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Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I.
Published in:
EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.202012619
By:
- 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;
- Ghezzi, Daniele;
- Taylor, Robert W
Publication type:
Article
Metabolic effects of bezafibrate in mitochondrial disease.
Published in:
EMBO Molecular Medicine, 2020, v. 12, n. 3, p. 1, doi. 10.15252/emmm.201911589
By:
- Steele, Hannah;
- Gomez‐Duran, Aurora;
- Pyle, Angela;
- Hopton, Sila;
- Newman, Jane;
- Stefanetti, Renae J;
- Charman, Sarah J;
- Parikh, Jehill D;
- He, Langping;
- Viscomi, Carlo;
- Jakovljevic, Djordje G;
- Hollingsworth, Kieren G;
- Robinson, Alan J;
- Taylor, Robert W;
- Bottolo, Leonardo;
- Horvath, Rita;
- Chinnery, Patrick F
Publication type:
Article
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Published in:
EMBO Molecular Medicine, 2018, v. 10, n. 11, p. N.PAG, doi. 10.15252/emmm.201809060
By:
- Thompson, Kyle;
- Mai, Nicole;
- Oláhová, Monika;
- Scialó, Filippo;
- Formosa, Luke E;
- Stroud, David A;
- Garrett, Madeleine;
- Lax, Nichola Z;
- Robertson, Fiona M;
- Jou, Cristina;
- Nascimento, Andres;
- Ortez, Carlos;
- Jimenez‐Mallebrera, Cecilia;
- Hardy, Steven A;
- He, Langping;
- Brown, Garry K;
- Marttinen, Paula;
- McFarland, Robert;
- Sanz, Alberto;
- Battersby, Brendan J
Publication type:
Article
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Published in:
2015
By:
- Oláhová, Monika;
- Hardy, Steven A.;
- Hall, Julie;
- Yarham, John W.;
- Haack, Tobias B.;
- Wilson, William C.;
- Alston, Charlotte L.;
- He, Langping;
- Aznauryan, Erik;
- Brown, Ruth M.;
- Brown, Garry K.;
- Morris, Andrew A. M.;
- Mundy, Helen;
- Broomfield, Alex;
- Barbosa, Ines A.;
- Simpson, Michael A.;
- Deshpande, Charu;
- Moeslinger, Dorothea;
- Koch, Johannes;
- Stettner, Georg M.
Publication type:
journal article
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.
Published in:
2016
By:
- Gupta, Asheeta;
- Colmenero, Isabel;
- Ragge, Nicola K.;
- Blakely, Emma L.;
- Langping He;
- McFarland, Robert;
- Taylor, Robert W.;
- Vogt, Julie;
- Milford, David V.
Publication type:
Case Study
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Published in:
BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0709-3
By:
- Vona, Barbara;
- Maroofian, Reza;
- Bellacchio, Emanuele;
- Najafi, Maryam;
- Thompson, Kyle;
- Alahmad, Ahmad;
- He, Langping;
- Ahangari, Najmeh;
- Rad, Abolfazl;
- Shahrokhzadeh, Sima;
- Bahena, Paulina;
- Mittag, Falk;
- Traub, Frank;
- Movaffagh, Jebrail;
- Amiri, Nafise;
- Doosti, Mohammad;
- Boostani, Reza;
- Shirzadeh, Ebrahim;
- Haaf, Thomas;
- Diodato, Daria
Publication type:
Article
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 6, p. 500, doi. 10.1111/j.1469-8749.2012.04224.x
By:
- NESBITT, VICTORIA;
- MORRISON, PATRICK J;
- CRUSHELL, ELLEN;
- DONNELLY, DEIRDRE E;
- ALSTON, CHARLOTTE L;
- HE, LANGPING;
- MCFARLAND, ROBERT;
- TAYLOR, ROBERT W
Publication type:
Article
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
Published in:
Human Genetics, 2015, v. 134, n. 8, p. 869, doi. 10.1007/s00439-015-1568-z
By:
- Alston, Charlotte;
- Ceccatelli Berti, Camilla;
- Blakely, Emma;
- Oláhová, Monika;
- He, Langping;
- McMahon, Colin;
- Olpin, Simon;
- Hargreaves, Iain;
- Nolli, Cecilia;
- McFarland, Robert;
- Goffrini, Paola;
- O'Sullivan, Maureen;
- Taylor, Robert
Publication type:
Article
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Published in:
2015
By:
- 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.
