Bi-Allelic Letm1 Variants Perturb Mitochondrial Ion Homeostasis Leading to a Clinical Spectrum with Predominant Nervous System Involvement

AuthID
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
Tipo de Documento
Article
Year published
2022
Publicado
in AMERICAN JOURNAL OF HUMAN GENETICS, ISSN: 0002-9297
Volume: 109, Número: 9, Páginas: 1692-1712 (22)
Indexing
Publication Identifiers
Pubmed: 36055214
SCOPUS: 2-s2.0-85137109005
Wos: WOS:000877624100011
Source Identifiers
ISSN: 0002-9297
Export Publication Metadata
Info
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Name Order Nome   Name Order Nome   Name Order Nome
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;