View in EDS HTML Full Text PDF Full Text

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Saved in:
Bibliographic Details
Title: Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Authors: Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Rad A; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar 009851, Iran.; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Bertoli-Avella A; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Kallemeijn WW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK., Godwin A; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Lau T; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 1696700, Iran., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany., Normand EA; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Schatz UA; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.; Institute of Human Genetics, Technical University of Munich, Munich, 81675, Germany., Baggelaar MP; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Biomolecular Mass Spectrometry & Proteomics Group, Utrecht University, 3584 CH Utrecht, The Netherlands., Ilyas M; Department of BioEngineering, University of Engineering and Applied Sciences, 19130 Swat, Pakistan.; Centre for Omic Sciences, Islamia College University, 25000 Peshawar, Pakistan., Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan., Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan., Ganieva M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan., Fowler B; Imaging Core, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Aanicai R; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Tayfun GA; Department of Pediatric Genetics, Marmara University Medical School, 34722 Istanbul, Turkey., Al Saman A; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, 49046 Riyadh, Saudi Arabia., Alswaid A; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdullah Specialized Children's Hospital, Riyadh 11461, Saudi Arabia., Amiri N; International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, BC V5Z 1M9, Canada., Asilova N; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand., Yeetong P; Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok 10330, Thailand., Azam M; Pediatrics and Child Neurology, Wah Medical College, 47000 Wah Cantt, Pakistan., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 94149-74877, Iran., Monajemi GB; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran., Mohammadi P; Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran 1416634793, Iran.; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran., Samie S; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran., Banu SH; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Pinto Basto J; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Bauer M; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA., Bauer P; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Beetz C; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Garshasbi M; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran., Issa AH; Department of Neurology, University of Basrah, 61004 Basrah, Iraq., Eyaid W; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia., Ahmed H; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, 13131-99137 Mashhad, Iran., Hassanpour K; Non-Communicable Diseases Research Center, Sabzevar University of Medical Sciences, 319 Sabzevar, Iran., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Neurology, Neurogenetics and Rare Diseases, Boys Town National Research Hospital, Boys Town, NE 68131, USA., Ibrohimov S; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan., Abdul-Majeed BA; Molecular Pathology and Genetics, The Pioneer Molecular Pathology Lab, Baghdad 10044, Iraq., Imdad M; Centre for Human Genetics, Hazara University, 21300 Mansehra, Pakistan., Isrofilov M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan., Kaiyal Q; Department of Pediatric Neurology, Clalit Health Care, 2510500 Haifa, Israel., Khan S; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Kirmse B; SOM-Peds-Genetics, University of Mississippi Medical Center, Jackson MS, 39216, USA., Koster J; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands., Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, 14096-160 São Paulo, Brazil., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Moldovan O; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, 1649-035 Lisboa, Portugal., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Najafi M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rocha ME; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Salpietro V; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Shalata A; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Bruce Rappaport Faculty of Medicine, the Technion institution of Technology, 3200003 Haifa, Israel., Mahroum M; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Talbeya JK; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Department of Radiology, The Bnai Zion Medical Center, Haifa 31048, Israel., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Vazquez D; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA., Vetro A; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy., Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands., Zaman M; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Schrader TA; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK., Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.; Neuroscience, Pharmacology and Child Health Department, University of Florence, 50139 Florence, Italy., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Gleeson J; Department of Neurosciences, University of California, San Diego, CA 92093, USA.; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK., Jamshidi Y; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Human Genetics Centre of Excellence, Novo Nordisk Research Centre Oxford, Oxford, OX3 7FZ, UK., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Vona B; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, 37075 Göttingen, Germany., Schrader M; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Guille M; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK., Tate EW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Source: Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1436-1456.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: 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
