부산대학교 도서관

Harkness, J Robert ; McDermott, John H ; Marsden, Shea ; Jamieson, Peter ; Metcalfe, Kay A ; Khan, Naz ; Macken, William L ; Pitceathly, Robert D S ; Record, Christopher J ; Maroofian, Reza ; Kleopa, Kleopas ; Christodoulou, Kyproula ; Sabir, Ataf ; Islam, Lily ; Santra, Saikat ; Durmusalioglu, Enise Avci ; Atik, Tahir ; Isik, Esra ; Cogulu, Ozgur ; Urquhart, Jill E ; Beaman, Glenda M ; Demain, Leigh A ; Jackson, Adam ; Blakes, Alexander J M ; Byers, Helen J ; Bennett, Hayley ; Lin, Wei-Hsiang ; Adamson, Antony ; Patel, Sanjai ; Yue, Wyatt W ; Taylor, Robert W ; Reunert, Janine ; Marquardt, Thorsten ; Buchert, Rebecca ; Haack, Tobias ; Losch, Heike ; Ryba, Lukas ; Lassuthova, Petra ; Valkovičová, Radka ; Haberlová, Jana ; Lauerová, Barbora ; Trúsiková, Eva ; Polavarapu, Kiran ; Kilicarslan, Ozge Aksel ; Lochmüller, Hanns ; Zamani, Mina ; Chamanrou, Niloofar ; Shariati, Gholamreza ; Sadeghian, Saeid ; Azizimalamiri, Reza ; Maddirevula, Sateesh ; AlMuhaizea, Muhammad ; Alkuraya, Fowzan S ; Horvath, Rita ; Gungor, Serdal ; Manzur, Adnan ; Munot, Pinki ; Matthews, Rachael ; Banka, Siddharth ; Reilly, Mary M ; Bennett, Daimark ; O’Keefe, Raymond T ; Newman, William G

In The Lancet Neurology August 2025 24(8):667-680

Blomgren LKM; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich CH-8008, Switzerland.; Guo S; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, U.K.; Froese DS; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich CH-8008, Switzerland.; McCorvie TJ; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, U.K.; Yue WW; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, U.K.

Publisher: American Chemical Society Country of Publication: United States NLM ID: 0370623 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1520-4995 (Electronic) Linking ISSN: 00062960 NLM ISO Abbreviation: Biochemistry Subsets: MEDLINE

Lai KL; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, M13 9PL, United Kingdom.; Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, M13 9PL, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, United Kingdom.; Maroofian R; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Ramadesikan S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Reynolds T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA.; Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA.; Hunter JM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University, Columbus, OH, USA.; Vidaurre J; Division of Pediatric Neurology, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University Wexner College of Medicine, Columbus, OH, USA.; Atanasova M; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7FZ, United Kingdom.; Marsden BD; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7FZ, United Kingdom.; Yue WW; Faculty of Medical Sciences, Newcastle University Biosciences Institute, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom.; Houlden H; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom.; Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, United Kingdom.; Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, M13 9PL, United Kingdom. william.newman@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, United Kingdom. william.newman@manchester.ac.uk.; O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, M13 9PL, United Kingdom. rokeefe@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, United Kingdom. rokeefe@manchester.ac.uk.

Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE; In Process

Wang X; Department of Chemistry, University of Toronto, Toronto, ON, Canada.; Sun J; Department of Chemistry, University of Toronto, Toronto, ON, Canada.; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Ahmad S; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Yang D; Department of Physical & Environmental Sciences, University of Toronto Scarborough, Toronto, ON, Canada.; Li F; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Chan UH; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada.; Zeng H; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Simoben CV; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Green SR; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Silva M; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Houliston S; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Dong A; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Bolotokova A; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Gibson E; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Kutera M; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada.; Ghiabi P; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Kondratov I; Enamine Ltd., Kyiv, Ukraine.; Enamine Germany GmbH, Industriepark Hoechst, Frankfurt am Main, Germany.; V. P. Kukhar Institute of Bioorganic Chemistry and Petrochemistry, National Academy of Sciences of Ukraine, Kyiv, Ukraine.; Matviyuk T; Enamine Ltd., Kyiv, Ukraine.; Department of Immunology and Infectious Diseases, Harvard T. H. Chan School of Public Health, Boston, MA, USA.; Chuprina A; Enamine Ltd., Kyiv, Ukraine.; Mavridi D; Institute of Pharmaceutical Chemistry, Goethe University, Frankfurt am Main, Germany.; Structural Genomics Consortium, Goethe University, Frankfurt am Main, Germany.; Lenz C; Institute of Pharmaceutical Chemistry, Goethe University, Frankfurt am Main, Germany.; Structural Genomics Consortium, Goethe University, Frankfurt am Main, Germany.; Joerger AC; Institute of Pharmaceutical Chemistry, Goethe University, Frankfurt am Main, Germany.; Structural Genomics Consortium, Goethe University, Frankfurt am Main, Germany.; Brown BD; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Heath RB; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Yue WW; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Robbie LK; Emory University School of Medicine, Atlanta, GA, USA.; Beyett TS; Emory University School of Medicine, Atlanta, GA, USA.; Müller S; Institute of Pharmaceutical Chemistry, Goethe University, Frankfurt am Main, Germany.; Structural Genomics Consortium, Goethe University, Frankfurt am Main, Germany.; Knapp S; Institute of Pharmaceutical Chemistry, Goethe University, Frankfurt am Main, Germany.; Structural Genomics Consortium, Goethe University, Frankfurt am Main, Germany.; Owen DR; Pfizer Research and Development, Cambridge, MA, USA.; Harding R; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada.; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Leslie Dan Faculty of Pharmacy, University of Toronto, Toronto, ON, Canada.; Schapira M; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada.; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Brown PJ; Structural Genomics Consortium, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Santhakumar V; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Ackloo S; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Arrowsmith CH; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada.; Edwards AM; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada.; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Peng H; Department of Chemistry, University of Toronto, Toronto, ON, Canada. hui.peng@utoronto.ca.; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada. hui.peng@utoronto.ca.; Department of Physical & Environmental Sciences, University of Toronto Scarborough, Toronto, ON, Canada. hui.peng@utoronto.ca.; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada. hui.peng@utoronto.ca.; Halabelian L; Structural Genomics Consortium, University Health Network, Toronto, ON, Canada. l.halabelian@utoronto.ca.; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada. l.halabelian@utoronto.ca.; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada. l.halabelian@utoronto.ca.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Kataura, Tetsushi; Otten, Elsje G; Rabanal‐Ruiz, Yoana; Adriaenssens, Elias; Urselli, Francesca; Scialo, Filippo; Fan, Lanyu; Smith, Graham R; Dawson, William M; Chen, Xingxiang; Yue, Wyatt W; Bronowska, Agnieszka K; Carroll, Bernadette; Martens, Sascha; Lazarou, Michael; Korolchuk, Viktor I

EMBO Journal. Mar2023, Vol. 42 Issue 5, p1-16. 16p.

Marzeda AM; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.; Schwenzer A; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.; Didov BS; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK; Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow, UK; Research into Inflammatory Arthritis Centre Versus Arthritis (RACE), University of Birmingham, University of Glasgow, University of Oxford, University of Newcastle, UK.; Woolcock K; Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow, UK; Research into Inflammatory Arthritis Centre Versus Arthritis (RACE), University of Birmingham, University of Glasgow, University of Oxford, University of Newcastle, UK.; Richard JB; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.; Jennings LK; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.; Julé AM; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.; Yang N; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.; Davidson S; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.; Sansom S; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.; Cribbs AP; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Botnar Research Centre, University of Oxford, Oxford, UK.; Dendrou CA; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.; Yue WW; Centre for Medicines Discovery, University of Oxford, Oxford, UK.; Goodyear CS; Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow, UK; Research into Inflammatory Arthritis Centre Versus Arthritis (RACE), University of Birmingham, University of Glasgow, University of Oxford, University of Newcastle, UK.; Raza K; Research into Inflammatory Arthritis Centre Versus Arthritis (RACE), University of Birmingham, University of Glasgow, University of Oxford, University of Newcastle, UK; National Institute for Health and Care Research Birmingham Biomedical Research Centre and Clinical Research Facility, Institute of Inflammation and Ageing, University of Birmingham, Queen Elizabeth Hospital, Birmingham, UK; Department of Rheumatology, Sandwell and West Birmingham NHS Trust, Birmingham, UK.; Midwood KS; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Science, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK; Research into Inflammatory Arthritis Centre Versus Arthritis (RACE), University of Birmingham, University of Glasgow, University of Oxford, University of Newcastle, UK. Electronic address: kim.midwood@kennedy.ox.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 0372355 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2060 (Electronic) Linking ISSN: 00034967 NLM ISO Abbreviation: Ann Rheum Dis Subsets: MEDLINE

Wettstein, Sarah; Underhaug, Jarl; Perez, Belen; Marsden, Brian D; Yue, Wyatt W; Martinez, Aurora; Blau, Nenad

European Journal of Human Genetics. Mar2015, Vol. 23 Issue 3, p302-309. 8p.

