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ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Published in:
2017
By:
- Desai, Radha;
- Frazier, Ann E.;
- Durigon, Romina;
- Patel, Harshil;
- Jones, Aleck W.;
- Rosa, Ilaria Dalla;
- Lake, Nicole J.;
- Compton, Alison G.;
- Mountford, Hayley S.;
- Tucker, Elena J.;
- Mitchell, Alice L. R.;
- Jackson, Deborah;
- Sesay, Abdul;
- Di Re, Miriam;
- van den Heuvel, Lambert P.;
- Burke, Derek;
- Francis, David;
- Lunke, Sebastian;
- McGillivray, George;
- Mandelstam, Simone
Publication type:
journal article
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Published in:
Human Genetics, 2023, v. 142, n. 7, p. 879, doi. 10.1007/s00439-023-02563-z
By:
- Bakhshalizadeh, Shabnam;
- Hock, Daniella H.;
- Siddall, Nicole A.;
- Kline, Brianna L.;
- Sreenivasan, Rajini;
- Bell, Katrina M.;
- Casagranda, Franca;
- Kamalanathan, Sadishkumar;
- Sahoo, Jayaprakash;
- Narayanan, Niya;
- Naik, Dukhabandhu;
- Suryadevara, Varun;
- Compton, Alison G.;
- Amarasekera, Sumudu S. C.;
- Kapoor, Ridam;
- Jaillard, Sylvie;
- Simpson, Andrea;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Pachernegg, Svenja
Publication type:
Article
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 2020, doi. 10.3390/jcm8112020
By:
- Rius, Rocio;
- Van Bergen, Nicole J.;
- Compton, Alison G.;
- Riley, Lisa G.;
- Kava, Maina P.;
- Balasubramaniam, Shanti;
- Amor, David J.;
- Fanjul-Fernandez, Miriam;
- Cowley, Mark J.;
- Fahey, Michael C.;
- Koenig, Mary K.;
- Enns, Gregory M.;
- Sadedin, Simon;
- Wilson, Meredith J.;
- Tan, Tiong Y.;
- Thorburn, David R.;
- Christodoulou, John
Publication type:
Article
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome.
Published in:
Pediatrics International, 2014, v. 56, n. 2, p. 180, doi. 10.1111/ped.12249
By:
- Yamazaki, Taro;
- Murayama, Kei;
- Compton, Alison G;
- Sugiana, Canny;
- Harashima, Hiroko;
- Amemiya, Shin;
- Ajima, Masami;
- Tsuruoka, Tomoko;
- Fujinami, Ayako;
- Kawachi, Emi;
- Kurashige, Yoshiko;
- Matsushita, Kenshi;
- Wakiguchi, Hiroshi;
- Mori, Masato;
- Iwasa, Hiroyasu;
- Okazaki, Yasushi;
- Thorburn, David R;
- Ohtake, Akira
Publication type:
Article
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1599, doi. 10.1002/ajmg.a.63170
By:
- Kiss, Sharmila;
- Christodoulou, John;
- Thorburn, David R.;
- Freeman, Jeremy L.;
- Kornberg, Andrew J.;
- Mandelstam, Simone;
- Compton, Alison G.;
- Cummings, Beryl;
- Pais, Lynn;
- Yaplito‐Lee, Joy;
- White, Susan M.
Publication type:
Article
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1330, doi. 10.1002/ajmg.a.36968
By:
- Mordaunt, Dylan A.;
- Jolley, Alexandra;
- Balasubramaniam, Shanti;
- Thorburn, David R.;
- Mountford, Hayley S.;
- Compton, Alison G.;
- Nicholl, Jillian;
- Manton, Nicholas;
- Clark, Damian;
- Bratkovic, Drago;
- Friend, Kathryn;
- Yu, Sui
Publication type:
Article
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Published in:
Nature Genetics, 2010, v. 42, n. 10, p. 851, doi. 10.1038/ng.659
By:
- Calvo, Sarah E.;
- Tucker, Elena J.;
- Compton, Alison G.;
- Kirby, Denise M.;
- Crawford, Gabriel;
- Burtt, Noel P.;
- Rivas, Manuel;
- Guiducci, Candace;
- Bruno, Damien L.;
- Goldberger, Olga A.;
- Redman, Michelle C.;
- Wiltshire, Esko;
- Wilson, Callum J.;
- Altshuler, David;
- Gabriel, Stacey B.;
- Daly, Mark J.;
- Thorburn, David R.;
- Mootha, Vamsi K.
