E-LIB Suche - Ergebnisse für: Fassone, Elisa

1

Expanding the phenotypic spectrum of BCS1L‐related mitochon..:

Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki...
Annals of Clinical and Translational Neurology. 8 (2021) 11 - p. 2155-2165 , 2021

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

2

The pleiotropic effects of decanoic acid treatment on mitoc..:

Kanabus, Marta ; Fassone, Elisa ; Hughes, Sean David...
Journal of Inherited Metabolic Disease. 39 (2016) 3 - p. 415-426 , 2016

Link: https://doi.org/10.1007/..

3

TRNT1 deficiency: clinical, biochemical and molecular genet..:

Wedatilake, Yehani ; Niazi, Rojeen ; Fassone, Elisa...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

4

Lower motor neuron disease with respiratory failure caused ..:

Di Fonzo, Alessio ; Ronchi, Dario ; Gallia, Francesca...
Neurology. 82 (2014) 22 - p. 1990-1998 , 2014

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

5

Mutations in DNA2 Link Progressive Myopathy to Mitochondria..:

Ronchi, Dario ; Di Fonzo, Alessio ; Lin, Weiqiang...
The American Journal of Human Genetics. 92 (2013) 2 - p. 293-300 , 2013

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

6

Self‐welding 1‐butene/ethylene copolymers from metallocene ..:

Marega, Carla ; Spataro, Stefano ; Fassone, Elisa..
Journal of Applied Polymer Science. 131 (2013) 8 - p. , 2013

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

7

Two novel mutations in PEO1 (Twinkle) gene associated with ..:

Ronchi, Dario ; Fassone, Elisa ; Bordoni, Andreina...
Journal of the Neurological Sciences. 308 (2011) 1-2 - p. 173-176 , 2011

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

8

Unusual adult-onset Leigh syndrome presentation due to the ..:

Ronchi, Dario ; Bordoni, Andreina ; Cosi, Alessandra...
Biochemical and Biophysical Research Communications. 412 (2011) 2 - p. 245-248 , 2011

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

9

A novel homozygous deletion in NDUFS4 causes complex I defi..:

Fassone, Elisa ; Duncan, Andrew J. ; Leonard, James V..
Mitochondrion. 11 (2011) 4 - p. 656 , 2011

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

10

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I..:

Fassone, Elisa ; Duncan, Andrew J. ; Taanman, Jan-Willem...
Human Molecular Genetics. 19 (2010) 24 - p. 4837-4847 , 2010

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

11

The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) g..:

Ronchi, Dario ; Virgilio, Roberta ; Bordoni, Andreina...
Journal of the Neurological Sciences. 292 (2010) 1-2 - p. 107-110 , 2010

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

12

Mitochondrial DNA G8363A mutation in the tRNALys gene: Clin..:

Virgilio, Roberta ; Ronchi, Dario ; Bordoni, Andreina...
Journal of the Neurological Sciences. 281 (2009) 1-2 - p. 85-92 , 2009

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

13

Expanding the phenotypic spectrum of BCS1L‐related mitochon..:

Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607453/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Expanding the phenotypic spectrum of BCS1L-related mitochon..:

Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki...
urn:issn:2328-9503. , 2021

Link: https://hdl.handle.net/1..

15

Expanding the phenotypic spectrum of BCS1L-related mitochon..:

Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki...
10.1002/acn3.51470. , 2021

Link: http://hdl.handle.net/10..