Cell-free mitochondrial DNA in progressive multiple sclerosis

gan Lowes, Hannah, Pyle, Angela, Duddy, Martin, Hudson, Gavin
Cyhoeddwyd yn Mitochondrion (2019)

Circulating cell-free mitochondrial DNA levels in Parkinson’s disease are influenced by treatment

gan Lowes, Hannah, Pyle, Angela, Santibanez-Koref, Mauro, Hudson, Gavin
Cyhoeddwyd yn Mol Neurodegener (2020)

Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease

gan Lowes, Hannah, Kurzawa-Akanbi, Marzena, Pyle, Angela, Hudson, Gavin
Cyhoeddwyd yn Sci Rep (2020)

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

gan Pfeffer, Gerald, Griffin, Helen, Pyle, Angela, Horvath, Rita, Chinnery, Patrick F.
Cyhoeddwyd 2014

Interactions between nuclear and mitochondrial SNPs and Parkinson’s disease risk

gan Pickett, Sarah J., Deen, Dasha, Pyle, Angela, Santibanez-Koref, Mauro, Hudson, Gavin
Cyhoeddwyd yn Mitochondrion (2022)

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

gan Pyle, Angela, Anugrha, Haidyan, Kurzawa-Akanbi, Marzena, Yarnall, Alison, Burn, David, Hudson, Gavin
Cyhoeddwyd yn Neurobiol Aging (2016)

Somatic mtDNA variation is an important component of Parkinson's disease

gan Coxhead, Jonathan, Kurzawa-Akanbi, Marzena, Hussain, Rafiqul, Pyle, Angela, Chinnery, Patrick, Hudson, Gavin
Cyhoeddwyd yn Neurobiol Aging (2016)

Mitochondrial DNA Damage and Brain Aging in Human Immunodeficiency Virus

gan Roca-Bayerri, Carla, Robertson, Fiona, Pyle, Angela, Hudson, Gavin, Payne, Brendan A I
Cyhoeddwyd yn Clin Infect Dis (2020)

Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis

gan Pyle, Angela, Burn, David J., Gordon, Charlotte, Swan, Catherine, Chinnery, Patrick F., Baudouin, Simon V.
Cyhoeddwyd 2010

The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy

gan Bansagi, Boglarka, Griffin, Helen, Ramesh, Venkateswaran, Duff, Jennifer, Pyle, Angela, Chinnery, Patrick F., Horvath, Rita
Cyhoeddwyd yn Brain (2015)

A woman with intellectual disability, amenorrhoea, seizures and balance problems

gan Hughes, Alastair JC, Steele, Hannah E, Pyle, Angela, Hart, Yvonne, Quinton, Richard, Chinnery, Patrick F
Cyhoeddwyd yn JAMA Neurol (2016)

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

gan Yu-Wai-Man, Patrick, Pyle, Angela, Griffin, Helen, Santibanez-Korev, Mauro, Horvath, Rita, Chinnery, Patrick F
Cyhoeddwyd 2014

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

gan Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Kleinle, Stephanie, Eglon, Gail, Pyle, Angela, Chinnery, Patrick F., Horvath, Rita
Cyhoeddwyd yn J Neurol (2015)

SCP2 mutations and neurodegeneration with brain iron accumulation

gan Horvath, Rita, Lewis-Smith, David, Douroudis, Konstantinos, Duff, Jennifer, Keogh, Michael, Pyle, Angela, Fletcher, Nicholas, Chinnery, Patrick F.
Cyhoeddwyd yn Neurology (2015)

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation

gan Pyle, Angela, Taylor, Robert W, Durham, Steve E, Deschauer, Marcus, Schaefer, Andrew M, Samuels, David C, Chinnery, Patrick F
Cyhoeddwyd 2007

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

gan Boczonadi, Veronika, Smith, Paul M., Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F., Horvath, Rita
Cyhoeddwyd 2013

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

gan Pyle, Angela, Hudson, Gavin, Wilson, Ian J., Coxhead, Jonathan, Smertenko, Tania, Herbert, Mary, Santibanez-Koref, Mauro, Chinnery, Patrick F.
Cyhoeddwyd yn PLoS Genet (2015)

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB

gan Keogh, Michael J., Pyle, Angela, Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Eglon, Gail, Miller, James, Horvath, Rita, Chinnery, Patrick F.
Cyhoeddwyd yn Neurology (2015)

Reduced CSF mitochondrial DNA is a biomarker for early-stage Parkinson’s disease

gan Pyle, Angela, Brennan, Rebecca, Kurzawa-Akanbi, Marzena, Yarnall, Alison, Thouin, Anais, Mollenhauer, Brit, Burn, David, Chinnery, Patrick F., Hudson, Gavin
Cyhoeddwyd yn Ann Neurol (2015)

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridisation

gan Pyle, Angela, Griffin, Helen, Duff, Jennifer, Zwolinski, Simon, Smertenko, Tania, Yu-Wai-Man, Patrick, Santibanez-Koref, Mauro, Horvath, Rita, Chinnery, Patrick F.
Cyhoeddwyd 2013