전남대학교 중앙도서관

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

보고서

issue: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar 04, pp. e63579. Date of Electronic Publication: 2024 Mar 04.
Author: Khalaf-Nazzal R; Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine.
Dweikat I; Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine.
Ubeyratna N; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Fasham J; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Alawneh M; Department of Medicine, College of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine.
Leslie J; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Maree M; Department of Medicine, College of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.
Gunning A; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Zayed DZ; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine.
Voutsina N; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK.; University of Plymouth, Plymouth, UK.
Sawafta R; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine.
Owens M; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Baker W; Paediatric Department, Dr. Khalil Suleiman Government Hospital, Jenin, Palestine.
Turnpenny P; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Al-Hijawi F; Paediatric Community Outpatient Clinics, Palestinian Ministry of Health, Jenin, Palestine.
Baple EL; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Crosby AH; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
DB Label: Database : MEDLINE

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

학술저널

issue: Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 3095-3107.
Author: Tábara LC; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.
Al-Salmi F; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.
Maroofian R; UCL Queen Square Institute of Neurology, University College London, London WC1E 6BT, UK.
Al-Futaisi AM; Genetic and Developmental Medicine Clinic, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat 123, Oman.
Al-Murshedi F; Genetic and Developmental Medicine Clinic, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat 123, Oman.
Kennedy J; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.; Clinical Genetics, University Hospitals Bristol, Bristol BS2 8EG, UK.
Day JO; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.; Faculty of Health, University of Plymouth, Plymouth PL4 8AA, UK.
Courtin T; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75019 Paris, Sorbonne Université, France.
Al-Khayat A; Department of Biology, College of Science, Sultan Qaboos University, Muscat, Oman.
Galedari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Protasoni M; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.
Johnson M; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.
Leslie JS; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.
Salter CG; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.
Rawlins LE; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK.
Fasham J; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK.
Al-Maawali A; Genetic and Developmental Medicine Clinic, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat 123, Oman.
Voutsina N; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.
Charles P; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75019 Paris, Sorbonne Université, France.
Harrold L; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.
Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75019 Paris, Sorbonne Université, France.
Kunji ERS; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.
Vona B; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen, Germany.
Jelodar G; Pediatric Neurology, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Sedaghat A; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Shariati G; Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz, Iran.
Houlden H; UCL Queen Square Institute of Neurology, University College London, London WC1E 6BT, UK.
Crosby AH; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.
Prudent J; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.
Baple EL; Level 4, RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK.
DB Label: Database : MEDLINE

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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.

보고서

issue: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2021 Jan; Vol. 82, pp. 84-86. Date of Electronic Publication: 2020 Nov 11.
Author: Rickman OJ; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK.
Salter CG; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, UK.
Gunning AC; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK.
Fasham J; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, UK.
Voutsina N; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK.
Leslie JS; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK.
McGavin L; Department of Radiology, Derriford Hospital, Plymouth, UK.
Cross HE; University of Arizona College of Medicine, Tucson, AZ, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 77030.
Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 77030.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA, 77030.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 77030; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA, 77030; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA, 77030; Texas Children's Hospital, Houston, TX, USA, 77030.
Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, UK. Electronic address: E.Baple@exeter.ac.uk.
Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK. Electronic address: a.h.crosby@exeter.ac.uk.
DB Label: Database : MEDLINE

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Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics.

학술저널

issue: Data in brief [Data Brief] 2020 Oct 16; Vol. 33, pp. 106382. Date of Electronic Publication: 2020 Oct 16 (Print Publication: 2020).
Author: Borah K; Department of Nutrition, Faculty of Health and Medical Sciences, University of Surrey, Guildford GU2 7XH, United Kingdom.
Rickman OJ; RD&E Hospital Wonford, University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, United Kingdom.
Voutsina N; RD&E Hospital Wonford, University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, United Kingdom.
Baple EL; RD&E Hospital Wonford, University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, United Kingdom.
Dias IH; Aston Medical School, Aston University, Birmingham B4 7ET, United Kingdom.
Crosby AH; RD&E Hospital Wonford, University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, United Kingdom.
Griffiths HR; Department of Nutrition, Faculty of Health and Medical Sciences, University of Surrey, Guildford GU2 7XH, United Kingdom.
DB Label: Database : MEDLINE

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A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism.

학술저널

issue: Redox biology [Redox Biol] 2020 Sep; Vol. 36, pp. 101595. Date of Electronic Publication: 2020 Jun 01.
Author: Borah K; Department of Nutrition, Faculty of Health and Medical Sciences, University of Surrey, Guildford, GU2 7XH, UK.
Rickman OJ; University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK.
Voutsina N; University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK.
Ampong I; Department of Nutrition, Faculty of Health and Medical Sciences, University of Surrey, Guildford, GU2 7XH, UK.
Gao D; Department of Human Anatomy,Histology and Embryology, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, 710061, China.
Baple EL; University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK.
Dias IH; Aston Medical School, Aston University, Birmingham, B4 7ET, UK.
Crosby AH; University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK.
Griffiths HR; Department of Nutrition, Faculty of Health and Medical Sciences, University of Surrey, Guildford, GU2 7XH, UK. Electronic address: h.r.griffiths@surrey.ac.uk.
DB Label: Database : MEDLINE

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Characterization of the watercress (Nasturtium officinale R. Br.; Brassicaceae) transcriptome using RNASeq and identification of candidate genes for important phytonutrient traits linked to human health.

학술저널

issue: BMC genomics [BMC Genomics] 2016 May 20; Vol. 17, pp. 378. Date of Electronic Publication: 2016 May 20.
Author: Voutsina N; Centre for Biological Sciences, University of Southampton, Southampton, SO17 1BJ, UK.
Payne AC; Centre for Biological Sciences, University of Southampton, Southampton, SO17 1BJ, UK.
Hancock RD; Cell and Molecular Sciences, The James Hutton Institute, Dundee, DD2 5DA, UK.
Clarkson GJ; Vitacress Salads Ltd, Lower Link Farm, St Mary Bourne, Andover, SP11 6DB, UK.
Rothwell SD; Vitacress Salads Ltd, Lower Link Farm, St Mary Bourne, Andover, SP11 6DB, UK.
Chapman MA; Centre for Biological Sciences, University of Southampton, Southampton, SO17 1BJ, UK.
Taylor G; Centre for Biological Sciences, University of Southampton, Southampton, SO17 1BJ, UK. G.Taylor@soton.ac.uk.
DB Label: Database : MEDLINE

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