Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry

dc.contributor.author	Laugwitz, Lucia
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-03-31T06:45:18Z
dc.date.available	2023-03-31T06:45:18Z
dc.date.issued	2022
dc.identifier.issn	0002-9297
dc.identifier.uri	http://hdl.handle.net/10900/138688
dc.language.iso	en	en
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2022.07.007
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230202000000_01521
utue.publikation.seiten	1692-1712	de_DE
utue.personen.roh	Kaiyrzhanov, Rauan
utue.personen.roh	Mohammed, Sami E. M.
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Husain, Ralf A.
utue.personen.roh	Catania, Alessia
utue.personen.roh	Torraco, Alessandra
utue.personen.roh	Alahmad, Ahmad
utue.personen.roh	Dutra-Clarke, Marina
utue.personen.roh	Gronborg, Sabine
utue.personen.roh	Sudarsanam, Annapurna
utue.personen.roh	Vogt, Julie
utue.personen.roh	Arrigoni, Filippo
utue.personen.roh	Baptista, Julia
utue.personen.roh	Haider, Shahzad
utue.personen.roh	Feichtinger, Rene G.
utue.personen.roh	Bernardi, Paolo
utue.personen.roh	Zulian, Alessandra
utue.personen.roh	Gusic, Mirjana
utue.personen.roh	Efthymiou, Stephanie
utue.personen.roh	Bai, Renkui
utue.personen.roh	Bibi, Farah
utue.personen.roh	Horga, Alejandro
utue.personen.roh	Martinez-Agosto, Julian A.
utue.personen.roh	Lam, Amanda
utue.personen.roh	Manole, Andreea
utue.personen.roh	Rodriguez, Diego-Perez
utue.personen.roh	Durigon, Romina
utue.personen.roh	Pyle, Angela
utue.personen.roh	Albash, Buthaina
utue.personen.roh	Dionisi-Vici, Carlo
utue.personen.roh	Murphy, David
utue.personen.roh	Martinelli, Diego
utue.personen.roh	Bugiardini, Enrico
utue.personen.roh	Allis, Katrina
utue.personen.roh	Lamperti, Costanza
utue.personen.roh	Reipert, Siegfried
utue.personen.roh	Risom, Lotte
utue.personen.roh	Laugwitz, Lucia
utue.personen.roh	Di Nottia, Michela
utue.personen.roh	McFarland, Robert
utue.personen.roh	Vilarinho, Laura
utue.personen.roh	Hanna, Michael
utue.personen.roh	Prokisch, Holger
utue.personen.roh	Mayr, Johannes A.
utue.personen.roh	Bertini, Enrico Silvio
utue.personen.roh	Ghezzi, Daniele
utue.personen.roh	Ostergaard, Elsebet
utue.personen.roh	Wortmann, Saskia B.
utue.personen.roh	Carrozzo, Rosalba
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Taylor, Robert W.
utue.personen.roh	Spinazzola, Antonella
utue.personen.roh	Nowikovsky, Karin
utue.personen.roh	Houlden, Henry
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	9	de_DE
dcterms.isPartOf.ZS-Volume	109	de_DE
utue.fakultaet	04 Medizinische Fakultät