Publication type:
Article
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 7, p. 769, doi. 10.1038/ejhg.2011.18
By:
- Swalwell, Helen;
- Kirby, Denise M.;
- Blakely, Emma L.;
- Mitchell, Anna;
- Salemi, Renato;
- Sugiana, Canny;
- Compton, Alison G.;
- Tucker, Elena J;
- Ke, Bi-Xia;
- Lamont, Phillipa J.;
- Turnbull, Douglass M;
- McFarland, Robert;
- Taylor, Robert W.;
- Thorburn, David R.
Publication type:
Article
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 391, doi. 10.1002/jmd2.12303
By:
- Andzelm, Milena M.;
- Balasubramaniam, Shanti;
- Yang, Edward;
- Compton, Alison G.;
- Millington, Kate;
- Zhu, Jia;
- Anselm, Irina;
- Rodan, Lance H.;
- Thorburn, David R.;
- Christodoulou, John;
- Srivastava, Siddharth
Publication type:
Article
Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 240, doi. 10.1002/jmd2.12280
By:
- Akesson, Lauren S.;
- Rius, Rocio;
- Brown, Natasha J.;
- Rosenbaum, Jeremy;
- Donoghue, Sarah;
- Stormon, Michael;
- Chai, Charmaine;
- Bordador, Esmeralda;
- Guo, Yiran;
- Hakonarson, Hakon;
- Compton, Alison G.;
- Thorburn, David R.;
- Amarasekera, Sumudu;
- Marum, Justine;
- Monaco, Alisha;
- Lee, Crystle;
- Chong, Belinda;
- Lunke, Sebastian;
- Stark, Zornitza;
- Christodoulou, John
Publication type:
Article
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.
Published in:
Acta Neuropathologica, 2008, v. 116, n. 3, p. 235, doi. 10.1007/s00401-008-0369-z
By:
- Au, Carol G.;
- Butler, Tanya L.;
- Egan, Jonathan R.;
- Cooper, Sandra T.;
- Lo, Harriet P.;
- Compton, Alison G.;
- North, Kathryn N.;
- Winlaw, David S.
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
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 15, p. 2441, doi. 10.1093/hmg/ddad069
By:
- Amarasekera, Sumudu S C;
- Hock, Daniella H;
- Lake, Nicole J;
- Calvo, Sarah E;
- Grønborg, Sabine W;
- Krzesinski, Emma I;
- Amor, David J;
- Fahey, Michael C;
- Simons, Cas;
- Wibrand, Flemming;
- Mootha, Vamsi K;
- Lek, Monkol;
- Lunke, Sebastian;
- Stark, Zornitza;
- Østergaard, Elsebet;
- Christodoulou, John;
- Thorburn, David R;
- Stroud, David A;
- Compton, Alison G
Publication type:
Article
Leigh syndrome: One disorder, more than 75 monogenic causes.
Published in:
2016
By:
- Lake, Nicole J.;
- Compton, Alison G.;
- Rahman, Shamima;
- Thorburn, David R.
Publication type:
journal article
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 7, p. 2000, doi. 10.1093/hmg/ddu614
By:
- Kumar, Raman;
- Corbett, Mark A.;
- Smith, Nicholas J. C.;
- Jolly, Lachlan A.;
- Tan, Chuan;
- Keating, Damien J.;
- Duffield, Michael D.;
- Utsumi, Toshihiko;
- Moriya, Koko;
- Smith, Katherine R.;
- Hoischen, Alexander;
- Abbott, Kim;
- Harbord, Michael G.;
- Compton, Alison G.;
- Woenig, Joshua A.;
- Arts, Peer;
- Kwint, Michael;
- Wieskamp, Nienke;
- Gijsen, Sabine;
- Veltman, Joris A.
Publication type:
Article
Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 22, p. 4460, doi. 10.1093/hmg/ddt295
By:
- Lim, Sze Chern;
- Friemel, Martin;
- Marum, Justine E.;
- Tucker, Elena J.;
- Bruno, Damien L.;
- Riley, Lisa G.;
- Christodoulou, John;
- Kirk, Edwin P.;
- Boneh, Avihu;
- DeGennaro, Christine M.;
- Springer, Michael;
- Mootha, Vamsi K.;
- Rouault, Tracey A.;
- Leimkühler, Silke;
- Thorburn, David R.;
- Compton, Alison G.
Publication type:
Article
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing.
Published in:
Science Translational Medicine, 2012, v. 4, n. 118, p. 1, doi. 10.1126/scitranslmed.3003310
By:
- Calvo, Sarah E.;
- Compton, Alison G.;
- Hershman, Steven G.;
- Sze Chern Lim;
- Lieber, Daniel S.;
- Tucker, Elena J.;
- Laskowski, Adrienne;
- Garone, Caterina;
- Shangtao Liu;
- Jaffe, David B.;
- Christodoulou, John;
- Fletcher, Janice M.;
- Bruno, Damien L.;
- Goldblatt, Jack;
- DiMauro, Salvatore;
- Thorburn, David R.;
- Mootha, Vamsi K.
