The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial disease.

Ng, Yi Shiau; Alston, Charlotte L; Diodato, Daria; Morris, Andrew A; Ulrick, Nicole; Kmoch, Stanislav; Houstek, Josef; Martinelli, Diego; Haghighi, Alireza; Atiq, Mehnaz; Gamero, Montserrat Anton; Garcia-Martinez, Elena; Kratochvílová, Hana; Santra, Saikat; Brown, Ruth M; Brown, Garry K; Ragge, Nicola; Monavari, Ahmad; Pysden, Karen; Ravn, Kirstine; Casey, Jillian P; Khan, Arif; Chakrapani, Anupam; Vassallo, Grace; Simons, Cas; McKeever, Karl; O'Sullivan, Siobhan; Childs, Anne-Marie; Østergaard, Elsebet; Vanderver, Adeline; Goldstein, Amy; Vogt, Julie; Taylor, Robert W; McFarland, Robert

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

Ng, Yi Shiau; Alston, Charlotte L; Diodato, Daria; Morris, Andrew A; Ulrick, Nicole; Kmoch, Stanislav; Houstek, Josef; Martinelli, Diego; Haghighi, Alireza; Atiq, Mehnaz; Gamero, Montserrat Anton; Garcia-Martinez, Elena; Kratochvílová, Hana; Santra, Saikat; Brown, Ruth M; Brown, Garry K; Ragge, Nicola; Monavari, Ahmad; Pysden, Karen; Ravn, Kirstine; Casey, Jillian P; Khan, Arif; Chakrapani, Anupam; Vassallo, Grace; Simons, Cas; McKeever, Karl; O'Sullivan, Siobhan; Childs, Anne-Marie; Østergaard, Elsebet; Vanderver, Adeline; Goldstein, Amy; Vogt, Julie; Taylor, Robert W; McFarland, Robert.

Afiliação

Ng YS; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Alston CL; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Diodato D; Neuromuscular and Neurodegenerative Disease Unit, Children Research Hospital Bambino Gesù, Rome, Italy.
Morris AA; Department of Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
Ulrick N; Department of Neurology, George Washington University Medical School, Children's National Health System, Washington, DC, USA.
Kmoch S; First Faculty of Medicine, Institute for Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic.
Houstek J; Institute of Physiology, Academy of Sciences of the Czech Republic, Prague, Czech Republic.
Martinelli D; Division of Metabolism, Children Research Hospital Bambino Gesù, Rome, Italy.
Haghighi A; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Atiq M; Department of Medicine and the Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Gamero MA; Department of Pediatrics, Aga Khan University, Karachi, Pakistan.
Garcia-Martinez E; Pediatric Nephrology Unit, Hospital Universitario Reina Sofia, Cordoba, Spain.
Kratochvílová H; Pediatric Nephrology Unit, Hospital Universitario Reina Sofia, Cordoba, Spain.
Santra S; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
Brown RM; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
Brown GK; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
Ragge N; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
Monavari A; Clinical Genetics Unit, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Pysden K; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
Ravn K; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
Casey JP; Department of Paediatric Medicine, Leeds General Infirmary, Leeds, UK.
Khan A; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Chakrapani A; Department of Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.
Vassallo G; Leicester Children's Hospital, Leicester Royal Infirmary, Leicester, UK.
Simons C; Department of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
McKeever K; Department of Paediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
O'Sullivan S; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
Childs AM; Department of Paediatric Medicine, The Royal Belfast Hospital for Sick Children, Belfast, UK.
Østergaard E; Department of Paediatric Medicine, The Royal Belfast Hospital for Sick Children, Belfast, UK.
Vanderver A; Department of Paediatric Medicine, Leeds General Infirmary, Leeds, UK.
Goldstein A; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Vogt J; Department of Neurology, George Washington University Medical School, Children's National Health System, Washington, DC, USA.
Taylor RW; Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
McFarland R; Department of Medical and Molecular Genetics, Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.