sequencing HEREDITARY SPASTIC PARAPLEGIA SACCHAROMYCES-CEREVISIAE MOLECULAR-MECHANISMS CDP-ETHANOLAMINE FATTY-ACID PHOSPHATIDYLETHANOLAMINE CHOLINEPHOSPHOTRANSFERASE PHOSPHATIDYLCHOLINE CLONING FORM 10.1093/brain/aww318 BRAIN 140 3 547-554 2020-08-21T05:15:51Z 2020-08-21T05:15:51Z 2017-03-01 2020-06-17T04:25:44Z Article Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Fernandez-Murray, J Pedro, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H (2017-03-01). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. BRAIN 140 (3) : 547-554. ScholarBank@NUS Repository. https://doi.org/10.1093/brain/aww318 00068950 14602156 https://scholarbank.nus.edu.sg/handle/10635/173257 en OXFORD UNIV PRESS Elements |
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Asia |
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Singapore Singapore |
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ScholarBank@NUS |
| language |
English |
| topic |
Science & Technology Life Sciences & Biomedicine Clinical Neurology Neurosciences Neurosciences & Neurology EPT1 mutation Kennedy pathway phospholipid biosynthesis hereditary spastic paraplegia whole exome sequencing HEREDITARY SPASTIC PARAPLEGIA SACCHAROMYCES-CEREVISIAE MOLECULAR-MECHANISMS CDP-ETHANOLAMINE FATTY-ACID PHOSPHATIDYLETHANOLAMINE CHOLINEPHOSPHOTRANSFERASE PHOSPHATIDYLCHOLINE CLONING FORM |
| spellingShingle |
Science & Technology Life Sciences & Biomedicine Clinical Neurology Neurosciences Neurosciences & Neurology EPT1 mutation Kennedy pathway phospholipid biosynthesis hereditary spastic paraplegia whole exome sequencing HEREDITARY SPASTIC PARAPLEGIA SACCHAROMYCES-CEREVISIAE MOLECULAR-MECHANISMS CDP-ETHANOLAMINE FATTY-ACID PHOSPHATIDYLETHANOLAMINE CHOLINEPHOSPHOTRANSFERASE PHOSPHATIDYLCHOLINE CLONING FORM Ahmed, Mustafa Y Al-Khayat, Aisha Al-Murshedi, Fathiya Al-Futaisi, Amna Chioza, Barry A Fernandez-Murray, J Pedro Self, Jay E Salter, Claire G Harlalka, Gaurav V Rawlins, Lettie E Al-Zuhaibi, Sana Al-Azri, Faisal Al-Rashdi, Fatma Cazenave-Gassiot, Amaury Wenk, Markus R Al-Salmi, Fatema Patton, Michael A Silver, David L Baple, Emma L McMaster, Christopher R Crosby, Andrew H A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis |
| description |
10.1093/brain/aww318 |
| author2 |
BIOCHEMISTRY |
| author_facet |
BIOCHEMISTRY Ahmed, Mustafa Y Al-Khayat, Aisha Al-Murshedi, Fathiya Al-Futaisi, Amna Chioza, Barry A Fernandez-Murray, J Pedro Self, Jay E Salter, Claire G Harlalka, Gaurav V Rawlins, Lettie E Al-Zuhaibi, Sana Al-Azri, Faisal Al-Rashdi, Fatma Cazenave-Gassiot, Amaury Wenk, Markus R Al-Salmi, Fatema Patton, Michael A Silver, David L Baple, Emma L McMaster, Christopher R Crosby, Andrew H |
| format |
Article |
| author |
Ahmed, Mustafa Y Al-Khayat, Aisha Al-Murshedi, Fathiya Al-Futaisi, Amna Chioza, Barry A Fernandez-Murray, J Pedro Self, Jay E Salter, Claire G Harlalka, Gaurav V Rawlins, Lettie E Al-Zuhaibi, Sana Al-Azri, Faisal Al-Rashdi, Fatma Cazenave-Gassiot, Amaury Wenk, Markus R Al-Salmi, Fatema Patton, Michael A Silver, David L Baple, Emma L McMaster, Christopher R Crosby, Andrew H |
| author_sort |
Ahmed, Mustafa Y |
| title |
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis |
| title_short |
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis |
| title_full |
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis |
| title_fullStr |
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis |
| title_full_unstemmed |
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis |
| title_sort |
mutation of ept1 (selenoi) underlies a new disorder of kennedy pathway phospholipid biosynthesis |
| publisher |
OXFORD UNIV PRESS |
| publishDate |
2020 |
| url |
https://scholarbank.nus.edu.sg/handle/10635/173257 |
| _version_ |
1821194580461092864 |