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 37951597
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kaiyrzhanov+R%22">Kaiyrzhanov R</searchLink>; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Rad+A%22">Rad A</searchLink>; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar 009851, Iran.; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Lin+SJ%22">Lin SJ</searchLink>; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Bertoli-Avella+A%22">Bertoli-Avella A</searchLink>; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Kallemeijn+WW%22">Kallemeijn WW</searchLink>; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK.<br /><searchLink fieldCode="AU" term="%22Godwin+A%22">Godwin A</searchLink>; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Huang+K%22">Huang K</searchLink>; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Lau+T%22">Lau T</searchLink>; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Petree+C%22">Petree C</searchLink>; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Karimiani+EG%22">Karimiani EG</searchLink>; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 1696700, Iran.<br /><searchLink fieldCode="AU" term="%22Hempel+M%22">Hempel M</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany.<br /><searchLink fieldCode="AU" term="%22Normand+EA%22">Normand EA</searchLink>; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Rudnik-Schöneborn+S%22">Rudnik-Schöneborn S</searchLink>; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.<br /><searchLink fieldCode="AU" term="%22Schatz+UA%22">Schatz UA</searchLink>; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.; Institute of Human Genetics, Technical University of Munich, Munich, 81675, Germany.<br /><searchLink fieldCode="AU" term="%22Baggelaar+MP%22">Baggelaar MP</searchLink>; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Biomolecular Mass Spectrometry & Proteomics Group, Utrecht University, 3584 CH Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ilyas+M%22">Ilyas M</searchLink>; Department of BioEngineering, University of Engineering and Applied Sciences, 19130 Swat, Pakistan.; Centre for Omic Sciences, Islamia College University, 25000 Peshawar, Pakistan.<br /><searchLink fieldCode="AU" term="%22Sultan+T%22">Sultan T</searchLink>; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.<br /><searchLink fieldCode="AU" term="%22Alvi+JR%22">Alvi JR</searchLink>; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ganieva+M%22">Ganieva M</searchLink>; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.<br /><searchLink fieldCode="AU" term="%22Fowler+B%22">Fowler B</searchLink>; Imaging Core, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Aanicai+R%22">Aanicai R</searchLink>; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Tayfun+GA%22">Tayfun GA</searchLink>; Department of Pediatric Genetics, Marmara University Medical School, 34722 Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Al+Saman+A%22">Al Saman A</searchLink>; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, 49046 Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alswaid+A%22">Alswaid A</searchLink>; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdullah Specialized Children's Hospital, Riyadh 11461, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Amiri+N%22">Amiri N</searchLink>; International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, BC V5Z 1M9, Canada.<br /><searchLink fieldCode="AU" term="%22Asilova+N%22">Asilova N</searchLink>; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.<br /><searchLink fieldCode="AU" term="%22Shotelersuk+V%22">Shotelersuk V</searchLink>; Center of Excellence for Medical Genomics, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.<br /><searchLink fieldCode="AU" term="%22Yeetong+P%22">Yeetong P</searchLink>; Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok 10330, Thailand.<br /><searchLink fieldCode="AU" term="%22Azam+M%22">Azam M</searchLink>; Pediatrics and Child Neurology, Wah Medical College, 47000 Wah Cantt, Pakistan.<br /><searchLink fieldCode="AU" term="%22Babaei+M%22">Babaei M</searchLink>; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 94149-74877, Iran.<br /><searchLink fieldCode="AU" term="%22Monajemi+GB%22">Monajemi GB</searchLink>; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Mohammadi+P%22">Mohammadi P</searchLink>; Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran 1416634793, Iran.; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.<br /><searchLink fieldCode="AU" term="%22Samie+S%22">Samie S</searchLink>; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Banu+SH%22">Banu SH</searchLink>; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.<br /><searchLink fieldCode="AU" term="%22Pinto+Basto+J%22">Pinto Basto J</searchLink>; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Kortüm+F%22">Kortüm F</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Bauer+M%22">Bauer M</searchLink>; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA.<br /><searchLink fieldCode="AU" term="%22Bauer+P%22">Bauer P</searchLink>; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Beetz+C%22">Beetz C</searchLink>; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Garshasbi+M%22">Garshasbi M</searchLink>; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.<br /><searchLink fieldCode="AU" term="%22Issa+AH%22">Issa AH</searchLink>; Department of Neurology, University of Basrah, 61004 Basrah, Iraq.