32707086 |
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
Bakhtiari, S,
Brandl, U,
Meitinger, T,
Sturm, M,
Kobeleva, X,
Ghasemi Firouzabadi, S,
Husain, RA,
Krageloh-Mann, I,
Mane, S,
Riess, O,
Hübner, CA,
Bolduc, F,
Deschauer, M,
Feichtinger, RG,
Döbler-Neumann, M,
Hennings, JC,
Klopstock, T,
Beck-Woedl, S,
Grimmel, M,
Rostásy, K,
Strom, TM,
Laugwitz, L,
Bevot, A,
Darvish, H,
Mayr, JA,
Nägele, T,
Huebner, AK,
Ng, AC,
Besse, A,
Kruer, MC,
Saadi, A,
Marx, C,
Bonnen, PE,
Klockgether, T,
Colleaux, L,
Hartmann, H,
Chiang, D,
Radelfahr, F,
Wortmann, SB,
Haack, TB,
Buchert, R,
Tafakhori, A,
Cordts, I,
Wagner, M,
Müller, AJ,
Wang, ZQ
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Am J Hum Genet |
2020 |