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Author/Creator McFarland, Robert

4. 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
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5. 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
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6. 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
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7. 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
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8. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Issue 5 (14th April 2015)

Authors:
Huemer, Martina; Karall, Daniela; Schossig, Anna; Abdenur, Jose E.; Al Jasmi, Fatma; Biagosch, Caroline; Distelmaier, Felix; Freisinger, Peter; Graham, Brett H.; Haack, Tobias B.; Hauser, Natalie; Hertecant, Jozef; Ebrahimi‐Fakhari, Darius; Konstantopoulou, Vassiliki; Leydiker, Karen; Lourenco, C...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 5(2015)
Page Start:
905
Record Type:
Journal Article
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9. Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability. Issue 5 (27th March 2019)

Authors:
Moore, Heather L.; Kelly, Thomas; Bright, Alexandra; Field, Robert H.; Schaefer, Andrew M.; Blain, Alasdair P.; Taylor, Robert W.; McFarland, Robert; Turnbull, Doug M.; Gorman, Gráinne S.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 5(2019)
Page Start:
826
Record Type:
Journal Article
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10. Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome". Issue 1 (18th November 2020)

Authors:
Bindoff, Laurence A.; Brown, David A.; Gorman, Gráinne S.; Karaa, Amel; Keshavan, Nandaki; Lamperti, Constanza; Mancuso, Michelangelo; McFarland, Robert; Ng, Yi Shiau; O'Callaghan, Mar; Pitceathly, Robert D. S.; Rahman, Shamima; Russel, Frans G. M.; Schirris, Tom J. J.; Varhaug, Kristin N.; De Vr...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 1(2021)
Page Start:
6
Record Type:
Journal Article
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