<br /><searchLink fieldCode="AU" term="%22Eyaid+W%22">Eyaid W</searchLink>; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Ahmed+H%22">Ahmed H</searchLink>; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Hashemi+N%22">Hashemi N</searchLink>; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, 13131-99137 Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Hassanpour+K%22">Hassanpour K</searchLink>; Non-Communicable Diseases Research Center, Sabzevar University of Medical Sciences, 319 Sabzevar, Iran.<br /><searchLink fieldCode="AU" term="%22Herman+I%22">Herman I</searchLink>; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Neurology, Neurogenetics and Rare Diseases, Boys Town National Research Hospital, Boys Town, NE 68131, USA.<br /><searchLink fieldCode="AU" term="%22Ibrohimov+S%22">Ibrohimov S</searchLink>; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.<br /><searchLink fieldCode="AU" term="%22Abdul-Majeed+BA%22">Abdul-Majeed BA</searchLink>; Molecular Pathology and Genetics, The Pioneer Molecular Pathology Lab, Baghdad 10044, Iraq.<br /><searchLink fieldCode="AU" term="%22Imdad+M%22">Imdad M</searchLink>; Centre for Human Genetics, Hazara University, 21300 Mansehra, Pakistan.<br /><searchLink fieldCode="AU" term="%22Isrofilov+M%22">Isrofilov M</searchLink>; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.<br /><searchLink fieldCode="AU" term="%22Kaiyal+Q%22">Kaiyal Q</searchLink>; Department of Pediatric Neurology, Clalit Health Care, 2510500 Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Khan+S%22">Khan S</searchLink>; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Kirmse+B%22">Kirmse B</searchLink>; SOM-Peds-Genetics, University of Mississippi Medical Center, Jackson MS, 39216, USA.<br /><searchLink fieldCode="AU" term="%22Koster+J%22">Koster J</searchLink>; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lourenço+CM%22">Lourenço CM</searchLink>; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, 14096-160 São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Mitani+T%22">Mitani T</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Moldovan+O%22">Moldovan O</searchLink>; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, 1649-035 Lisboa, Portugal.<br /><searchLink fieldCode="AU" term="%22Murphy+D%22">Murphy D</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Najafi+M%22">Najafi M</searchLink>; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pehlivan+D%22">Pehlivan D</searchLink>; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Rocha+ME%22">Rocha ME</searchLink>; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Schmidts+M%22">Schmidts M</searchLink>; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Shalata+A%22">Shalata A</searchLink>; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Bruce Rappaport Faculty of Medicine, the Technion institution of Technology, 3200003 Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Mahroum+M%22">Mahroum M</searchLink>; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Talbeya+JK%22">Talbeya JK</searchLink>; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Department of Radiology, The Bnai Zion Medical Center, Haifa 31048, Israel.<br /><searchLink fieldCode="AU" term="%22Taylor+RW%22">Taylor RW</searchLink>; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.<br /><searchLink fieldCode="AU" term="%22Vazquez+D%22">Vazquez D</searchLink>; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA.<br /><searchLink fieldCode="AU" term="%22Vetro+A%22">Vetro A</searchLink>; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Waterham+HR%22">Waterham HR</searchLink>; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Zaman+M%22">Zaman M</searchLink>; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.<br /><searchLink fieldCode="AU" term="%22Schrader+TA%22">Schrader TA</searchLink>; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Guerrini+R%22">Guerrini R</searchLink>; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.; Neuroscience, Pharmacology and Child Health Department, University of Florence, 50139 Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Gleeson+J%22">Gleeson J</searchLink>; Department of Neurosciences, University of California, San Diego, CA 92093, USA.; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.<br /><searchLink fieldCode="AU" term="%22Suri+M%22">Suri M</searchLink>; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK.<br /><searchLink fieldCode="AU" term="%22Jamshidi+Y%22">Jamshidi Y</searchLink>; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Human Genetics Centre of Excellence, Novo Nordisk Research Centre Oxford, Oxford, OX3 7FZ, UK.<br /><searchLink fieldCode="AU" term="%22Bhatia+KP%22">Bhatia KP</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, 37075 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Schrader+M%22">Schrader M</searchLink>; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK.<br /><searchLink fieldCode="AU" term="%22Severino+M%22">Severino M</searchLink>; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Guille+M%22">Guille M</searchLink>; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK.<br /><searchLink fieldCode="AU" term="%22Tate+EW%22">Tate EW</searchLink>; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK.<br /><searchLink fieldCode="AU" term="%22Varshney+GK%22">Varshney GK</searchLink>; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1436-1456.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37951597
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/brain/awad380
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1436
    Titles:
      – TitleFull: Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kaiyrzhanov R
      – PersonEntity:
          Name:
            NameFull: Rad A
      – PersonEntity:
          Name:
            NameFull: Lin SJ
      – PersonEntity:
          Name:
            NameFull: Bertoli-Avella A
      – PersonEntity:
          Name:
            NameFull: Kallemeijn WW
      – PersonEntity:
          Name:
            NameFull: Godwin A
      – PersonEntity:
