Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mohan Mohapatra, T"'
Autor:
Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohan Mohapatra, T, Eslahi, A, Ashrafzadeh, F, Rawlins, LE, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Kumar Rai, S, Monti, M, Harlalka, GV, Simpson, MA, Rich, P, Al-Salmi, F, Patton, MA, Chioza, BA, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, MG, Pucci, P, Houlden, H, Lupski, JR, Crosby, AH, Baple, EL
Publikováno v:
Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohapatra, T M, Eslahi, A, Ashrafzadeh, F, Rawlins, L E, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Rai, S K, Monti, M, Harlalka, G V, Simpson, M A, Rich, P, Al-Salmi, F, Patton, M A, Chioza, B A, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, M G, Pucci, P, Houlden, H, Lupski, J R, Crosby, A H & Baple, E L 2017, ' PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment ', Brain, vol. 140, no. 4, pp. 940-952 . https://doi.org/10.1093/brain/awx014
Brain
Brain
Zollo et al. report that mutations in PRUNE1, a phosphoesterase superfamily molecule, underlie primary microcephaly and profound global developmental delay in four unrelated families from Oman, India, Iran and Italy. The study highlights a potential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e2db02146623e2293cb66ae2ab226462
https://kclpure.kcl.ac.uk/en/publications/d23a6486-88f7-43d9-b2d1-97053dd5be1a
https://kclpure.kcl.ac.uk/en/publications/d23a6486-88f7-43d9-b2d1-97053dd5be1a
Autor:
Zollo M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.; European School of Molecular Medicine, SEMM, University of Milan, Italy., Ahmed M; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Ferrucci V; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.; European School of Molecular Medicine, SEMM, University of Milan, Italy., Salpietro V; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Asadzadeh F; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy., Carotenuto M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy., Maroofian R; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Al-Amri A; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK.; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman., Singh R; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India., Scognamiglio I; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy., Mojarrad M; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Musella L; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy., Duilio A; Dipartimento di Scienze Chimiche, Università Federico II, Naples, Italy., Di Somma A; Dipartimento di Scienze Chimiche, Università Federico II, Naples, Italy., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rajab A; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman., Al-Khayat A; Department of Biology, Sultan Qaboos University, PO Box 36, Post code 123, Sultanate of Oman., Mohan Mohapatra T; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India., Eslahi A; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Department of Pediatric Neurology, Ghaem Medical Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Zip Code- 9919991766, Iran., Rawlins LE; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Prasad R; Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India., Gupta R; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India., Kumari P; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India., Srivastava M; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.; Department of Psychiatry, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India., Cozzolino F; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy., Kumar Rai S; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India., Monti M; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.; Dipartimento di Scienze Chimiche, Università Federico II, Naples, Italy., Harlalka GV; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Simpson MA; Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, London, UK., Rich P; Department of Neuroradiology, St. George's Hospital, London, UK., Al-Salmi F; Department of Biology, Sultan Qaboos University, PO Box 36, Post code 123, Sultanate of Oman., Patton MA; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.; Department of Biology, Sultan Qaboos University, PO Box 36, Post code 123, Sultanate of Oman.; Genetics Research Centre, St. George's, University of London, London, SW17 0RE, UK., Chioza BA; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Efthymiou S; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Granata F; Unit of Neuroradiology, Department of Biomedical Science and Morphological and Functional Images, University of Messina, Messina, Italy., Di Rosa G; Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age, University of Messina, Messina, Italy., Wiethoff S; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Borgione E; Unit of Neuromuscular disorders, IRCCS Oasi Maria SS Troina, Enna, Italy., Scuderi C; Unit of Neuromuscular disorders, IRCCS Oasi Maria SS Troina, Enna, Italy., Mankad K; Department of Neuroradiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Hanna MG; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Pucci P; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.; Dipartimento di Scienze Chimiche, Università Federico II, Naples, Italy., Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Crosby AH; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Baple EL; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2017 Apr 01; Vol. 140 (4), pp. 940-952.