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Labrum, Robyn
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1

Factors Influencing Health-Related Quality of Life of Patie..:

Weber, Niklas ; Buchholz, Maresa ; Rädke, Anika...
The Cerebellum.  23 (2024)  4 - p. 1466-1477 , 2024
Link: https://doi.org/10.1007/..
 
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2

Leukoencephalopathy caused by a 17p13.3 microdeletion:

Wade, Charles ; Williams, Thomas ; Labrum, Robyn...
Journal of Neurology, Neurosurgery & Psychiatry.  95 (2023)  3 - p. 290-292 , 2023
Link: https://doi.org/10.1136/..
 
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3

Enhanced mitochondrial genome analysis: bioinformatic and l..:

Macken, William L. ; Falabella, Micol ; Pizzamiglio, Chiara...
Expert Review of Molecular Diagnostics.  23 (2023)  9 - p. 797-814 , 2023
Link: https://doi.org/10.1080/..
 
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4

Health-Related Quality of Life in Patients with Spinocerebe..:

Buchholz, Maresa ; Weber, Niklas ; Rädke, Anika...
The Cerebellum.  23 (2023)  3 - p. 1020-1030 , 2023
Link: https://doi.org/10.1007/..
 
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5

SCAview: an Intuitive Visual Approach to the Integrative An..:

Uebachs, Mischa ; Wegner, Philipp ; Schaaf, Sebastian...
The Cerebellum.  23 (2023)  3 - p. 887-895 , 2023
Link: https://doi.org/10.1007/..
 
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6

Genetic testing for mitochondrial disease: the United Kingd..:

Mavraki, Eleni ; Labrum, Robyn ; Sergeant, Kate...
European Journal of Human Genetics.  31 (2022)  2 - p. 148-163 , 2022
Link: https://doi.org/10.1038/..
 
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7

Mutant TRIAP1 causes impaired mitochondrial bioenergetics a..:

Falabella, Micol ; Tabara, Luis Carlos ; Poole, Olivia V....
Biochimica et Biophysica Acta (BBA) - Bioenergetics.  1863 (2022)  - p. 148844 , 2022
Link: https://doi.org/10.1016/..
 
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8

Specialist multidisciplinary input maximises rare disease d..:

Macken, William L. ; Falabella, Micol ; McKittrick, Caroline...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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9

Friedreich's Ataxia Frequency in a Large Cohort of Genetica..:

Brown, Alexander F. ; Parkinson, Michael H. ; Garcia-Moreno, Hector...
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

Interruptions of the FXN GAA Repeat Tract Delay the Age at ..:

Nethisinghe, Suran ; Kesavan, Maheswaran ; Ging, Heather...
International Journal of Molecular Sciences.  22 (2021)  14 - p. 7507 , 2021
Link: https://doi.org/10.3390/..
 
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11

Mitochondrial DNA Analysis from Exome Sequencing Data Impro..:

Poole, Olivia V. ; Pizzamiglio, Chiara ; Murphy, David...
Annals of Neurology.  89 (2021)  6 - p. 1240-1247 , 2021
Link: https://doi.org/10.1002/..
 
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12

The repeat variant in MSH3 is not a genetic modifier for sp..:

Houlden, Henry ; Lima, Manuela ; Wood, Nicholas W...
Brain.  143 (2020)  4 - p. e25-e25 , 2020
Link: https://doi.org/10.1093/..
 
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13

Prediction of Survival With Long‐Term Disease Progression i..:

Diallo, Alhassane ; Jacobi, Heike ; Cook, Arron...
Movement Disorders.  34 (2019)  8 - p. 1220-1227 , 2019
Link: https://doi.org/10.1002/..
 
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14

Long-term evolution of patient-reported outcome measures in..:

Jacobi, Heike ; du Montcel, Sophie Tezenas ; Bauer, Peter...
Journal of Neurology.  265 (2018)  9 - p. 2040-2051 , 2018
Link: https://doi.org/10.1007/..
 
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15

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Abs..:

Nethisinghe, Suran ; Pigazzini, Maria Lucia ; Pemble, Sally...
Frontiers in Cellular Neuroscience.  12 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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