title: Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.
authors: estelle.tenisch@gmail.com
authors: Estelle Valerie
authors: EV
authors: Tenisch
authors: Anne-Sophie
authors: AS
authors: Lebre
authors: David
authors: D
authors: Grévent
authors: Pascale
authors: P
authors: de Lonlay
authors: Marlene
authors: M
authors: Rio
authors: Monica
authors: M
authors: Zilbovicius
authors: Benoît
authors: B
authors: Funalot
authors: Isabelle
authors: I
authors: Desguerre
authors: Francis
authors: F
authors: Brunelle
authors: Agnès
authors: A
authors: Rötig
authors: Arnold
authors: A
authors: Munnich
authors: Nathalie
authors: N
authors: Boddaert
mesh_terms: D002531:Cerebellum / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D009849:Olivopontocerebellar Atrophies / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D011149:Pons / Q000000981:diagnostic imaging* / Q000473:pathology; D011877:Radionuclide Imaging; D055815:Young Adult
chemical_list: D024101:Mitochondrial Proteins; C572056:NUBPL protein, human