Autor: "Hopton S" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.
Autorzy:: Zierz CM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. .
Baty K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. .; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. .
Blakely EL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. .; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. .
Hopton S; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. sila.hopton@ncl.ac.uk.; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. sila.hopton@ncl.ac.uk.
Falkous G; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. .; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. .
Schaefer AM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. .; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK. .
Hadjivassiliou M; Academic Directorate of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Sheffield S10 2JF, UK. .
Sarrigiannis PG; Academic Directorate of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Sheffield S10 2JF, UK. .; Department of Clinical Neurophysiology, Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Sheffield S10 2JF, UK. .
Ng YS; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. .; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK. .
Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. .; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. .; Pokaż więcej
Źródło:: Journal of clinical medicine [J Clin Med] 2019 Jun 04; Vol. 8 (6). Date of Electronic Publication: 2019 Jun 04.
Typ publikacji:: Journal Article

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Skocz do pozycji: 2.

Tytuł:: Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Autorzy:: Hayhurst H; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
de Coo IFM; Department of Neurology Erasmus Medical Centre Rotterdam Netherlands.; Department of Paediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.
Piekutowska-Abramczuk D; Department of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.
Alston CL; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Sharma S; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Thompson K; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Rius R; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
He L; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Hopton S; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Ploski R; Department of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.
Ciara E; Department of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.
Lake NJ; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
Compton AG; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
Delatycki MB; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
Verrips A; Department of Neurology Canisius Wilhelmina Hospital Nijmegen The Netherlands.
Bonnen PE; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
Jones SA; Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust Manchester Academic Health Sciences Centre Manchester UK.
Morris AA; Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust Manchester Academic Health Sciences Centre Manchester UK.
Shakespeare D; Neuro-Rehabilitation Unit Royal Preston Hospital Preston United Kingdom.
Christodoulou J; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
Wesol-Kucharska D; Department of Clinical Genomics Research Schools GROW and MHeNS Maastricht University Maastricht The Netherlands.
Rokicki D; Department of Clinical Genomics Research Schools GROW and MHeNS Maastricht University Maastricht The Netherlands.
Smeets HJM; Department of Paediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.
Pronicka E; Department of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.; Neuro-Rehabilitation Unit Royal Preston Hospital Preston United Kingdom.
Thorburn DR; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
Gorman GS; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
McFarland R; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Taylor RW; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Ng YS; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.; Pokaż więcej
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Feb 17; Vol. 6 (3), pp. 515-524. Date of Electronic Publication: 2019 Feb 17 (Print Publication: 2019).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genomic Structural Variation/*genetics
Hydroxymethyl and Formyl Transferases/*genetics
Leigh Disease/*genetics
Leigh Disease/*pathology
Adolescent ; Biopsy ; Child ; Child, Preschool ; Cohort Studies ; Female ; Fibroblasts/metabolism ; Humans ; Infant ; Infant, Newborn ; Male ; Mitochondria/genetics ; Mitochondrial Diseases/genetics ; Mitochondrial Proteins ; Mutation ; Prognosis ; Retrospective Studies

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