Inclusive Play-Based Learning: Approaches from Enacting Kindergarten Teachers

por Danniels, Erica, Pyle, Angela
Publicado 2022

Cell-free mitochondrial DNA in progressive multiple sclerosis

por Lowes, Hannah, Pyle, Angela, Duddy, Martin, Hudson, Gavin
Publicado 2019

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

por Lowes, Hannah, Pyle, Angela, Santibanez-Koref, Mauro, Hudson, Gavin
Publicado 2020

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

por Lowes, Hannah, Kurzawa-Akanbi, Marzena, Pyle, Angela, Hudson, Gavin
Publicado 2020

Interrogating Mitochondrial Biology and Disease Using CRISPR/Cas9 Gene Editing

por Tang, Jia-Xin, Pyle, Angela, Taylor, Robert W., Oláhová, Monika
Publicado 2021

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

por Pfeffer, Gerald, Griffin, Helen, Pyle, Angela, Horvath, Rita, Chinnery, Patrick F.
Publicado 2014

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

por Pyle, Angela, Anugrha, Haidyan, Kurzawa-Akanbi, Marzena, Yarnall, Alison, Burn, David, Hudson, Gavin
Publicado 2016

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

por Coxhead, Jonathan, Kurzawa-Akanbi, Marzena, Hussain, Rafiqul, Pyle, Angela, Chinnery, Patrick, Hudson, Gavin
Publicado 2016

Mitochondrial DNA Damage and Brain Aging in Human Immunodeficiency Virus

por Roca-Bayerri, Carla, Robertson, Fiona, Pyle, Angela, Hudson, Gavin, Payne, Brendan A I
Publicado 2020

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

por Bansagi, Boglarka, Griffin, Helen, Ramesh, Venkateswaran, Duff, Jennifer, Pyle, Angela, Chinnery, Patrick F., Horvath, Rita
Publicado 2015

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

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

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

por Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Kleinle, Stephanie, Eglon, Gail, Pyle, Angela, Chinnery, Patrick F., Horvath, Rita
Publicado 2015

A subcellular cookie cutter for spatial genomics in human tissue

por Bury, Alexander G., Pyle, Angela, Marcuccio, Fabio, Turnbull, Doug M., Vincent, Amy E., Hudson, Gavin, Actis, Paolo
Publicado 2022

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

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

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

por Pyle, Angela, Hudson, Gavin, Wilson, Ian J., Coxhead, Jonathan, Smertenko, Tania, Herbert, Mary, Santibanez-Koref, Mauro, Chinnery, Patrick F.
Publicado 2015

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

por Keogh, Michael J., Pyle, Angela, Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Eglon, Gail, Miller, James, Horvath, Rita, Chinnery, Patrick F.
Publicado 2015

Feasibility and impact of haplogroup matching for mitochondrial replacement treatment

por Takeda, Yuko, Hyslop, Louise, Choudhary, Meenakshi, Robertson, Fiona, Pyle, Angela, Wilson, Ian, Santibanez‐Koref, Mauro, Turnbull, Douglass, Herbert, Mary, Hudson, Gavin
Publicado 2023

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

por McMacken, Grace, Lochmüller, Hanns, Bansagi, Boglarka, Pyle, Angela, Lochmüller, Angela, Chinnery, Patrick F., Laurie, Steve, Beltran, Sergi, Matalonga, Leslie, Horvath, Rita
Publicado 2020

MFN2 mutations cause compensatory mitochondrial DNA proliferation

por Sitarz, Kamil S., Yu-Wai-Man, Patrick, Pyle, Angela, Stewart, Joanna D., Rautenstrauss, Bernd, Seeman, Pavel, Reilly, Mary M., Horvath, Rita, Chinnery, Patrick F.
Publicado 2012

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

por Sommerville, Ewen W., Alston, Charlotte L., Pyle, Angela, He, Langping, Falkous, Gavin, Naismith, Karen, Chinnery, Patrick F., McFarland, Robert, Taylor, Robert W.
Publicado 2017