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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

학술저널

Author: Accogli, Andrea
Zaki, Maha S
Al-Owain, Mohammed
Otaif, Mansour Y
Jackson, Adam
Argilli, Emanuela
Chandler, Kate E
De Goede, Christian GEL
Cora, Tülün
Alvi, Javeria Raza
Eslahi, Atieh
Asl Mohajeri, Mahsa Sadat
Ashtiani, Setareh
Au, PY Billie
Scocchia, Alicia
Alakurtti, Kirsi
Pagnamenta, Alistair T
Toosi, Mehran Beiraghi
Ghayoor Karimiani, Ehsan
Mojarrad, Majid
Arab, Fatemeh
Duymuş, Fahrettin
Scantlebury, Morris H
Yeşil, Gözde
Rosenfeld, Jill Anne
Türkyılmaz, Ayberk
Sağer, Safiye Güneş
Sultan, Tipu
Ashrafzadeh, Farah
Zahra, Tatheer
Rahman, Fatima
Maqbool, Shazia
Abdel-Hamid, Mohamed S
Issa, Mahmoud
Efthymiou, Stephanie
Bauer, Peter
Zifarelli, Giovanni
Salpietro, Vincenzo
Al-Hassnan, Zuhair
Banka, Siddharth
Sherr, Elliot H
Gleeson, Joseph G
Striano, Pasquale
Houlden, Henry
Severino, Mariasavina
Maroofian, Reza
DB Label: Database : eScholarship

원문보기: Open Access (eScholarship)

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

학술저널

issue: Brain communications [Brain Commun] 2023 Aug 17; Vol. 5 (5), pp. fcad222. Date of Electronic Publication: 2023 Aug 17 (Print Publication: 2023).
Author: Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal H3G 1A4, Canada.; Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
Al-Owain M; Department of Medical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Otaif MY; Department of Pediatric, Neurology Section, Abha Maternity and Childern Hospital, Abha 62521, Saudi Arabia.
Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
Chandler KE; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
De Goede CGEL; Department of Paediatric Neurology, Clinical Research Facility, Lancashire Teaching Hospital NHS Trust, Preston PR2 9HT, UK.
Cora T; Department of Medical Genetics, Selcuk University School of Medicine, Konya 42100, Turkey.
Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.
Eslahi A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9137-86177, Iran.
Asl Mohajeri MS; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.
Ashtiani S; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Alberta T2N 4Z6, Canada.
Au PYB; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Alberta T2N 4Z6, Canada.
Scocchia A; Blueprint Genetics Inc, Marlborough, MA 01752, USA.
Alakurtti K; Blueprint Genetics Inc, Marlborough, MA 01752, USA.
Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Toosi MB; Pediatric Neurology Department, Mashhad University of Medical Sciences, Mashhad 913791-6847, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 91375-33116, Iran.
Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 91869-51591, Iran.
Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9137-86177, Iran.; Genetic Center of Khorasan Razavi, Mashhad 91877-53831, Iran.
Arab F; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran 1411713135, Iran.
Duymuş F; Department of Medical Genetics, Selcuk University School of Medicine, Konya 42100, Turkey.; Department of Medical Genetics, Konya City Hospital, Konya 42020, Turkey.
Scantlebury MH; Departments of Pediatrics and Clinical Neuroscience, University of Calgary; Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute & Owerko Center, University of Calgary, Alberta T2N 4N1, Canada.
Yeşil G; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Baylor Genetics Laboratories, Houston, TX 77021, USA.
Türkyılmaz A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon 61080, Turkey.
Sağer SG; Clinics of Pediatric Neurology, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul 34890, Turkey.
Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.
Ashrafzadeh F; Pediatric Neurology Department, Mashhad University of Medical Sciences, Mashhad 913791-6847, Iran.
Zahra T; Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan.
Rahman F; Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan.
Maqbool S; Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan.
Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Bauer P; CENTOGENE, Rostock 18057, Germany.
Zifarelli G; CENTOGENE, Rostock 18057, Germany.
Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila 67100, Italy.
Al-Hassnan Z; Department of Medical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego 92123, USA.
Striano P; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa 16132, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa 16147, Italy.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16146, Italy.
Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
DB Label: Database : MEDLINE

원문보기: Open Access (OUP) Open Access (PubMed Central) 등재 - SCOPUS 조회 - Impact Factor (JCR)

PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran.

학술저널

issue: Iranian journal of basic medical sciences [Iran J Basic Med Sci] 2021 Sep; Vol. 24 (9), pp. 1190-1195.
Author: Jafarzadeh Esfehani R; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Eslahi A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran.
Beiraghi Toosi M; Department of Paediatric Neurology, Ghaem Medical Centre, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad.
Sadr-Nabavi A; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Iranian Academic Center for Education, Culture and Research, (ACECR), Mashhad, Iran.
Kerachian MA; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Asl Mohajeri MS; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Farjami M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran.
Alizade F; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran.
Mojarrad M; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
DB Label: Database : MEDLINE

원문보기: Full Text (원문보기) Open Access (PubMed Central) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

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