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Details on Person Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
| Class:Id | LiteratureReference:9856701 |
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| _displayName | Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia |
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| _timestamp | 2023-12-22 09:29:49 |
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| author | [Person:6786832] Husain, Ralf A
[Person:9856692] Grimmel, Mona
[Person:9856724] Wagner, Matias
[Person:9856691] Hennings, J Christopher
[Person:9856706] Marx, Christian
[Person:9856702] Feichtinger, René G
[Person:9856707] Saadi, Abdelkrim
[Person:9856695] Rostásy, Kevin
[Person:9856729] Radelfahr, Florentine
[Person:9856713] Bevot, Andrea
[Person:9856688] Döbler-Neumann, Marion
[Person:9856708] Hartmann, Hans
[Person:2537588] Colleaux, Laurence
[Person:9856725] Cordts, Isabell
[Person:9856687] Kobeleva, Xenia
[Person:9856712] Darvish, Hossein
[Person:9856681] Bakhtiari, Somayeh
[Person:9856704] Kruer, Michael C
[Person:2685375] Besse, Arnaud
[Person:9856705] Ng, Andy Cheuk-Him
[Person:9856711] Chiang, Diana
[Person:9856700] Bolduc, Francois
[Person:9856723] Tafakhori, Abbas
[Person:6802006] Mane, Shrikant
[Person:9856686] Ghasemi Firouzabadi, Saghar
[Person:9856716] Huebner, Antje K
[Person:5229125] Buchert, Rebecca
[Person:9856693] Beck-Woedl, Stefanie
[Person:9856727] Müller, Amelie J
[Person:9856694] Laugwitz, Lucia
[Person:9856717] Nägele, Thomas
[Person:9856726] Wang, Zhao-Qi
[Person:159842] Strom, TM
[Person:9856682] Sturm, Marc
[Person:196863] Meitinger, T
[Person:9617921] Klockgether, Thomas
[Person:5658553] Riess, Olaf
[Person:5657586] Klopstock, Thomas
[Person:9856683] Brandl, Ulrich
[Person:2471695] Hübner, Christian A
[Person:9856703] Deschauer, Marcus
[Person:5696075] Mayr, Johannes A
[Person:9852549] Bonnen, Penelope E
[Person:389233] Krageloh-Mann, I
[Person:9856728] Wortmann, Saskia B
[Person:5696029] Haack, Tobias B |
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| created | [InstanceEdit:9856699] Stephan, Ralf, 2023-12-22 |
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| journal | Am J Hum Genet |
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| pages | 364-373 |
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| pubMedIdentifier | 32707086 |
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| title | Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia |
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| volume | 107 |
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| year | 2020 |
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| (literatureReference) | [Pathway:2142789] Ubiquinol biosynthesis [Homo sapiens]
[Reaction:9856718] HPDL dioxygenates HPPA [Homo sapiens] |
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No pathways have been reviewed or authored by Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia (9856701)
