E-LIB Suche - Ergebnisse für: Nottia, Michela Di

1

Case report: A safeguard in the sea of variants of uncertai..:

Fabozzi, Francesco ; Carrozzo, Rosalba ; Lodi, Mariachiara...
Frontiers in Oncology. 13 (2024) - p. , 2024

2

De Novo DNM1L Mutation in a Patient with Encephalopathy, Ca..:

Berti, Beatrice ; Verrigni, Daniela ; Nasca, Alessia...
International Journal of Molecular Sciences. 25 (2024) 14 - p. 7782 , 2024

Link: https://doi.org/10.3390/..

3

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/..

4

Inflammatory profile in mitochondrial diseases: A cohort st..:

Primiano, Guido ; Plantone, Domenico ; Piro, Geny...
European Journal of Neurology. 30 (2023) 10 - p. 3409-3410 , 2023

Link: https://doi.org/10.1111/..

5

Silencing of the mitochondrial ribosomal protein L-24 gene ..:

Ficociello, Graziella ; Schifano, Emily ; Di Nottia, Michela...
Biochimica et Biophysica Acta (BBA) - General Subjects. 1867 (2023) 1 - p. 130255 , 2023

Link: https://doi.org/10.1016/..

6

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

Marinaccio, Jessica ; Micheli, Emanuela ; Udroiu, Ion...
International Journal of Molecular Sciences. 24 (2023) 5 - p. 4450 , 2023

Link: https://doi.org/10.3390/..

7

A novel homozygous variant in COX5A causes an attenuated ph..:

Torraco, Alessandra ; Morlino, Silvia ; Rizza, Teresa...
Clinical Genetics. 102 (2022) 1 - p. 56-60 , 2022

Link: https://doi.org/10.1111/..

8

Mitochondrial Dynamics: Molecular Mechanisms, Related Prima..:

Di Nottia, Michela ; Verrigni, Daniela ; Torraco, Alessandra...
Genes. 12 (2021) 2 - p. 247 , 2021

Link: https://doi.org/10.3390/..

9

Hyperactive HRAS dysregulates energetic metabolism in fibro..:

Carpentieri, Giovanna ; Leoni, Chiara ; Pietraforte, Donatella...
Human Molecular Genetics. 31 (2021) 4 - p. 561-575 , 2021

Link: https://doi.org/10.1093/..

10

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

Di Nottia, Michela ; Marchese, Maria ; Verrigni, Daniela...
Neurobiology of Disease. 141 (2020) - p. 104880 , 2020

Link: https://doi.org/10.1016/..

11

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

Martinelli, Simone ; Cordeddu, Viviana ; Galosi, Serena...
Parkinsonism & Related Disorders. 72 (2020) - p. 75-79 , 2020

Link: https://doi.org/10.1016/..

12

Mutations inELAC2associated with hypertrophic cardiomyopath..:

Saoura, Makenzie ; Powell, Christopher A. ; Kopajtich, Robert...
Human Mutation. 40 (2019) 10 - p. 1731-1748 , 2019

Link: https://doi.org/10.1002/..

13

Dystonia-Ataxia with early handwriting deterioration in COQ..:

Galosi, Serena ; Barca, Emanuele ; Carrozzo, Rosalba...
Parkinsonism & Related Disorders. 68 (2019) - p. 8-16 , 2019

Link: https://doi.org/10.1016/..

14

ISCA1 mutation in a patient with infantile-onset leukodystr..:

Torraco, Alessandra ; Stehling, Oliver ; Stümpfig, Claudia...
Human Molecular Genetics. 27 (2018) 15 - p. 2739-2754 , 2018

Link: https://doi.org/10.1093/..

15

BiallelicSQSTM1mutations in early-onset, variably progressi..:

Muto, Valentina ; Flex, Elisabetta ; Kupchinsky, Zachary...
Neurology. 91 (2018) 4 - p. , 2018

Link: https://doi.org/10.1212/..