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Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:

Kaiyrzhanov, Rauan ; Mohammed, Sami EM ; Maroofian, Reza...
https://discovery.ucl.ac.uk/id/eprint/10155215/1/Bi-allelic%20LETM1%20variants%20perturb%20mitochondrial%20ion%20homeostasis.pdf. , 2022

Link: https://discovery.ucl.ac.uk/id/eprint/10155215/1/Bi-al..

RT Journal
T1 <Title>Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10155215&Exemplar=1&LAN=DE
				
A1 Kaiyrzhanov, Rauan
A1 Mohammed, Sami EM
A1 Maroofian, Reza
A1 Husain, Ralf A
A1 Catania, Alessia
A1 Torraco, Alessandra
A1 Alahmad, Ahmad
A1 Dutra-Clarke, Marina
A1 Grønborg, Sabine
A1 Sudarsanam, Annapurna
A1 Vogt, Julie
A1 Arrigoni, Filippo
A1 Baptista, Julia
A1 Haider, Shahzad
A1 Feichtinger, René G
A1 Bernardi, Paolo
A1 Zulian, Alessandra
A1 Gusic, Mirjana
A1 Efthymiou, Stephanie
A1 Bai, Renkui
A1 Bibi, Farah
A1 Horga, Alejandro
A1 Martinez-Agosto, Julian A
A1 Lam, Amanda
A1 Manole, Andreea
A1 Rodriguez, Diego-Perez
A1 Durigon, Romina
A1 Pyle, Angela
A1 Albash, Buthaina
A1 Dionisi-Vici, Carlo
A1 Murphy, David
A1 Martinelli, Diego
A1 Bugiardini, Enrico
A1 Allis, Katrina
A1 Lamperti, Costanza
A1 Reipert, Siegfried
A1 Risom, Lotte
A1 Laugwitz, Lucia
A1 Di Nottia, Michela
A1 McFarland, Robert
A1 Vilarinho, Laura
A1 Hanna, Michael
A1 Prokisch, Holger
A1 Mayr, Johannes A
A1 Bertini, Enrico Silvio
A1 Ghezzi, Daniele
A1 Østergaard, Elsebet
A1 Wortmann, Saskia B
A1 Carrozzo, Rosalba
A1 Haack, Tobias B
A1 Taylor, Robert W
A1 Spinazzola, Antonella
A1 Nowikovsky, Karin
A1 Houlden, Henry
PB Elsevier BV
YR 2022
K1 LETM1
K1 Wolf-Hirschhorn syndrome
K1 genetics
K1 mitochondria
K1 mitochondrial diseases
K1 neurodegeneration
K1 neurology
K1 oxidative phosphorylation
K1 potassium transport
K1 volume homeostasis
JF https://discovery.ucl.ac.uk/id/eprint/10155215/1/Bi-allelic%20LETM1%20variants%20perturb%20mitochondrial%20ion%20homeostasis.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10155215/1/Bi-allelic%20LETM1%20variants%20perturb%20mitochondrial%20ion%20homeostasis.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10155215/1/Bi-allelic%20LETM1%20variants%20perturb%20mitochondrial%20ion%20homeostasis.pdf
SF ELIB - SuUB Bremen

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