Meynier V; Expression Génétique Microbienne, Université Paris Cité, CNRS, Institut de Biologie Physico-Chimique (IBPC), 75005, Paris, France.; Hardwick SW; Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1GA, UK.; Catala M; Expression Génétique Microbienne, Université Paris Cité, CNRS, Institut de Biologie Physico-Chimique (IBPC), 75005, Paris, France.; Roske JJ; Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1GA, UK.; Oerum S; Expression Génétique Microbienne, Université Paris Cité, CNRS, Institut de Biologie Physico-Chimique (IBPC), 75005, Paris, France.; Chirgadze DY; Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1GA, UK.; Barraud P; Expression Génétique Microbienne, Université Paris Cité, CNRS, Institut de Biologie Physico-Chimique (IBPC), 75005, Paris, France.; Yue WW; Centre for Medicines Discovery, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, OX3 7DQ, UK.; Biosciences Institute, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Luisi BF; Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1GA, UK.; Tisné C; Expression Génétique Microbienne, Université Paris Cité, CNRS, Institut de Biologie Physico-Chimique (IBPC), 75005, Paris, France. carine.tisne@cnrs.fr.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Blomgren LKM; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich, CH-8032, Switzerland.; Huber M; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich, CH-8032, Switzerland.; Mackinnon SR; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Bürer C; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich, CH-8032, Switzerland.; Baslé A; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Yue WW; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Wyatt.Yue@newcastle.ac.uk.; Centre for Medicines Discovery, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, OX3 7DQ, UK. Wyatt.Yue@newcastle.ac.uk.; Froese DS; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich, CH-8032, Switzerland. Sean.Froese@kispi.uzh.ch.; McCorvie TJ; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Thomas.McCorvie@newcastle.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

McCorvie TJ; Nuffield Department of Clinical Medicine, Centre for Medicines Discovery, University of Oxford, Oxford, OX3 7DQ, UK. thomas.mccorvie@newcastle.ac.uk.; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. thomas.mccorvie@newcastle.ac.uk.; Adamoski D; Brazilian Biosciences National Laboratory, Brazilian Center for Research in Energy and Materials, 13083-970, Campinas, Brazil.; Machado RAC; Brazilian Biosciences National Laboratory, Brazilian Center for Research in Energy and Materials, 13083-970, Campinas, Brazil.; Tang J; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Bailey HJ; Nuffield Department of Clinical Medicine, Centre for Medicines Discovery, University of Oxford, Oxford, OX3 7DQ, UK.; Faculty of Medicine, Institute of Biochemistry II, Goethe University Frankfurt, Frankfurt, Germany.; Ferreira DSM; Nuffield Department of Clinical Medicine, Centre for Medicines Discovery, University of Oxford, Oxford, OX3 7DQ, UK.; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Strain-Damerell C; Nuffield Department of Clinical Medicine, Centre for Medicines Discovery, University of Oxford, Oxford, OX3 7DQ, UK.; Research Complex at Harwell, Harwell Science and Innovation Campus, Didcot, OX11 0FA, UK.; Baslé A; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Ambrosio ALB; Sao Carlos Institute of Physics, University of Sao Paulo, Sao Carlos, SP, Brazil.; Dias SMG; Brazilian Biosciences National Laboratory, Brazilian Center for Research in Energy and Materials, 13083-970, Campinas, Brazil.; Yue WW; Nuffield Department of Clinical Medicine, Centre for Medicines Discovery, University of Oxford, Oxford, OX3 7DQ, UK. wyatt.yue@newcastle.ac.uk.; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. wyatt.yue@newcastle.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Grünert, Sarah C; Stucki, Martin; Morscher, Raphael J; Suormala, Terttu; Bürer, Celine; Burda, Patricie; Christensen, Ernst; Ficicioglu, Can; Herwig, Jürgen; Kölker, Stefan; Möslinger, Dorothea; Pasquini, Elisabetta; Santer, René; Schwab, K Otfried; Wilcken, Bridget; Fowler, Brian; Yue, Wyatt W; Baumgartner, Matthias R

Orphanet Journal of Rare Diseases. 2012, Vol. 7 Issue 1, p31-54. 24p. 3 Diagrams, 6 Charts.