Publication type:
Article
Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome <i>b</i> Protein Expression.
Published in:
PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004034
By:
- Tucker, Elena J.;
- Wanschers, Bas F. J.;
- Szklarczyk, Radek;
- Mountford, Hayley S.;
- Wijeyeratne, Xiaonan W.;
- van den Brand, Mariël A. M.;
- Leenders, Anne M.;
- Rodenburg, Richard J.;
- Reljić, Boris;
- Compton, Alison G.;
- Frazier, Ann E.;
- Bruno, Damien L.;
- Christodoulou, John;
- Endo, Hitoshi;
- Ryan, Michael T.;
- Nijtmans, Leo G.;
- Huynen, Martijn A.;
- Thorburn, David R.
Publication type:
Article
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1970, doi. 10.1002/humu.24453
By:
- Rius, Rocio;
- Bennett, Neal K.;
- Bhattacharya, Kaustuv;
- Riley, Lisa G.;
- Yüksel, Zafer;
- Formosa, Luke E.;
- Compton, Alison G.;
- Dale, Russell C.;
- Cowley, Mark J.;
- Gayevskiy, Velimir;
- Al Tala, Saeed M.;
- Almehery, Abdulrahman A.;
- Ryan, Michael T.;
- Thorburn, David R.;
- Nakamura, Ken;
- Christodoulou, John
Publication type:
Article
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 19, doi. 10.1002/humu.24135
By:
- Helman, Guy;
- Compton, Alison G.;
- Hock, Daniella H.;
- Walkiewicz, Marzena;
- Brett, Gemma R.;
- Pais, Lynn;
- Tan, Tiong Y.;
- De Paoli‐Iseppi, Ricardo;
- Clark, Michael B.;
- Christodoulou, John;
- White, Susan M.;
- Thorburn, David R.;
- Stroud, David A.;
- Stark, Zornitza;
- Simons, Cas
Publication type:
Article
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Published in:
Human Mutation, 2020, v. 41, n. 8, p. 1425, doi. 10.1002/humu.24050
By:
- Riley, Lisa G.;
- Rudinger‐Thirion, Joëlle;
- Frugier, Magali;
- Wilson, Meredith;
- Luig, Melissa;
- Alahakoon, Thushari Indika;
- Nixon, Cheng Yee;
- Kirk, Edwin P.;
- Roscioli, Tony;
- Lunke, Sebastian;
- Stark, Zornitza;
- Wierenga, Klaas J.;
- Palle, Sirish;
- Walsh, Maie;
- Higgs, Emily;
- Arbuckle, Susan;
- Thirukeswaran, Shalini;
- Compton, Alison G.;
- Thorburn, David R.;
- Christodoulou, John
Publication type:
Article
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant.
Published in:
Human Mutation, 2019, v. 40, n. 7, p. 893, doi. 10.1002/humu.23753
By:
- Lake, Nicole J.;
- Formosa, Luke E.;
- Stroud, David A.;
- Ryan, Michael T.;
- Calvo, Sarah E.;
- Mootha, Vamsi K.;
- Morar, Bharti;
- Procopis, Peter G;
- Christodoulou, John;
- Compton, Alison G.;
- Thorburn, David R.
Publication type:
Article
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Published in:
Human Mutation, 2012, v. 33, n. 2, p. 411, doi. 10.1002/humu.21654
By:
- Tucker, Elena J.;
- Mimaki, Masakazu;
- Compton, Alison G.;
- McKenzie, Matthew;
- Ryan, Michael T.;
- Thorburn, David R.
Publication type:
Article
The molecular basis of human complex I deficiency.
Published in:
IUBMB Life, 2011, v. 63, n. 9, p. 669, doi. 10.1002/iub.495
By:
- Tucker, Elena J.;
- Compton, Alison G.;
- Calvo, Sarah E.;
- Thorburn, David R.
Publication type:
Article
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Published in:
Genes, 2021, v. 12, n. 4, p. 607, doi. 10.3390/genes12040607
By:
- Rius, Rocio;
- Compton, Alison G.;
- Baker, Naomi L.;
- Welch, AnneMarie E.;
- Coman, David;
- Kava, Maina P.;
- Minoche, Andre E.;
- Cowley, Mark J.;
- Thorburn, David R.;
- Christodoulou, John
Publication type:
Article

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