TY  - GEN
AU  - Maresca,Alessandra
AU  - Del Dotto,Valentina
AU  - Capristo,Mariantonietta
AU  - Scimonelli,Emanuela
AU  - Tagliavini,Francesca
AU  - Morandi,Luca
AU  - Tropeano,Concetta Valentina
AU  - Caporali,Leonardo
AU  - Mohamed,Susan
AU  - Roberti,Marina
AU  - Scandiffio,Letizia
AU  - Zaffagnini,Mirko
AU  - Rossi,Jacopo
AU  - Cappelletti,Martina
AU  - Musiani,Francesco
AU  - Contin,Manuela
AU  - Riva,Roberto
AU  - Liguori,Rocco
AU  - Pizza,Fabio
AU  - La Morgia,Chiara
AU  - Antelmi,Elena
AU  - Loguercio Polosa,Paola
AU  - Mignot,Emmanuel
AU  - Zanna,Claudia
AU  - Plazzi,Giuseppe
AU  - Carelli,Valerio
TI  - DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism
SN  - 1460-2083
PY  - 2021///0813
KW  - DNA (Cytosine-5-)-Methyltransferase 1
KW  - genetics
KW  - DNA Methylation
KW  - Deafness
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Genetic Predisposition to Disease
KW  - Hereditary Sensory and Autonomic Neuropathies
KW  - Humans
KW  - Male
KW  - Mitochondria
KW  - Mutation
KW  - Narcolepsy
KW  - Nerve Degeneration
KW  - Oxidative Phosphorylation
KW  - Phenotype
KW  - Protein Processing, Post-Translational
KW  - Spinocerebellar Ataxias
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddaa014
ER  -