المؤلفون: Mohammad A Khan, Esther M Ellis, Hasitha A Tissera, Mohammad Y Alvi, Fatima F Rahman, Faisal Masud, Angelia Chow, Shiqin Howe, Vijaykrishna Dhanasekaran, Brett R Ellis, Duane J Gubler

المصدر: PLoS ONE, Vol 8, Iss 3, p e56391 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23520453/pdf/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/09ab55bd1f8d4c9ab9cd0647c51ef6a2

المؤلفون: Almannai M; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt., Maroofian R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Saadi NW; College of Medicine, University of Baghdad, Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Filimban B; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Dafsari HS; Department of Pediatrics, Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Randall Centre for Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Max-Planck-Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), Cologne, Germany., Rahman F; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Maqbool S; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al Mutairi F; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alsharhan H; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Abdelaty O; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Bin-Hasan S; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Alqattan A; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Hunter JV; Texas Children Hospital, Houston, Texas, USA.; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Genetics Clinics, University Hospital Sharjah, Sharjah, United Arab Emirates.

المصدر: Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 620-629. Date of Electronic Publication: 2024 Feb 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Phenotype*, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Brain/diagnostic imaging ; Brain/pathology ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Genetic Association Studies ; Genetic Predisposition to Disease ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Mutation ; Pedigree

المؤلفون: Aughey G, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Ali Z, Abdulllah U, Cheema HA, Anjum MN, Morel G, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Murtaza BN, Rehman MU, Consortium GE, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Gleeson J, Baig SM, Efthymiou S, Taylor JC, Severino M, Jepson JE, Houlden H

مؤلفون مشاركون: SYNAPS Study Group

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 05. Date of Electronic Publication: 2024 May 05.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Sidpra J; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK., Sudhakar S; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Biswas A; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Massey F; Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Turchetti V; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, WC1N 3BG, UK., Lau T; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, WC1N 3BG, UK., Cook E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Alvi JR; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt., Jewell JL; Department of Paediatric Neurology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Orsini A; Department of Paediatric Neurology, University Hospital of Pisa, 56126 Pisa, Italy., Vignoli A; Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Università degli Studi di Milano, 20142 Milano, Italy., Federico Z; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Università degli Studi di Milano, 20142 Milano, Italy., Rosenblum J; Department of Clinical Genetics, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Schoonjans AS; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., de Wachter M; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Delgado Alvarez I; Department of Neuroradiology, Vall d'Hebron University Hospital, 08035 Barcelona, Spain., Felipe-Rucián A; Department of Paediatric Neurology, Vall d'Hebron University Hospital, 08035 Barcelona, Spain., Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut 71515, Egypt., Haider S; Department of Paediatrics, Wah Medical College NUMS, Wah Cantonment, Punjab 47000, Pakistan., Zaman M; Department of Paediatric Neurology and Development, Dr M.R. Khan Shishu Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Banu S; Department of Paediatric Neurology and Development, Dr M.R. Khan Shishu Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Anwaar N; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Rahman F; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Maqbool S; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Yadav R; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Salpietro V; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, WC1N 3BG, UK., Patel R; Department of Paediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Houston, TX 77030, USA., Radhakrishnan R; Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Prabhu SP; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Lichtenbelt K; Department of Clinical Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Murakami Y; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Osaka 565, Japan., Löbel U; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Wakeling E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Jones W; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Hay E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Bhate S; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Jacques TS; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Mirsky DM; Department of Neuroradiology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA., Whitehead MT; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt., Sultan T; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Jansen AC; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Lequin M; Department of Radiology and Nuclear Medicine, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands., de Vries LS; Department of Neonatology, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Edmondson AC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Campeau PM; Department of Paediatrics, CHU Sainte Justine Research Centre, University of Montreal, Montreal, Canada, QC H3T 1C5., Houlden H; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, WC1N 3BG, UK., McTague A; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.; Developmental Neurosciences, University College London Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK., Efthymiou S; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London, WC1N 3BG, UK., Mankad K; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.

المصدر: Brain : a journal of neurology [Brain] 2024 Mar 08. Date of Electronic Publication: 2024 Mar 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

المؤلفون: Almousa H; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada., Lewis SA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; 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.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Pagnozzi A; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane 4029, Australia., Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Heim JA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Cornejo P; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Department of Radiology, Mayo Clinic, Scottsdale, AZ 85259, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12622, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo 4460015, Egypt., Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan., Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan., Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan., Neilson DE; Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Vemuri A; Department of Pathology, University of Chicago, Chicago, IL 60637, USA., Jin SC; Department of Genetics, Washington University, St.Louis, MO 63110, USA., Yang XR; 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., Heidari A; Reference Laboratory, Qazvin Medical University, Qazvin 34148-33245, Iran., van Gassen K; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands., Trimouille A; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux-Hôpital Pellegrin, Place Amélie Raba Léon, 33000 Bordeaux, France., Thauvin-Robinet C; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France., Liu J; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France., Tomoum H; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt., Shata MO; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad 13944-91388, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St.George's, University of London, London SW17 0RE, UK., Yeşil G; Istanbul Medical Faculty Department of Medical Genetics, Istanbul University, Istanbul 34452, Turkey., Lingappa L; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India., Baruah D; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India., Ebrahimzadeh F; Department of Internal Medicine, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran., Van-Gils J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands., Faivre L; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran., Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran., Mohammad R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., van der Smagt J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands., Qari A; Medical Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada., Innes AM; 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., Dursun A; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey., Özgül RK; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey., Akar HT; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey., Bilguvar K; Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Department of Neurosurgery and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Mignot C; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75012 Paris, France., Keren B; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France., Raveli C; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, 75012 Paris, France., Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France., Afenjar A; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France., Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands., Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Sacher M; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A0C7, Canada., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.

