Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy

af King, Martin S., Thompson, Kyle, Hopton, Sila, He, Langping, Kunji, Edmund R.S., Taylor, Robert W., Ortiz-Gonzalez, Xilma R.
Udgivet i Neurol Genet (2018)

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

af Blakely, Emma L., Butterworth, Anna, Hadden, Robert D.M., Bodi, Istvan, He, Langping, McFarland, Robert, Taylor, Robert W.
Udgivet 2012

Near identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium and hair follicles in twins with optic atrophy, ptosis and intractable epilepsy

af Spyropoulos, Achilles, Manford, Mark, Horvath, Rita, Alston, Charlotte L, Yu-Wai-Man, Patrick, He, Langping, Taylor, Robert W., Chinnery, Patrick F.
Udgivet i JAMA Neurol (2013)

Maternally inherited mitochondrial DNA disease in consanguineous families

af Alston, Charlotte L, He, Langping, Morris, Andrew A, Hughes, Imelda, Goede, Christian de, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W
Udgivet 2011

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR

af He, Langping, Chinnery, Patrick F., Durham, Steve E., Blakely, Emma L., Wardell, Theresa M., Borthwick, Gillian M., Taylor, Robert W., Turnbull, Douglass M.
Udgivet 2002

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

af Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K., Blakely, Emma L., He, Langping, McFarland, Robert, Taylor, Robert W., Vogt, Julie, Milford, David V.
Udgivet i BMC Res Notes (2016)

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

af Sommerville, Ewen W., Alston, Charlotte L., Pyle, Angela, He, Langping, Falkous, Gavin, Naismith, Karen, Chinnery, Patrick F., McFarland, Robert, Taylor, Robert W.
Udgivet i Neurol Genet (2017)

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

af Zagnoli-Vieira, Guido, Bruni, Francesco, Thompson, Kyle, He, Langping, Walker, Sarah, de Brouwer, Arjan P.M., Taylor, Robert, Niyazov, Dmitriy, Caldecott, Keith W.
Udgivet i Neurol Genet (2018)

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

af Casey, Jillian P., Crushell, Ellen, Thompson, Kyle, Twomey, Eilish, He, Langping, Ennis, Sean, Philip, Roy K., Taylor, Robert W., King, Mary D., Lynch, Sally Ann
Udgivet i JIMD Rep (2015)

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

af Lim, Albert Z., Blakely, Emma L., Baty, Karen, He, Langping, Hopton, Sila, Falkous, Gavin, McWilliam, Kenneth, Cozens, Alison, McFarland, Robert, Taylor, Robert W.
Udgivet i Mitochondrion (2019)

Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles

af Yu-Wai-Man, Patrick, Lai-Cheong, Joey, Borthwick, Gillian M., He, Langping, Taylor, Geoffrey A., Greaves, Laura C., Taylor, Robert W., Griffiths, Philip G., Turnbull, Douglass M.
Udgivet 2010

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

af Ahmed, Syeda T., Alston, Charlotte L., Hopton, Sila, He, Langping, Hargreaves, Iain P., Falkous, Gavin, Oláhová, Monika, McFarland, Robert, Turnbull, Doug M., Rocha, Mariana C., Taylor, Robert W.
Udgivet i Sci Rep (2017)

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

af Oláhová, Monika, Berti, Camilla Ceccatelli, Collier, Jack J, Alston, Charlotte L, Jameson, Elisabeth, Jones, Simon A, Edwards, Noel, He, Langping, Chinnery, Patrick F, Horvath, Rita, Goffrini, Paola, Taylor, Robert W, Sayer, John A
Udgivet i Hum Mol Genet (2019)

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency()

af Almalki, Abdulraheem, Alston, Charlotte L., Parker, Alasdair, Simonic, Ingrid, Mehta, Sarju G., He, Langping, Reza, Mojgan, Oliveira, Jorge M.A., Lightowlers, Robert N., McFarland, Robert, Taylor, Robert W., Chrzanowska-Lightowlers, Zofia M.A.
Udgivet 2014

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

af Oláhová, Monika, Haack, Tobias B, Alston, Charlotte L, Houghton, Jessica AC, He, Langping, Morris, Andrew AM, Brown, Garry K, McFarland, Robert, Chrzanowska-Lightowlers, Zofia MA, Lightowlers, Robert N, Prokisch, Holger, Taylor, Robert W
Udgivet i Eur J Hum Genet (2015)

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

af Wesolowska, Maria, Gorman, Grainne S., Alston, Charlotte L., Pajak, Aleksandra, Pyle, Angela, He, Langping, Griffin, Helen, Chinnery, Patrick F., Miller, James A.L., Schaefer, Andrew M., Taylor, Robert W., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.
Udgivet i J Neuromuscul Dis (2015)

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

af Alston, Charlotte L, Davison, James E, Meloni, Francesca, van der Westhuizen, Francois H, He, Langping, Hornig-Do, Hue-Tran, Peet, Andrew C, Gissen, Paul, Goffrini, Paola, Ferrero, Ileana, Wassmer, Evangeline, McFarland, Robert, Taylor, Robert W
Udgivet 2012

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

af Alston, Charlotte L., Ceccatelli Berti, Camilla, Blakely, Emma L., Oláhová, Monika, He, Langping, McMahon, Colin J., Olpin, Simon E., Hargreaves, Iain P., Nolli, Cecilia, McFarland, Robert, Goffrini, Paola, O’Sullivan, Maureen J., Taylor, Robert W.
Udgivet i Hum Genet (2015)

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

af Alston, Charlotte L., Schaefer, Andrew M., Raman, Pravrutha, Solaroli, Nicola, Krishnan, Kim J., Blakely, Emma L., He, Langping, Craig, Kate, Roberts, Mark, Vyas, Aashish, Nixon, John, Horvath, Rita, Turnbull, Douglass M., Karlsson, Anna, Gorman, Grainne S., Taylor, Robert W.
Udgivet 2013

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

af Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernández-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jiménez-Mallebrera, Cecilia, Armstrong, Judith, Montero, Raquel, Artuch, Rafael, Tischner, Christin, Wenz, Tina, McFarland, Robert, Taylor, Robert W.
Udgivet i Front Genet (2015)