1. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency. Issue 1 (8th November 2017) Authors: Malicdan, May Christine V.; Vilboux, Thierry; Ben‐Zeev, Bruria; Guo, Jennifer; Eliyahu, Aviva; Pode‐Shakked, Ben; Dori, Amir; Kakani, Sravan; Chandrasekharappa, Settara C.; Ferreira, Carlos R.; Shelestovich, Natalia; Marek‐Yagel, Dina; Pri‐Chen, Hadass; Blatt, Ilan; Niederhuber, John E.; He, Lang... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Issue 9 (18th April 2016) Authors: Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, ... Journal: Journal of medical genetics Issue: Volume 53:Issue 9(2016) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I. Issue 11 (24th September 2020) Authors: Alahmad, Ahmad; Nasca, Alessia; Heidler, Juliana; Thompson, Kyle; Oláhová, Monika; Legati, Andrea; Lamantea, Eleonora; Meisterknecht, Jana; Spagnolo, Manuela; He, Langping; Alameer, Seham; Hakami, Fahad; Almehdar, Abeer; Ardissone, Anna; Alston, Charlotte L; McFarland, Robert; Wittig, Ilka; Ghezz... Journal: EMBO molecular medicine Issue: Volume 12:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report. (December 2016) Authors: Gupta, Asheeta; Colmenero, Isabel; Ragge, Nicola; Blakely, Emma; He, Langping; McFarland, Robert; Taylor, Robert; Vogt, Julie; Milford, David Journal: BMC research notes Issue: Volume 9:Number 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23). (August 2018) Authors: Zagnoli-Vieira, Guido; Bruni, Francesco; Thompson, Kyle; He, Langping; Walker, Sarah; de Brouwer, Arjan P.M.; Taylor, Robert; Niyazov, Dmitriy; Caldecott, Keith W. Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. (October 2017) Authors: Sommerville, Ewen W.; Alston, Charlotte L.; Pyle, Angela; He, Langping; Falkous, Gavin; Naismith, Karen; Chinnery, Patrick F.; McFarland, Robert; Taylor, Robert W. Journal: Neurology Issue: Volume 3:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy. (August 2018) Authors: King, Martin S.; Thompson, Kyle; Hopton, Sila; He, Langping; Kunji, Edmund R.S.; Taylor, Robert W.; Ortiz-Gonzalez, Xilma R. Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance. Issue 2 (14th November 2019) Authors: Sommerville, Ewen W.; Dalla Rosa, Ilaria; Rosenberg, Masha M.; Bruni, Francesco; Thompson, Kyle; Rocha, Mariana; Blakely, Emma L.; He, Langping; Falkous, Gavin; Schaefer, Andrew M.; Yu‐Wai‐Man, Patrick; Chinnery, Patrick F.; Hedstrom, Lizbeth; Spinazzola, Antonella; Taylor, Robert W.; Gorman, Grá... Journal: Clinical genetics Issue: Volume 97:Issue 2(2020) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