          Name:
            NameFull: Zaki MS
      – PersonEntity:
          Name:
            NameFull: Huang K
      – PersonEntity:
          Name:
            NameFull: Lau T
      – PersonEntity:
          Name:
            NameFull: Petree C
      – PersonEntity:
          Name:
            NameFull: Efthymiou S
      – PersonEntity:
          Name:
            NameFull: Karimiani EG
      – PersonEntity:
          Name:
            NameFull: Hempel M
      – PersonEntity:
          Name:
            NameFull: Normand EA
      – PersonEntity:
          Name:
            NameFull: Rudnik-Schöneborn S
      – PersonEntity:
          Name:
            NameFull: Schatz UA
      – PersonEntity:
          Name:
            NameFull: Baggelaar MP
      – PersonEntity:
          Name:
            NameFull: Ilyas M
      – PersonEntity:
          Name:
            NameFull: Sultan T
      – PersonEntity:
          Name:
            NameFull: Alvi JR
      – PersonEntity:
          Name:
            NameFull: Ganieva M
      – PersonEntity:
          Name:
            NameFull: Fowler B
      – PersonEntity:
          Name:
            NameFull: Aanicai R
      – PersonEntity:
          Name:
            NameFull: Tayfun GA
      – PersonEntity:
          Name:
            NameFull: Al Saman A
      – PersonEntity:
          Name:
            NameFull: Alswaid A
      – PersonEntity:
          Name:
            NameFull: Amiri N
      – PersonEntity:
          Name:
            NameFull: Asilova N
      – PersonEntity:
          Name:
            NameFull: Shotelersuk V
      – PersonEntity:
          Name:
            NameFull: Yeetong P
      – PersonEntity:
          Name:
            NameFull: Azam M
      – PersonEntity:
          Name:
            NameFull: Babaei M
      – PersonEntity:
          Name:
            NameFull: Monajemi GB
      – PersonEntity:
          Name:
            NameFull: Mohammadi P
      – PersonEntity:
          Name:
            NameFull: Samie S
      – PersonEntity:
          Name:
            NameFull: Banu SH
      – PersonEntity:
          Name:
            NameFull: Pinto Basto J
      – PersonEntity:
          Name:
            NameFull: Kortüm F
      – PersonEntity:
          Name:
            NameFull: Bauer M
      – PersonEntity:
          Name:
            NameFull: Bauer P
      – PersonEntity:
          Name:
            NameFull: Beetz C
      – PersonEntity:
          Name:
            NameFull: Garshasbi M
      – PersonEntity:
          Name:
            NameFull: Issa AH
      – PersonEntity:
          Name:
            NameFull: Eyaid W
      – PersonEntity:
          Name:
            NameFull: Ahmed H
      – PersonEntity:
          Name:
            NameFull: Hashemi N
      – PersonEntity:
          Name:
            NameFull: Hassanpour K
      – PersonEntity:
          Name:
            NameFull: Herman I
      – PersonEntity:
          Name:
            NameFull: Ibrohimov S
      – PersonEntity:
          Name:
            NameFull: Abdul-Majeed BA
      – PersonEntity:
          Name:
            NameFull: Imdad M
      – PersonEntity:
          Name:
            NameFull: Isrofilov M
      – PersonEntity:
          Name:
            NameFull: Kaiyal Q
      – PersonEntity:
          Name:
            NameFull: Khan S
      – PersonEntity:
          Name:
            NameFull: Kirmse B
      – PersonEntity:
          Name:
            NameFull: Koster J
      – PersonEntity:
          Name:
            NameFull: Lourenço CM
      – PersonEntity:
          Name:
            NameFull: Mitani T
      – PersonEntity:
          Name:
            NameFull: Moldovan O
      – PersonEntity:
          Name:
            NameFull: Murphy D
      – PersonEntity:
          Name:
            NameFull: Najafi M
      – PersonEntity:
          Name:
            NameFull: Pehlivan D
      – PersonEntity:
          Name:
            NameFull: Rocha ME
      – PersonEntity:
          Name:
            NameFull: Salpietro V
      – PersonEntity:
          Name:
            NameFull: Schmidts M
      – PersonEntity:
          Name:
            NameFull: Shalata A
      – PersonEntity:
          Name:
            NameFull: Mahroum M
      – PersonEntity:
          Name:
            NameFull: Talbeya JK
      – PersonEntity:
          Name:
            NameFull: Taylor RW
      – PersonEntity:
          Name:
            NameFull: Vazquez D
      – PersonEntity:
          Name:
            NameFull: Vetro A
      – PersonEntity:
          Name:
            NameFull: Waterham HR
      – PersonEntity:
          Name:
            NameFull: Zaman M
      – PersonEntity:
          Name:
            NameFull: Schrader TA
      – PersonEntity:
          Name:
            NameFull: Chung WK
      – PersonEntity:
          Name:
            NameFull: Guerrini R
      – PersonEntity:
          Name:
            NameFull: Lupski JR
      – PersonEntity:
          Name:
            NameFull: Gleeson J
      – PersonEntity:
          Name:
            NameFull: Suri M
      – PersonEntity:
          Name:
            NameFull: Jamshidi Y
      – PersonEntity:
          Name:
            NameFull: Bhatia KP
      – PersonEntity:
          Name:
            NameFull: Vona B
      – PersonEntity:
          Name:
            NameFull: Schrader M
      – PersonEntity:
          Name:
            NameFull: Severino M
      – PersonEntity:
          Name:
            NameFull: Guille M
      – PersonEntity:
          Name:
            NameFull: Tate EW
      – PersonEntity:
          Name:
            NameFull: Varshney GK
      – PersonEntity:
          Name:
            NameFull: Houlden H
      – PersonEntity:
          Name:
            NameFull: Maroofian R
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 04
              M: 04
              Text: 2024 Apr 04
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 147
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
ResultId 1