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An atypical form of AOA2 with myoclonus associated with mut..:
MANCINI, CECILIA
;
GIORGIO, ELISA
;
DI GREGORIO, ELEONORA
...
info:eu-repo/semantics/altIdentifier/pmid/25927548. , 2015
Link:
http://hdl.handle.net/2318/1550607
RT Journal T1
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
UL https://suche.suub.uni-bremen.de/peid=base-ftunivtorino:oai:iris.unito.it:2318_1550607&Exemplar=1&LAN=DE A1 MANCINI, CECILIA A1 GIORGIO, ELISA A1 DI GREGORIO, ELEONORA A1 CAVALIERI, Simona A1 POZZI, ELISA A1 MORTARA, Paolo A1 CAGLIO, MARCELLA MARIA A1 PINESSI, Lorenzo A1 BRUSCO, Alfredo A1 Orsi, Laura A1 Guo, Yiran A1 Li, Jiankang A1 Chen, Yulan A1 Wang, Fengxiang A1 Tian, Lifeng A1 Liu, Xuanzhu A1 Zhang, Jianguo A1 Jiang, Hui A1 Nmezi, Bruce Shike A1 Tatsuta, Takashi A1 Balducci, Alessandro A1 Langer, Thomas A1 Padiath, Quasar S A1 Hakonarson, Hakon A1 Zhang, Xiuqing YR 2015 K1 AFG3L2 K1 Ataxia with oculomotor apraxia type 2 K1 Autosomal recessive ataxia K1 Exome sequencing K1 Modifier gene K1 Myoclonu K1 SCAR1 K1 Senataxin K1 SETX K1 ATP-Dependent Protease K1 Adolescent K1 Adult K1 Amino Acid Sequence K1 Animal K1 Child K1 DNA Mutational Analysi K1 Exome K1 Female K1 Homozygote K1 Human K1 Molecular Sequence Data K1 Pedigree K1 Posture K1 RNA Helicase K1 Spinocerebellar Degeneration K1 Young Adult K1 Mutation K1 Genetics (clinical) K1 Genetics JF info:eu-repo/semantics/altIdentifier/pmid/25927548 LK http://hdl.handle.net/2318/1550607 DO http://hdl.handle.net/2318/1550607 SF ELIB - SuUB Bremen
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