Poole, OV
18  results:
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1

Mitochondrial DNA Analysis from Exome Sequencing Data Impro..:

Poole, OV ; Pizzamiglio, C ; Murphy, D...
https://openaccess.sgul.ac.uk/id/eprint/113089/6/ana.26063.pdf.  , 2021
 
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2

Mitochondrial DNA analysis from exome sequencing data impro..:

Poole, OV ; Pizzamiglio, C ; Murphy, D...
https://discovery.ucl.ac.uk/id/eprint/10124258/7/Pizzamiglio_Mitochondrial%20DNA%20analysis%20from%20exome%20sequencing%20data%20improves%20the%20diagnostic%20yield%20in%20neurological%20diseases_AOP.pdf.  , 2021
 
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Expanding the molecular and phenotypic spectrum of truncati..:

Bugiardini, E ; Bottani, E ; Marchet, S...
https://discovery.ucl.ac.uk/id/eprint/10089551/1/e381.full.pdf.  , 2020
 
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4

Multisystem mitochondrial disease caused by a rare m.10038G..:

Poole, OV ; Horga, A ; Hardy, SA...
https://discovery.ucl.ac.uk/id/eprint/10093830/1/e413.full.pdf.  , 2020
 
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5

Expanding the molecular and phenotypic spectrum of truncati..:

Bugiardin, E ; Bottani, E ; Marchet, S...
https://researchonline.ljmu.ac.uk/id/eprint/12246/1/Expanding_the_molecular_and_phenotypic_spectrum_of%20%281%29.pdf.  , 2020
 
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6

Multisystem mitochondrial disease caused by a rare m.10038G..:

Poole, OV ; Hardy, SA ; Bugiardini, E...
https://researchonline.ljmu.ac.uk/id/eprint/12600/1/olivia%20paper.pdf.  , 2020
 
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7

Adult-onset Leigh syndrome linked to the novel stop codon m..:

Poole, OV ; Everett, CM ; Gandhi, S...
https://discovery.ucl.ac.uk/id/eprint/10068646/1/1-s2.0-S1567724918301752-main.pdf.  , 2019
 
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8

Urogenital symptoms in mitochondrial disease: overlooked an..:

Poole, OV ; Uchiyama, T ; Skorupinska, I...
https://discovery.ucl.ac.uk/id/eprint/10071021/7/Poole_ene.13952.pdf.  , 2019
 
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9

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
 
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10

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in..:

Bugiardini, E ; Pope, S ; Feichtinger, RG...
https://discovery.ucl.ac.uk/id/eprint/10077972/1/Bugiardini_jcm-08-00991-v3.pdf.  , 2019
 
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11

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in..:

Bugiardini, E ; Pope, S ; Feichtinger, RG...
https://openaccess.sgul.ac.uk/id/eprint/111339/1/jcm-08-00991-v3.pdf.  , 2019
 
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12

Vestibular dysfunction: a frequent problem for adults with ..:

Holmes, S ; Male, AJ ; Ramdharry, G...
https://discovery.ucl.ac.uk/id/eprint/10063395/1/jnnp-2018-319267.full.pdf.  , 2018
 
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13

Vestibular dysfunction: a frequent problem for adults with ..:

Holmes, S ; Male, AJ ; Ramdharry, G...
Journal of Neurology, Neurosurgery and Psychiatry.  , 2018
 
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14

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
 
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