المصدر: Brain : a journal of neurology [Brain] 2024 Jan 04; Vol. 147 (1), pp. 311-324.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics , Intellectual Disability*/genetics , Dystonia* , Neurodevelopmental Disorders*/genetics , Epilepsy*/genetics, Animals ; Humans ; Vesicular Transport Proteins/genetics

المؤلفون: Saddington E; Emergency and Trauma Centre, Alfred Health Emergency Service, Melbourne, Victoria, Australia., Rahman F; Emergency and Trauma Centre, Alfred Health Emergency Service, Melbourne, Victoria, Australia., Stuart J; Emergency and Trauma Centre, Alfred Health Emergency Service, Melbourne, Victoria, Australia., Hocking J; Emergency and Trauma Centre, Alfred Health Emergency Service, Melbourne, Victoria, Australia., Talarico C; Emergency and Trauma Centre, Alfred Health Emergency Service, Melbourne, Victoria, Australia., Smit V; Emergency and Trauma Centre, Alfred Health Emergency Service, Melbourne, Victoria, Australia.; School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia., Cameron PA; Emergency and Trauma Centre, Alfred Health Emergency Service, Melbourne, Victoria, Australia.; School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia., Mitra B; Emergency and Trauma Centre, Alfred Health Emergency Service, Melbourne, Victoria, Australia.; School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia.

المصدر: Emergency medicine Australasia : EMA [Emerg Med Australas] 2023 Dec; Vol. 35 (6), pp. 1044-1046. Date of Electronic Publication: 2023 Oct 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Pub Country of Publication: Australia NLM ID: 101199824 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1742-6723 (Electronic) Linking ISSN: 17426723 NLM ISO Abbreviation: Emerg Med Australas Subsets: MEDLINE

مواضيع طبية MeSH: Emergency Service, Hospital* , Triage*/methods, Humans ; Prospective Studies ; Referral and Consultation ; Primary Health Care

المؤلفون: Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Ferla M; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK., Tortora D; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Saadi SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan., Abdullah U; University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, 46300 Rawalpindi, Pakistan., Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Yeşil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Al Shamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE., Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt., Saadi NW; College of Medicine, University of Baghdad, 10071 Baghdad, Iraq.; Children Welfare Teaching Hospital, 10071 Baghdad, Iraq., Al Mutairi F; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia., Alabdi L; Department of Zoology, College of Science, King Saud University, 11421 Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia., Beetz C; Centogene GmbH, 18055 Rostock, Germany., Ali Z; Department of Cellular and Molecular Medicine, WJC PANUM, University of Copenhagen, DK-1165 Copenhagen, Denmark.; Centre for Biotechnology and Microbiology, University of Swat, Swat 19120, Pakistan., Toosi MB; Pediatric Neurology Department Pediatric Ward Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; Department of Child Neurology, Children's Hospital, Paediatric Research Center, University of Helsinki and Helsinki University Hospital, 00014 Helsinki, Finland., Muhammad J; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Centre for Regenerative Medicine and Stem Cell Research, Juma Building, Aga Khan University, Karachi 74800, Pakistan., Khan S; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan., Al Shalan M; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia., Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA., Marom D; Genetics Institute and Genomic Center, Tel Aviv Sourasky Medical Center, and Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel., Elhanan E; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait., Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Spaull R; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Meng L; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK., Lalani S; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK., Maqbool S; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan., Rahman F; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan., Seeger J; Center for Social Pediatrics and Epilepsy Outpatient Clinic Frankfurt Mitte, 60316 Frankfurt am Main, Germany., Palculict TB; GeneDx, Gaithersburg, MD 20877, USA., Lau T; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Mencacci NE; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland., Begemann A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland., Akbas S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Aslanger AD; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Salpietro V; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences (DISCAB), University of L'Aquila, 67100 L'Aquila, Italy., Yousaf H; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan., Ben-Shachar S; Clalit Research Institute, Clalit Health Services, 6578898 Ramat Gan, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Ejeskär K; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden., Al Aqeel AI; Department of Pediatrics, Prince Sultan Military Medical City, 12233 Riyadh, Saudi Arabia.; American University of Beirut, 1107 2020 Beirut, Lebanon.; Alfaisal University, 11533 Riyadh, Saudi Arabia., High FA; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Harvard Medical School, Boston, MA 02115, USA., Armstrong-Javors AE; Harvard Medical School, Boston, MA 02115, USA.; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Diabetes Research center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Asl SN; Department of Pediatrics Endocrinology, Mashhad University of Medical Sciences, Mashhad, Iran., Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, 3000 Leuven, Belgium., Zifarelli G; Centogene GmbH, 18055 Rostock, Germany., Burglen L; Cerebellar Malformations and Congenital diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, 75015 Paris, France., Ravelli C; Pediatric Neurology Department, Movement Disorders Center, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France., Zschocke J; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria., Schatz UA; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, 81675 Munich, Germany., Ghavideldarestani M; Hull York Medical School, Hull HU6 7RX, UK., Kamel WA; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Neurology, Faculty of Medicine, Beni-Suef University, 62521 Beni Suef, Egypt., Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven-University of Leuven, 3000 Leuven, Belgium., Hackenberg A; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, 8032 Zürich, Switzerland., Taylor JC; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK., Al-Gazali L; Departments of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE., Bauer P; Centogene GmbH, 18055 Rostock, Germany., Gleeson JJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran., Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Chung WK; Boston Children's Hospital and Harvard Medical School Boston, MA 02115, USA., Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, 74800 Karachi, Pakistan., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