Mackinnon SR; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.; Chatzigiannis CM; Section of Organic Chemistry and Biochemistry, Department of Chemistry, University of Ioannina, Ioannina, 45110, Greece.; Kyrkou SG; Section of Organic Chemistry and Biochemistry, Department of Chemistry, University of Ioannina, Ioannina, 45110, Greece.; Chinnarasu M; Section of Organic Chemistry and Biochemistry, Department of Chemistry, University of Ioannina, Ioannina, 45110, Greece.; Diamantis DA; Section of Organic Chemistry and Biochemistry, Department of Chemistry, University of Ioannina, Ioannina, 45110, Greece.; Tzakos EP; Department of Biology, National and Kapodistrian University of Athens, Greece.; Tsiailanis AD; Section of Organic Chemistry and Biochemistry, Department of Chemistry, University of Ioannina, Ioannina, 45110, Greece.; Gkalpinos VK; Section of Organic Chemistry and Biochemistry, Department of Chemistry, University of Ioannina, Ioannina, 45110, Greece.; Yue WW; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK. Electronic address: Wyatt.Yue@newcastle.ac.uk.; Tzakos AG; Section of Organic Chemistry and Biochemistry, Department of Chemistry, University of Ioannina, Ioannina, 45110, Greece. Electronic address: atzakos@uoi.gr.

Publisher: Editions Scientifiques Elsevier Country of Publication: France NLM ID: 0420510 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1768-3254 (Electronic) Linking ISSN: 02235234 NLM ISO Abbreviation: Eur J Med Chem Subsets: MEDLINE

Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Cabrera-Orefice A; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany; Institute of Biochemistry, Medical Faculty, Justus-Liebig-University, 35392 Giessen, Germany.; Schrauwen I; Department of Translational Neurosciences, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA.; Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Bharadwaj T; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA.; Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Oláhová M; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Kaur N; Department of Medical Genetics, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Shukla A; Department of Medical Genetics, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Abukhalid M; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad 45320, Pakistan.; Rehman S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Riazuddin S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Smith JM; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia; Western Sydney Genetics Program, Department of Clinical Genetics, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia.; Mancilar H; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Tumer S; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Esen FN; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Uctepe E; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Topcu V; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Yesilyurt A; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Afzal E; Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan.; Salari M; Department of Neurology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Carroll C; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Kor D; Cukurova University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Adana, Turkey.; Bulut FD; Cukurova University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Adana, Turkey.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Carrera S; Genome Editing Unit Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.; Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, University of Manchester, Manchester, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Jamieson P; Department of Radiology, Manchester University Hospital NHS Foundation Trust, Manchester M13 9PW, UK.; Ahmed ZM; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Leal SM; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA; Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.; Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Wittig I; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Rhein Main, 60596 Frankfurt am Main, Germany.; O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: rokeefe@manchester.ac.uk.; Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: william.newman@manchester.ac.uk.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Hochberg, Irit; Demain, Leigh A M; Richer, Julie; Thompson, Kyle; Urquhart, Jill E; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez-Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A; McMillan, Hugh J; Barzik, Melanie; Beaman, Glenda M; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G; Bhaskar, Sanjeev S; Lawrence, Isabella R; Jenkinson, Emma M; Zambonin, Jessica L; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Genomics England Research Consortium; Yue, Wyatt W; Zschocke, Johannes; Munro, Kevin J; Battersby, Brendan J; Friedman, Thomas B; Taylor, Robert W; O'Keefe, Raymond T; Newman, William G

Am J Hum Genet
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Institut de Recerca Germans Trias i Pujol (IGTP)
Hochberg, I, Demain, L, Richer, J, Thompson, K, Urquhart, J, Rea, A, Pagarkar, W, Rodriguez-Palmero, A, Beaman, G, O'Sullivan, J, Williams, S, Bhaskar, S, O'Keefe, R, Newman, W & Munro, K 2021, 'Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations', American Journal of Human Genetics, vol. 108, no. 11, pp. 2195-2204. https://doi.org/10.1016/j.ajhg.2021.10.002

