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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo, Massimo; Ahmed, Mustafa; Ferrucci, Veronica; Salpietro, Vincenzo; Asadzadeh, Fatemeh; Carotenuto, Marianeve; Maroofian, Reza; Al-Amri, Ahmed; Singh, Royana; Scognamiglio, Iolanda; Mojarrad, Majid; Musella, Luca; Duilio, Angela; Di Somma, Angela; Karaca, Ender; Rajab, Anna; Al-Khayat, Aisha; Mohan Mohapatra, Tribhuvan; Eslahi, Atieh; Ashrafzadeh, Farah; Rawlins, Lettie E; Prasad, Rajniti; Gupta, Rashmi; Kumari, Preeti; Srivastava, Mona; Cozzolino, Flora; Kumar Rai, Sunil; Monti, Maria; Harlalka, Gaurav V; Simpson, Michael A; Rich, Philip; Al-Salmi, Fatema; Patton, Michael A; Chioza, Barry A; Efthymiou, Stephanie; Granata, Francesca; Di Rosa, Gabriella; Wiethoff, Sarah; Borgione, Eugenia; Scuderi, Carmela; Mankad, Kshitij; Hanna, Michael G; Pucci, Piero; Houlden, Henry; Lupski, James R; Crosby, Andrew H; Baple, Emma L.
  • Zollo M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
  • Ahmed M; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
  • Ferrucci V; European School of Molecular Medicine, SEMM, University of Milan, Italy.
  • Salpietro V; 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.
  • Asadzadeh F; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
  • Carotenuto M; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
  • Maroofian R; European School of Molecular Medicine, SEMM, University of Milan, Italy.
  • Al-Amri A; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Singh R; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
  • Scognamiglio I; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
  • Mojarrad M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
  • Musella L; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
  • Duilio A; 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.
  • Di Somma A; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK.
  • Karaca E; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
  • Rajab A; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
  • Al-Khayat A; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
  • Mohan Mohapatra T; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
  • Eslahi A; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Ashrafzadeh F; Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Rawlins LE; Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
  • Prasad R; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
  • Gupta R; Dipartimento di Scienze Chimiche, Università Federico II, Naples, Italy.
  • Kumari P; Dipartimento di Scienze Chimiche, Università Federico II, Naples, Italy.
  • Srivastava M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Cozzolino F; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
  • Kumar Rai S; Department of Biology, Sultan Qaboos University, PO Box 36, Post code 123, Sultanate of Oman.
  • Monti M; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
  • Harlalka GV; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Simpson MA; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Rich P; Department of Pediatric Neurology, Ghaem Medical Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Zip Code- 9919991766, Iran.
  • Al-Salmi F; 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.
  • Patton MA; Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
  • Chioza BA; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
  • Efthymiou S; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
  • Granata F; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
  • Di Rosa G; Department of Psychiatry, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
  • Wiethoff S; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
  • Borgione E; Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
  • Scuderi C; CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
  • Mankad K; Dipartimento di Scienze Chimiche, Università Federico II, Naples, Italy.
  • Hanna MG; 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.
  • Pucci P; Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, London, UK.
  • Houlden H; Department of Neuroradiology, St. George's Hospital, London, UK.
  • Lupski JR; Department of Biology, Sultan Qaboos University, PO Box 36, Post code 123, Sultanate of Oman.
  • 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; Department of Biology, Sultan Qaboos University, PO Box 36, Post code 123, Sultanate of Oman.
Brain ; 140(4): 940-952, 2017 Apr 01.
Article en En | MEDLINE | ID: mdl-28334956
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encéfalo / Proteínas Portadoras / Discapacidades del Desarrollo / Microcefalia Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encéfalo / Proteínas Portadoras / Discapacidades del Desarrollo / Microcefalia Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article