المصدر: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5031-5043.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/genetics , Neurodevelopmental Disorders*/genetics , Epilepsy, Generalized*/pathology , Movement Disorders*/diagnostic imaging , Movement Disorders*/genetics , Cataract*/genetics , Cataract*/pathology, Female ; Humans ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Cerebellum/pathology ; Atrophy/pathology ; Phenotype ; Mediator Complex/genetics

المؤلفون: Arshad U; Clinical Pharmacology Modeling and Simulation, GSK, Upper Providence, Pennsylvania, USA., Rahman F; Clinical Pharmacology Modeling and Simulation, GSK, Upper Providence, Pennsylvania, USA., Hanan N; Clinical Pharmacology Modeling and Simulation, GSK, Upper Providence, Pennsylvania, USA., Chen C; Clinical Pharmacology Modeling and Simulation, GSK, Upper Providence, Pennsylvania, USA.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Sep; Vol. 38 (9), pp. 1716-1727. Date of Electronic Publication: 2023 Jul 03.

نوع المنشور: Meta-Analysis; Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Parkinson Disease*/drug therapy, Humans ; Research Design

المؤلفون: 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.

المصدر: Brain communications [Brain Commun] 2023 Aug 17; Vol. 5 (5), pp. fcad222. Date of Electronic Publication: 2023 Aug 17 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

المؤلفون: Sczakiel HL; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Max Planck Institute for Molecular Genetics, RG Development & Disease, Ihnestr. 63-73, 14195, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, Charitéplatz 1, 10117, Berlin, Germany., Zhao M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Max Planck Institute for Molecular Genetics, RG Development & Disease, Ihnestr. 63-73, 14195, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany., Wollert-Wulf B; Biology of Malignant Lymphomas, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, 13125, Germany.; Experimental and Clinical Research Center, a cooperation between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and the Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany.; Hematology, Oncology and Cancer Immunology, Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany., Danyel M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Charitéplatz 1, 10117, Berlin, Germany., Ehmke N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany., Stoltenburg C; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Sozialpädiatrisches Zentrum Neuropädiatrie, Augustenburger Platz 1, 13353, Berlin, Germany., Damseh N; Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine., Al-Ashhab M; Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine., Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, Western University, London, ON, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Andrade A; Division of Pediatric Neurology, London Health Sciences Centre, Western University, London, ON, Canada., Schallner J; Department of Sozialpaediatrisches Zentrum, Klinik fuer Kinder und Jugendmedizin, Universitaetsklinikum Dresden, Fetscherstrasse 74, 01307, Dresden, Germany., Porrmann J; Institute for Clinical Genetics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany., McDonald K; Pediatric Neurology, University of Mississippi Medical Center, Jackson, MS, USA., Liao M; GeneDx, LLC, Gaithersburg, MD, 20877, USA., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Dierksen N; Evangelisches Krankenhaus Oberhausen, Oberhausen, Germany., Mojarrad M; 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., Bakaeean B; Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran., Calame DG; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, 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., Firoozfar Z; Palindrome, Isfahan, Iran., Seyedhassani SM; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran., Mohammadi SA; Meybod Genetics Research Center, Yazd, Iran.; Yazd Welfare Organisation, Yazd, Iran., Anwaar N; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences and The Children's Hospital, Lahore, Pakistan., Rahman F; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences and The Children's Hospital, Lahore, Pakistan., Seelow D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany., Janz M; Biology of Malignant Lymphomas, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, 13125, Germany.; Experimental and Clinical Research Center, a cooperation between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and the Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany.; Hematology, Oncology and Cancer Immunology, Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany., Horn D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany., Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, WC1N 3BG, UK., Boschann F; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany. felix.boschann@charite.de.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany. felix.boschann@charite.de.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Charitéplatz 1, 10117, Berlin, Germany. felix.boschann@charite.de.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Aug; Vol. 31 (8), pp. 905-917. Date of Electronic Publication: 2023 May 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Movement Disorders*, Humans ; Disease Progression ; Fibrosis ; HEK293 Cells ; Phenotype ; Seizures/genetics ; Syndrome