Publication type:
Correction Notice
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Published in:
Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00102
By:
- Brito, Sara;
- Thompson, Kyle;
- Campistol, Jaume;
- Colomer, Jaime;
- Hardy, Steven A.;
- Langping He;
- Fernández-Marmiesse, Ana;
- Palacios, Lourdes;
- Jou, Cristina;
- Jiménez-Mallebrera, Cecilia;
- Armstrong, Judith;
- Montero, Raquel;
- Artuch, Rafael;
- Tischner, Christin;
- Tina Wenz;
- McFarland, Robert;
- Taylor, Robert W.
Publication type:
Article
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 7, p. 935, doi. 10.1038/ejhg.2014.214
By:
- 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
Publication type:
Article
Maternally inherited mitochondrial DNA disease in consanguineous families.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1226, doi. 10.1038/ejhg.2011.124
By:
- Alston, Charlotte L;
- He, Langping;
- Morris, Andrew A;
- Hughes, Imelda;
- Goede, Christian de;
- Turnbull, Douglass M;
- McFarland, Robert;
- Taylor, Robert W
Publication type:
Article
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1265, doi. 10.1038/ejhg.2008.65
By:
- Swalwell, Helen;
- Blakely, Emma L.;
- Sutton, Ruth;
- Tonska, Kasia;
- Elstner, Matthias;
- Langping He;
- Taivassalo, Tanja;
- Burns, Dennis K.;
- Turnbull, Douglass M.;
- Haller, Ronald G.;
- Davidson, Mercy M.;
- Taylor, Robert W.
Publication type:
Article
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.
Published in:
Clinical Science, 2015, v. 128, n. 12, p. 895, doi. 10.1042/CS20140705
By:
- Gorman, Grainne S.;
- Blakely, Emma L.;
- Hue Tran Hornig Do;
- Tuppen, Helen A. L.;
- Greaves, Laura C.;
- Langping He;
- Baker, Angela;
- Falkous, Gavin;
- Newman, Jane;
- Trenell, Michael I.;
- Lecky, Bryan;
- Petty, Richard K.;
- Turnbull, Doug M.;
- McFarland, Robert;
- Taylor, Robert W.
Publication type:
Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Published in:
JAMA Neurology, 2017, v. 74, n. 6, p. 686, doi. 10.1001/jamaneurol.2016.4357
By:
- Sommerville, Ewen W.;
- Yi Shiau Ng;
- Alston, Charlotte L.;
- Dallabona, Cristina;
- Gilberti, Micol;
- Langping He;
- Knowles, Charlotte;
- Chin, Sophie L.;
- Schaefer, Andrew M.;
- Falkous, Gavin;
- Murdoch, David;
- Longman, Cheryl;
- de Visser, Marianne;
- Bindoff, Laurence A.;
- Rawles, John M.;
- Dean, John C. S.;
- Petty, Richard K.;
- Farrugia, Maria E.;
- Haack, Tobias B.;
- Prokisch, Holger
Publication type:
Article
Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy.
Published in:
JAMA Neurology, 2013, v. 70, n. 12, p. 1552, doi. 10.1001/jamaneurol.2013.4111
By:
- Spyropoulos, Achilles;
- Manford, Mark;
- Horvath, Rita;
- Alston, Charlotte L.;
- Yu-Wai-Man, Patrick;
- Langping He;
- Taylor, Robert W.;
- Chinnery, Patrick F.
Publication type:
Article
Detection and quantification of mitochondrial DNA deletions in individual cells by real‐time PCR.
Published in:
Nucleic Acids Research, 2002, v. 30, n. 14, p. e68
By:
- He, Langping;
- Chinnery, Patrick F.;
- Durham, Steve E.;
- Blakely, Emma L.;
- Wardell, Theresa M.;
- Borthwick, Gillian M.;
- Taylor, Robert W.;
- Turnbull, Douglass M.
Publication type:
Article
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3392, doi. 10.1093/brain/aws231
By:
- Pitceathly, Robert D. S.;
- Smith, Conrad;
- Fratter, Carl;
- Alston, Charlotte L.;
- He, Langping;
- Craig, Kate;
- Blakely, Emma L.;
- Evans, Julie C.;
- Taylor, John;
- Shabbir, Zarfishan;
- Deschauer, Marcus;
- Pohl, Ute;
- Roberts, Mark E.;
- Jackson, Matthew C.;
- Halfpenny, Christopher A.;
- Turnpenny, Peter D.;
- Lunt, Peter W.;
- Hanna, Michael G.;
- Schaefer, Andrew M.;
- McFarland, Robert
Publication type:
Article
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 2952, doi. 10.1093/brain/awq232
By:
- Tuppen, Helen A. L.;
- Hogan, Vanessa E.;
- Langping He;
- Blakely, Emma L.;
- Worgan, Lisa;
- Al-Dosary, Mazhor;
- Saretzki, Gabriele;
- Alston, Charlotte L.;
- Morris, Andrew A.;
- Clarke, Michael;
- Jones, Simon;
- Devlin, Anita M.;
- Mansour, Sahar;
- Chrzanowska-Lightowlers, Zofia M. A.;
- Thorburn, David R.;
- McFarland, Robert;
- Taylor, Robert W.
