E-LIB Suche - Ergebnisse für: holt, IJ

1

2 deoxy-D-glucose augments the mitochondrial respiratory ch..:

Aiestaran-Zelaia, I ; Sánchez-Guisado, MJ ; Villar-Fernandez, M...
https://discovery.ucl.ac.uk/id/eprint/10148260/1/s41598-022-10168-1.pdf. , 2022

Link: https://discovery.ucl.ac..

2

2-Deoxy-D-glucose couples mitochondrial DNA replication wit..:

Pantic, B ; Ives, D ; Mennuni, M...
https://discovery.ucl.ac.uk/id/eprint/10139799/1/Pantic_et_al-2021-Nature_Communications.pdf. , 2021

Link: https://discovery.ucl.ac..

3

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3..:

Gunning, AC ; Strucinska, K ; Muñoz Oreja, M...
https://openaccess.sgul.ac.uk/id/eprint/111761/1/1-s2.0-S0002929720300070-main.pdf. , 2020

Link: https://openaccess.sgul...

4

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3..:

Gunning, AC ; Strucinska, K ; Muñoz Oreja, M...
https://discovery.ucl.ac.uk/id/eprint/10092792/1/1-s2.0-S0002929720300070-main.pdf. , 2020

Link: https://discovery.ucl.ac..

5

The mitochondrial R-loop:

Holt, IJ
https://discovery.ucl.ac.uk/id/eprint/10076719/8/Holt_The%20mitochondrial%20R-loop_VoR.pdf. , 2019

Link: https://discovery.ucl.ac..

6

MRPS25 mutations impair mitochondrial translation and cause..:

Bugiardini, E ; Mitchell, AL ; Rosa, ID...
https://researchonline.ljmu.ac.uk/id/eprint/11032/1/enrico.pdf. , 2019

Link: http://researchonline.lj..

7

Transcript availability dictates the balance between strand..:

Cluett, TJ ; Akman, G ; Reyes, A...
https://discovery.ucl.ac.uk/id/eprint/10057253/1/Cluett_Transcript.pdf. , 2018

Link: https://discovery.ucl.ac..

8

LETM1 couples mitochondrial DNA metabolism and nutrient pre..:

Durigon, R ; Mitchell, AL ; Jones, AW...
https://discovery.ucl.ac.uk/id/eprint/10053729/1/Dalla%20Rosa_emmm.201708550.full.pdf. , 2018

Link: https://discovery.ucl.ac..

9

Clinicopathologic and molecular spectrum of RNASEH1-related..:

Bugiardini, E ; Poole, OV ; Manole, A...
doi:10.1212/NXG.0000000000000149. , 2017

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

10

Clinicopathologic and molecular spectrum of RNASEH1-related..:

Bugiardini, E ; Poole, OV ; Manole, A...
https://discovery.ucl.ac.uk/id/eprint/1557040/1/Hanna_Neurol%20Genet-2017-Bugiardini-.pdf. , 2017

Link: https://discovery.ucl.ac..

11

ATAD3 gene cluster deletions cause cerebellar dysfunction a..:

Desai, R ; Frazier, AE ; Durigon, R...
https://discovery.ucl.ac.uk/id/eprint/1556521/1/ATAD3.pdf. , 2017

Link: https://discovery.ucl.ac..

12

Aberrant ribonucleotide incorporation and multiple deletion..:

holt, IJ ; Dalla Rosa, I ; Spinazzola, A
https://discovery.ucl.ac.uk/id/eprint/10025004/1/Dalla%20Rosa_gkx1009.pdf. , 2017

Link: https://discovery.ucl.ac..

13

Clinicopathologic and molecular spectrum of RNASEH1-related..:

Bugiardini, E ; Poole, OV ; Manole, A...
https://openaccess.sgul.ac.uk/id/eprint/111063/1/Clinicopathologic%20and%20molecular%20spectrum%20of%20RNASEH1-related%20mitochondrial%20disease.pdf. , 2017

Link: https://openaccess.sgul...

14

ATAD3 gene cluster deletions cause cerebellar dysfunction a..:

Desai, R ; Frazier, AE ; Durigon, R...
https://radar.brookes.ac.uk/radar/items/2ab30371-4310-44a0-9081-167fb3d18196/1/. , 2017

Link: https://radar.brookes.ac..

15

Reply: Genotype-phenotype correlation in ATAD3A deletions: ..:

Frazier, AE ; Holt, IJ ; Spinazzola, A.
https://discovery.ucl.ac.uk/id/eprint/1571888/1/Reply%20to%20ATAD3%20letter%20to%20the%20editor_Frazier%20et%20al.pdf. , 2017

Link: https://discovery.ucl.ac..