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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa, Hashem; Lewis, Sara A; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A; Cornejo, Patricia; Zaki, Maha S; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurélien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O; Hashem, Mais O; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Gözde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B; Innes, A Micheil; Dursun, Ali; Özgül, R Köksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia.
Affiliation
  • Almousa H; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.
  • Lewis SA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Bakhtiari S; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
  • Nordlie SH; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Pagnozzi A; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
  • Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Efthymiou S; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
  • Heim JA; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane 4029, Australia.
  • Cornejo P; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Zaki MS; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
  • Anwar N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Maqbool S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Rahman F; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Neilson DE; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.
  • Vemuri A; Department of Radiology, Mayo Clinic, Scottsdale, AZ 85259, USA.
  • Jin SC; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12622, Egypt.
  • Yang XR; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo 4460015, Egypt.
  • Heidari A; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
  • van Gassen K; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
  • Trimouille A; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
  • Thauvin-Robinet C; Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Liu J; Department of Pathology, University of Chicago, Chicago, IL 60637, USA.
  • Bruel AL; Department of Genetics, Washington University, St.Louis, MO 63110, USA.
  • Tomoum H; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada.
  • Shata MO; Reference Laboratory, Qazvin Medical University, Qazvin 34148-33245, Iran.
  • Hashem MO; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.
  • Toosi MB; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux-Hôpital Pellegrin, Place Amélie Raba Léon, 33000 Bordeaux, France.
  • Karimiani EG; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
  • Yesil G; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
  • Lingappa L; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.
  • Baruah D; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Ebrahimzadeh F; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
  • Van-Gils J; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
  • Faivre L; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.
  • Zamani M; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.
  • Galehdari H; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.
  • Sadeghian S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
  • Shariati G; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.
  • Mohammad R; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad 13944-91388, Iran.
  • van der Smagt J; Molecular and Clinical Sciences Institute, St.George's, University of London, London SW17 0RE, UK.
  • Qari A; Istanbul Medical Faculty Department of Medical Genetics, Istanbul University, Istanbul 34452, Turkey.
  • Vincent JB; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.
  • Innes AM; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.
  • Dursun A; Department of Internal Medicine, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.
  • Özgül RK; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.
  • Akar HT; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
  • Bilguvar K; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.
  • Mignot C; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.
  • Keren B; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.
  • Raveli C; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran.
Brain ; 147(1): 311-324, 2024 01 04.
Article in En | MEDLINE | ID: mdl-37713627
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonia / Epilepsy / Neurodevelopmental Disorders / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Brain Year: 2024 Document type: Article Affiliation country: Canada Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonia / Epilepsy / Neurodevelopmental Disorders / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Brain Year: 2024 Document type: Article Affiliation country: Canada Country of publication: United kingdom