Publication type:
Article
Resistance training in patients with single, large-scale deletions of mitochondrial DNA.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 11, p. 2832, doi. 10.1093/brain/awn252
By:
- Julie L. Murphy;
- Emma L. Blakely;
- Andrew M. Schaefer;
- Langping He;
- Phil Wyrick;
- Ronald G. Haller;
- Robert W. Taylor;
- Douglass M. Turnbull;
- Tanja Taivassalo
Publication type:
Article
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 329, doi. 10.1093/brain/awm272
By:
- Gavin Hudson;
- Patrizia Amati-Bonneau;
- Emma L. Blakely;
- Joanna D. Stewart;
- Langping He;
- Andrew M. Schaefer;
- Philip G. Griffiths;
- Kati Ahlqvist;
- Anu Suomalainen;
- Pascal Reynier;
- Robert McFarland;
- Douglass M. Turnbull;
- Patrick F. Chinnery;
- Robert W. Taylor
Publication type:
Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
By:
- Hayhurst, Hannah;
- de Coo, Irenaeus F. M.;
- Piekutowska‐Abramczuk, Dorota;
- Alston, Charlotte L.;
- Sharma, Sunil;
- Thompson, Kyle;
- Rius, Rocio;
- He, Langping;
- Hopton, Sila;
- Ploski, Rafal;
- Ciara, Elzbieta;
- Lake, Nicole J.;
- Compton, Alison G.;
- Delatycki, Martin B.;
- Verrips, Aad;
- Bonnen, Penelope E.;
- Jones, Simon A.;
- Morris, Andrew A.;
- Shakespeare, David;
- Christodoulou, John
Publication type:
Article
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
Published in:
Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 4, doi. 10.1002/acn3.361
By:
- Van Maldergem, Lionel;
- Besse, Arnaud;
- De Paepe, Boel;
- Blakely, Emma L.;
- Appadurai, Vivek;
- Humble, Margaret M.;
- Piard, Juliette;
- Craig, Kate;
- He, Langping;
- Hella, Pierre;
- Debray, François‐Guillaume;
- Martin, Jean‐Jacques;
- Gaussen, Marion;
- Laloux, Patrice;
- Stevanin, Giovanni;
- Van Coster, Rudy;
- Taylor, Robert W.;
- Copeland, William C.;
- Mormont, Eric;
- Bonnen, Penelope E.
Publication type:
Article
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.
Published in:
Clinical Genetics, 2020, v. 97, n. 2, p. 276, doi. 10.1111/cge.13652
By:
- 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, Gráinne S.
Publication type:
Article
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Published in:
2018
By:
- Rocha, Mariana C.;
- Rosa, Hannah S.;
- Grady, John P.;
- Blakely, Emma L.;
- He, Langping;
- Romain, Nadine;
- Haller, Ronald G.;
- Newman, Jane;
- McFarland, Robert;
- Ng, Yi Shiau;
- Gorman, Grainne S.;
- Schaefer, Andrew M.;
- Tuppen, Helen A.;
- Taylor, Robert W.;
- Turnbull, Doug M.
Publication type:
journal article
Prevalence of mitochondrial DNA disease in adults.
Published in:
Annals of Neurology, 2008, v. 63, n. 1, p. 35, doi. 10.1002/ana.21217
By:
- Schaefer, Andrew M.;
- McFarland, Robert;
- Blakely, Emma L.;
- He, Langping;
- Whittaker, Roger G.;
- Taylor, Robert W.;
- Chinnery, Patrick F.;
- Turnbull, Douglass M.
Publication type:
Article
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 22, p. 3766, doi. 10.1093/hmg/ddz202
By:
- 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
Publication type:
Article
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 2, p. 258, doi. 10.1093/hmg/ddy294
By:
- Sommerville, Ewen W;
- Zhou, Xiao-Long;
- Oláhová, Monika;
- Jenkins, Janda;
- Euro, Liliya;
- Konovalova, Svetlana;
- Hilander, Taru;
- Pyle, Angela;
- He, Langping;
- Habeebu, Sultan;
- Saunders, Carol;
- Kelsey, Anna;
- Morris, Andrew A M;
- McFarland, Robert;
- Suomalainen, Anu;
- Gorman, Gráinne S;
- Wang, En-Duo;
- Thiffault, Isabelle;
- Tyynismaa, Henna;
- Taylor, Robert W
Publication type:
Article
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
Published in:
Acta Neuropathologica, 2013, v. 125, n. 6, p. 917, doi. 10.1007/s00401-013-1113-x
By:
- Henderson, Matthew;
- Waele, Liesbeth;
- Hudson, Judith;
- Eagle, Michelle;
- Sewry, Caroline;
- Marsh, Julie;
- Charlton, Richard;
- He, Langping;
- Blakely, Emma;
- Horrocks, Iain;
- Stewart, William;
- Taylor, Robert;
- Longman, Cheryl;
- Bushby, Kate;
- Barresi, Rita
Publication type:
Article
Defective i<sup>6</sup>A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA.
