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

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

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

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

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

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

Maternally inherited mitochondrial DNA disease in consanguineous families

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

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

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

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

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

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

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

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

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

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

由 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
發表在 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

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

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

由 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.
出版 2010

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

由 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.
發表在 Sci Rep (2017)

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

由 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
發表在 Hum Mol Genet (2019)

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

由 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.
出版 2014

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

由 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
發表在 Eur J Hum Genet (2015)

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

由 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.
發表在 J Neuromuscul Dis (2015)

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

由 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
出版 2012

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

由 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.
發表在 Hum Genet (2015)

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

由 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.
出版 2013

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

由 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.
發表在 Front Genet (2015)