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Di Nottia, M.
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1

Novel mutations in KARS cause hypertrophic cardiomyopathy a..:

Verrigni, D. ; Diodato, D. ; Di Nottia, M....
Clinical Genetics.  91 (2017)  6 - p. 918-923 , 2017
Link: https://doi.org/10.1111/..
 
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2

A novel mutation in NDUFB11 unveils a new clinical phenotyp..:

Torraco, A. ; Bianchi, M. ; Verrigni, D....
Clinical Genetics.  91 (2016)  3 - p. 441-447 , 2016
Link: https://doi.org/10.1111/..
 
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3

DJ‐1 modulates mitochondrial response to oxidative stress: ..:

Di Nottia, M. ; Masciullo, M. ; Verrigni, D....
Clinical Genetics.  92 (2016)  1 - p. 18-25 , 2016
Link: https://doi.org/10.1111/..
 
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4

TERT Extra-Telomeric Roles: Antioxidant Activity and Mitoch..:

Marinaccio J ; Micheli E ; Udroiu I...
info:eu-repo/semantics/altIdentifier/pmid/36901881.  , 2023
Link: https://hdl.handle.net/1..
 
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5

Novel NDUFA12 variants are associated with isolated complex..:

Torraco, A ; Nasca, A ; Verrigni, D...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24195.  , 2021
Link: https://push-zb.helmholt..
 
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6

A homozygous MRPL24 mutation causes a complex movement diso..:

Di Nottia M ; Marchese M ; Verrigni D...
info:eu-repo/semantics/altIdentifier/pmid/32344152.  , 2020
Link: https://hdl.handle.net/1..
 
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7

Co-occurring WARS2 and CHRNA6 mutations in a child with a s..:

Martinelli, S ; Cordeddu, V ; Galosi, S...
https://discovery.ucl.ac.uk/id/eprint/10095066/3/Kurian_CHRNA6.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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8

A homozygous MRPL24 mutation causes a complex movement diso..:

Di Nottia M ; Marchese M ; Verrigni D...
info:eu-repo/semantics/altIdentifier/pmid/32344152.  , 2020
Link: http://hdl.handle.net/24..
 
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9

GLUT-1 changes in paediatric Huntington disease brain corte..:

Tramutola, Antonella ; Bakels, Hannah S. ; Perrone, Federica...
eBioMedicine.  97 (2023)  - p. 104849 , 2023
Link: https://doi.org/10.1016/..
 
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10

BiallelicSQSTM1mutations in early-onset, variably progressi..:

Muto, Valentina ; Flex, Elisabetta ; Kupchinsky, Zachary...
Neurology.  91 (2018)  4 - p. , 2018
Link: https://doi.org/10.1212/..
 
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11

Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:

Kaiyrzhanov, R ; Mohammed, S.E.M ; Maroofian, R...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.07.007.  , 2022
Link: https://push-zb.helmholt..
 
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12

Mutations in ELAC2 associated with hypertrophic cardiomyopa..:

Saoura, M ; Powell, CA ; Kopajtich, R...
https://discovery.ucl.ac.uk/id/eprint/10074235/1/Rahman%20PDFsam_Rahman%20VOR_Saoura_et_al-2019-Human_Mutation.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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13

Supplemental Data_Neurology #2018-879940:

Muto, Valentina ; Flex, Elisabetta ; Kupchinsky, Zachary...
doi:10.5061/dryad.r1vp879.  , 2018
Link: http://hdl.handle.net/10..
 
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14

Data from: Biallelic SQSTM1 mutations in early-onset, varia..:

Muto, Valentina ; Flex, Elisabetta ; Kupchinsky, Zachary...
doi:10.1212/wnl.0000000000005869.  , 2018
Link: https://zenodo.org/recor..
 
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15

Biallelic SQSTM1 mutations in early-onset, variably progres..:

Muto, Valentina ; Flex, Elisabetta ; Kupchinsky, Zachary...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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