Published in:
PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004424
By:
- Yarham, John W.;
- Lamichhane, Tek N.;
- Pyle, Angela;
- Mattijssen, Sandy;
- Baruffini, Enrico;
- Bruni, Francesco;
- Donnini, Claudia;
- Vassilev, Alex;
- He, Langping;
- Blakely, Emma L.;
- Griffin, Helen;
- Santibanez-Koref, Mauro;
- Bindoff, Laurence A.;
- Ferrero, Ileana;
- Chinnery, Patrick F.;
- McFarland, Robert;
- Maraia, Richard J.;
- Taylor, Robert W.
Publication type:
Article
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Published in:
Molecular Biology Reports, 2021, v. 48, n. 3, p. 2093, doi. 10.1007/s11033-021-06188-1
By:
- Horga, Alejandro;
- Manole, Andreea;
- Mitchell, Alice L.;
- Bugiardini, Enrico;
- Hargreaves, Iain P.;
- Mowafi, Walied;
- Bettencourt, Conceição;
- Blakely, Emma L.;
- He, Langping;
- Polke, James M.;
- Woodward, Catherine E.;
- Dalla Rosa, Ilaria;
- Shah, Sachit;
- Pittman, Alan M.;
- Quinlivan, Ros;
- Reilly, Mary M.;
- Taylor, Robert W.;
- Holt, Ian J.;
- Hanna, Michael G.;
- Pitceathly, Robert D. S.
Publication type:
Article
Clinical, biochemical, and genetic features associated with <italic>VARS2</italic>‐related mitochondrial disease.
Published in:
Human Mutation, 2018, v. 39, n. 4, p. 563, doi. 10.1002/humu.23398
By:
- 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, Penelope E.;
- Enrico, Bertini;
- Pronicka, Ewa;
- Ghezzi, Daniele
Publication type:
Article
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Published in:
Human Mutation, 2018, v. 39, n. 1, p. 69, doi. 10.1002/humu.23345
By:
- 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, Langping;
- Toro, Camilo;
- Taylor, Robert W.;
- Deeken, John;
- Yardeni, Tal
Publication type:
Article
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-41483-9
By:
- Perli, Elena;
- Pisano, Annalinda;
- Glasgow, Ruth I. C.;
- Carbo, Miriam;
- Hardy, Steven A.;
- Falkous, Gavin;
- He, Langping;
- Cerbelli, Bruna;
- Pignataro, Maria Gemma;
- Zacara, Elisabetta;
- Re, Federica;
- Della Monica, Paola Lilla;
- Morea, Veronica;
- Bonnen, Penelope E.;
- Taylor, Robert W.;
- d’Amati, Giulia;
- Giordano, Carla
Publication type:
Article
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies.
Published in:
JAMA: Journal of the American Medical Association, 2014, v. 312, n. 1, p. 68, doi. 10.1001/jama.2014.7184
By:
- Taylor, Robert W.;
- Pyle, Angela;
- Griffin, Helen;
- Blakely, Emma L.;
- Duff, Jennifer;
- Langping He;
- Smertenko, Tania;
- Alston, Charlotte L.;
- Neeve, Vivienne C.;
- Best, Andrew;
- Yarham, John W.;
- Kirschner, Janbernd;
- Schara, Ulrike;
- Talim, Beril;
- Topaloglu, Haluk;
- Baric, Ivo;
- Holinski-Feder, Elke;
- Abicht, Angela;
- Czermin, Birgit;
- Kleinle, Stephanie
Publication type:
Article
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
Published in:
Neurogenetics, 2017, v. 18, n. 4, p. 227, doi. 10.1007/s10048-017-0526-4
By:
- Glasgow, Ruth;
- Thompson, Kyle;
- Barbosa, Inês;
- He, Langping;
- Alston, Charlotte;
- Deshpande, Charu;
- Simpson, Michael;
- Morris, Andrew;
- Neu, Axel;
- Löbel, Ulrike;
- Hall, Julie;
- Prokisch, Holger;
- Haack, Tobias;
- Hempel, Maja;
- McFarland, Robert;
- Taylor, Robert
Publication type:
Article

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