Bezerra, Gustavo A; Holenstein, Alexander; Foster, William R; Xie, Bing; Hicks, Kevin G; Bürer, Céline; Lutz, Seraina; Mukherjee, Ayan; Sarkar, Dipika; Bhattacharya, Debomita; Rutter, Jared; Talukdar, Arindam; Brown, Peter J; Luo, Minkui; Shi, Lei; Froese, D Sean; Yue, Wyatt W

Biochimie

Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Kopajtich R; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Schiff M; Université Paris Cité, Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Filière G2M, Paris, France; INSERM UMR_S1163, Institut Imagine, Université Paris Cité, Paris, France.; Beetz C; Centogene GmbH, Rostock, Germany.; Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.; Conway GS; Institute for Women's Health, University College London, London, UK.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Azzouz H; Service de Pédiatrie et des Maladies Métaboliques Héréditaires, Centre Hospitalier Universitaire la Rabta, Jabberi 1007, Tunis, Tunisia.; Ben Chehida A; Laboratoire de Recherche LR12SP02, Maladies Métaboliques Héréditaires Investigations et Prise en Charge, Service de Pédiatrie et des Maladies Métaboliques Héréditaires, Centre Hospitalier Universitaire la Rabta, Jabberi 1007, Tunis, Tunisia.; Elmaleh-Bergès M; Service de Radiologie Pédiatrique, Hôpital Robert-Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.; Glasgow RIC; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65 Stockholm, Sweden.; Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Oláhová M; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; Department of Applied Sciences, Faculty of Health and Life Sciences, Northumbria University, Newcastle upon Tyne, UK.; He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Jenkinson EM; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Jahic A; Institute of Diagnostic Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA.; Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA.; Urquhart JE; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; O'Sullivan J; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Williams SG; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Bhaskar SS; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Carrera S; Genome Editing Unit, University of Manchester, Manchester M13 9PT, UK.; Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK.; Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.; Ellingford JM; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK; Genomics England, London, UK.; Houlden H; Department of Molecular Neuroscience, University College London Queen Square Institute of Neurology, London, UK.; Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, University of Manchester, Manchester, UK.; Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA.; Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Prokisch H; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: rokeefe@manchester.ac.uk.; Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: william.newman@manchester.ac.uk.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Mackinnon SR; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Zarganes-Tzitzikas T; Alzheimer's Research UK Oxford Drug Discovery Institute, Centre for Medicines Discovery, Nuffield Department of Medicine, Oxford, UK.; Adams CJ; Centre for Medicines Discovery, Nuffield Department of Medicine Research Building (NDMRB), University of Oxford, Oxford, UK.; Brennan PE; Centre for Medicines Discovery, Nuffield Department of Medicine Research Building (NDMRB), University of Oxford, Oxford, UK. Electronic address: paul.brennan@cmd.ox.ac.uk.; Yue WW; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. Electronic address: wyatt.yue@newcastle.ac.uk.

Publisher: Editions Scientifiques Elsevier Country of Publication: France NLM ID: 1264604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1638-6183 (Electronic) Linking ISSN: 03009084 NLM ISO Abbreviation: Biochimie Subsets: MEDLINE

Heuberger, Kathrin; Bailey, Henry J; Burda, Patricie; Chaikuad, Apirat; Krysztofinska, Ewelina; Suormala, Terttu; Bürer, Céline; Lutz, Seraina; Fowler, Brian; Froese, D Sean; Yue, Wyatt W; Baumgartner, Matthias R

Biochim Biophys Acta Mol Basis Dis

McCorvie TJ; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK.; Ferreira D; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Yue WW; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK.; Froese DS; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Cabrera-Orefice A; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany.; Institute of Biochemistry, Medical Faculty, Justus-Liebig-University, 35392 Giessen, Germany.; Schrauwen I; Department of Translational Neurosciences, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA.; Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Bharadwaj T; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA.; Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Oláhová M; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK.; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Abukhalid M; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, 45320, Pakistan.; Rehman S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, United States.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Riazuddin S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, United States.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Smith JM; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Western Sydney Genetics Program, Department of Clinical Genetics, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Carrera S; Genome Editing Unit Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, UK.; Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, University of Manchester, Manchester, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Jamieson P; Department of Radiology, Manchester University Hospital NHS Foundation Trust, Manchester, M13 9PW, UK.; Ahmed ZM; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, United States.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Leal SM; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA.; Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, NY.; Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Wittig I; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Rhein Main, 60596 Frankfurt am Main, Germany.; O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE