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Bi-Allelic Letm1 Variants Perturb Mitochondrial Ion Homeostasis Leading to a Clinical Spectrum with Predominant Nervous System Involvement
AuthID
P-00X-515
P-00X-515
54
Author(s)
Kaiyrzhanov, R
·Mohammed, SEM
·Husain, RA
·Catania, A
·Torraco, A
·Alahmad, A
·[+13]·
[+3]·
[+7]·
[+2]·
[+3]·
[+6]·
Carrozzo, R
·Haack, TB
·Taylor, RW
·Spinazzola, A
·Nowikovsky, K
·Houlden, H
Document Type
Article
Year published
2022
Published
in AMERICAN JOURNAL OF HUMAN GENETICS, ISSN: 0002-9297
Volume: 109, Issue: 9, Pages: 1692-1712 (22)
Indexing
Publication Identifiers
Pubmed: 36055214
Scopus: 2-s2.0-85137109005
Wos: WOS:000877624100011
Source Identifiers
ISSN: 0002-9297
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Name Order | Name | Name Order | Name | Name Order | Name | ||
---|---|---|---|---|---|---|---|
1 | Kaiyrzhanov, R; | 2 | Mohammed, SEM; | 3 | Maroofian, R; | ||
4 | Husain, RA; | 5 | Catania, A; | 6 | Torraco, A; | ||
7 | Alahmad, A; | 8 | Dutra Clarke, M; | 9 | Gronborg, S; | ||
10 | Sudarsanam, A; | 11 | Vogt, J; | 12 | Arrigoni, F; | ||
13 | Baptista, J; | 14 | Haider, S; | 15 | Feichtinger, RG; | ||
16 | Bernardi, P; | 17 | Zulian, A; | 18 | Gusic, M; | ||
19 | Efthymiou, S; | 20 | Bai, RK; | 21 | Bibi, F; | ||
22 | Horga, A; | 23 | Martinez Agosto, JA; | 24 | Lam, A; | ||
25 | Manole, A; | 26 | Rodriguez, DP; | 27 | Durigon, R; | ||
28 | Pyle, A; | 29 | Albash, B; | 30 | Dionisi Vici, C; | ||
31 | Murphy, D; | 32 | Martinelli, D; | 33 | Bugiardini, E; | ||
34 | Allis, K; | 35 | Lamperti, C; | 36 | Reipert, S; | ||
37 | Risom, L; | 38 | Laugwitz, L; | 39 | Di Nottia, M; | ||
40 | McFarland, R; | 41 | Vilarinho, L; | 42 | Hanna, M; | ||
43 | Prokisch, H; | 44 | Mayr, JA; | 45 | Bertini, ES; | ||
46 | Ghezzi, D; | 47 | Ostergaard, E; | 48 | Wortmann, SB; | ||
49 | Carrozzo, R; | 50 | Haack, TB; | 51 | Taylor, RW; | ||
52 | Spinazzola, A; | 53 | Nowikovsky, K; | 54 | Houlden, H; |