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L

Lindsey Van Haute

University of Cambridge
H指数:25
被引数:2,793

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
EMBO MOLECULAR MEDICINE
IF8.3
2024-11-201
PRE
Van Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
NATURE COMMUNICATIONS
IF15.7
2023-02-2310
OAAI
Van Haute, Lindsey; O'Connor, Emily; Diaz-Maldonado, Hector; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H.; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J.; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A.; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S.; Ziegler, Alban; Thorburn, David R.; Stroud, David A.; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmueller, Hanns; Minczuk, Michal; Horvath, Rita
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

线粒体中的基因组编辑在体内纠正了致病性mtDNA突变

NATURE MEDICINE
IF50
2018-09-24230
OAAI
Gammage, Payam A.; Viscomi, Carlo; Simard, Marie-Lune; Costa, Ana S. H.; Gaude, Edoardo; Powell, Christopher A.; Van Haute, Lindsey; McCann, Beverlyj; Rebelo-Guiomar, Pedro; Cerutti, Raffaele; Zhang, Lei; Rebar, Edward J.; Zeviani, Massimo; Frezza, Christian; Stewart, James B.; Minczuk, Michal
Deficient methylation and formylation of mt- tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

携带NSUN3突变的患者中mt-trnamet摆动胞嘧啶的甲基化和甲酰化缺陷

NATURE COMMUNICATIONS
IF15.7
2016-06-30190
OAAI
Van Haute, Lindsey; Dietmann, Sabine; Kremer, Laura; Hussain, Shobbir; Pearce, Sarah F.; Powell, Christopher A.; Rorbach, Joanna; Lantaff, Rebecca; Blanco, Sandra; Sauer, Sascha; Kotzaeridou, Urania; Hoffmann, Georg F.; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Mayr, Johannes A.; Frye, Michaela; Prokisch, Holger; Minczuk, Michal

研究方向

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M
Michal Minczuk
H 指数:57论文数:151被引数:9,036
C
Christopher A. Powell
H 指数:32论文数:61被引数:3,591
P
Pedro Rebelo‐Guiomar
H 指数:17论文数:41被引数:1,745
J
Joanna Rorbach
H 指数:36论文数:102被引数:4,356
C
Claudia Spits
H 指数:32论文数:153被引数:3,423
K
Karen Sermon
H 指数:60论文数:323被引数:1.0万
C
Christian D. Mutti
H 指数:7论文数:12被引数:371
A
Aaron R. D’Souza
H 指数:10论文数:22被引数:1,150
P
Petra Páleníková
H 指数:7论文数:20被引数:704
P
P. Nash
H 指数:10论文数:29被引数:444