Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
Get full text
Journal Article
Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency
Morris, Andrew A.M., Cuenoud, Bernard, Delerive, Philippe, Mundy, Helen, Schwahn, Bernd C.
Published in Molecular genetics and metabolism reports (01.09.2024)
Published in Molecular genetics and metabolism reports (01.09.2024)
Get full text
Journal Article
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations
Banka, Siddharth, de Goede, Christian, Yue, Wyatt W., Morris, Andrew A.M., von Bremen, Beate, Chandler, Kate E., Feichtinger, René G., Hart, Claire, Khan, Nasaim, Lunzer, Verena, Mataković, Lavinija, Marquardt, Thorsten, Makowski, Christine, Prokisch, Holger, Debus, Otfried, Nosaka, Kazuto, Sonwalkar, Hemant, Zimmermann, Franz A., Sperl, Wolfgang, Mayr, Johannes A.
Published in Molecular genetics and metabolism (01.12.2014)
Published in Molecular genetics and metabolism (01.12.2014)
Get full text
Journal Article
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
Get full text
Journal Article
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, Gissen, Paul
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
Get full text
Journal Article
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations
Puente-Ruiz, Nuria, Ellis, Ian, Bregu, Marsel, Chen, Cliff, Church, Heather J., Tylee, Karen L., Gladston, Shalini, Hackett, Richard, Oldham, Andrew, Virk, Surinder, Hendriksz, Christian, Morris, Andrew A.M., Jones, Simon A., Stepien, Karolina M.
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
Get full text
Journal Article
Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion
Taanman, Jan-Willem, Rahman, Shamima, Pagnamenta, Alistair T, Morris, Andrew A.M, Bitner-Glindzicz, Maria, Wolf, Nicole I, Leonard, James V, Clayton, Peter T, Schapira, Anthony H.V
Published in Human mutation (01.02.2009)
Published in Human mutation (01.02.2009)
Get full text
Journal Article
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Taylor, Robert W, Pyle, Angela, Griffin, Helen, Blakely, Emma L, Duff, Jennifer, He, Langping, 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, Morris, Andrew A. M, Vassallo, Grace, Gorman, Grainne S, Ramesh, Venkateswaran, Turnbull, Douglass M, Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F
Published in JAMA : the journal of the American Medical Association (02.07.2014)
Published in JAMA : the journal of the American Medical Association (02.07.2014)
Get full text
Journal Article
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
Elkhateeb, Nour, Olivieri, Giorgia, Siri, Barbara, Boyd, Stewart, Stepien, Karolina M., Sharma, Reena, Morris, Andrew A. M., Hartley, Thomas, Crowther, Laura, Grunewald, Stephanie, Cleary, Maureen, Mundy, Helen, Chakrapani, Anupam, Lachmann, Robin, Murphy, Elaine, Santra, Saikat, Uudelepp, Mari‐Liis, Yeo, Mildrid, Bernhardt, Isaac, Sudakhar, Sniya, Chan, Alicia, Mills, Philippa, Ridout, Debora, Gissen, Paul, Dionisi‐Vici, Carlo, Baruteau, Julien
Published in Epilepsia (Copenhagen) (01.06.2023)
Published in Epilepsia (Copenhagen) (01.06.2023)
Get full text
Journal Article
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
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., Bonnen, Penelope E., Prokisch, Holger, Lightowlers, Robert N., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Taylor, Robert W.
Published in Brain (London, England : 1878) (01.12.2015)
Published in Brain (London, England : 1878) (01.12.2015)
Get full text
Journal Article
SURF1 deficiency: a multi-centre natural history study
Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima
Published in Orphanet journal of rare diseases (05.07.2013)
Published in Orphanet journal of rare diseases (05.07.2013)
Get full text
Journal Article
Cystathionine β‐Synthase Deficiency in the E‐HOD Registry—Part II: Dietary and Pharmacological Treatment
Morris, Andrew A. M., Sokolová, Jitka, Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Hannibal, Luciana, Blom, Henk J., Huemer, Martina, Kožich, Viktor, Arantes, Rodrigo R., Blanco, Francisco Arrieta, Baghdasaryan, Anna, Ballhausen, Diana, Blasco‐Alonso, Javier, Brouwers, Martijn, Bueno, María, Burgos, Rosa, Villarroya, Elvira Cañedo, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Heras, Javier De Las, Ficicioglu, Can, Jiménez, María Concepción García, Gaspar, Ana, Leguina, Domingo González‐Lamuño, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C. H., Ješina, Pavel, Kaufman, Christina, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Miñana, Isidro Vitoria, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Peña‐Quintana, Luís, Ramadža, Danijela Petković, Porras‐Hurtado, Gloria Liliana, Quijada‐Fraile, Pilar, Redonnet‐Vernhet, Isabelle, Rennings, Alexander, Pons, Mònica Ruiz, Santra, Saikat, Servais, Aude, Schiaffino, Maria Cristina, Schiff, Manuel, Schwahn, Bernd C., Schwartz, Ida V. D., Sremba, Leighann J., Stainforth, Collette, Stepien, Karolina Maria, Sykut‐Cegielska, Jolanta, Terry, Allyson, Piñera, Inmaculada Vives, Williams, Monique, Zeman, Jiří, Zielonka, Matthias
Published in Journal of inherited metabolic disease (01.01.2025)
Published in Journal of inherited metabolic disease (01.01.2025)
Get full text
Journal Article
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy
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
Published in Human molecular genetics (15.01.2019)
Published in Human molecular genetics (15.01.2019)
Get full text
Journal Article
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
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, Peter E, McFarland, Robert, Hughes, Joanne, Crushell, Ellen, Taylor, Robert W
Published in Journal of medical genetics (01.09.2016)
Published in Journal of medical genetics (01.09.2016)
Get full text
Journal Article