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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Calame, Daniel G; Herman, Isabella; Maroofian, Reza; Marshall, Aren E; Donis, Karina Carvalho; Fatih, Jawid M; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M; Sousa, Sergio B; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A; Rocca, Clarissa; Hunter, Jill V; Sutton, V Reid; Emrick, Lisa T; Boycott, Kym M; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W; Zaki, Maha S; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh-Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al-Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.
Affiliation
  • Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Maroofian R; Texas Children's Hospital, Houston, TX, USA.
  • Marshall AE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Donis KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Fatih JM; Texas Children's Hospital, Houston, TX, USA.
  • Mitani T; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Du H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Grochowski CM; Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
  • Sousa SB; Medical Genetics Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.
  • Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Bakhtiari S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Ito YA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Rocca C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Hunter JV; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.
  • Sutton VR; Medical Genetics Unit, Hospital Pediatrico, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.
  • Emrick LT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Boycott KM; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Lossos A; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.
  • Fellig Y; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Prus E; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Kalish Y; Texas Children's Hospital, Houston, TX, USA.
  • Meiner V; Division of Neuroradiology, Edward B. Singleton Department of Radiology, Texas Children's Hospital, Houston, TX, USA.
  • Suerink M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Ruivenkamp C; Texas Children's Hospital, Houston, TX, USA.
  • Muirhead K; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Saadi NW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Zaki MS; Texas Children's Hospital, Houston, TX, USA.
  • Bouman A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Barakat TS; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Skidmore DL; Department of Pathology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Osmond M; Hematology and Bone Marrow Transplantation Division, Hadassah Medical Center and Hebrew University, Jerusalem, Israel.
  • Silva TO; Hematology and Bone Marrow Transplantation Division, Hadassah Medical Center and Hebrew University, Jerusalem, Israel.
  • Murphy D; Department of Genetics, Hadassah Medical Center and Hebrew University, Jerusalem, Israel.
  • Karimiani EG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Jamshidi Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Jaddoa AG; Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, Philadelphia, PA, USA.
  • Tajsharghi H; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq.
  • Jin SC; Clinical Genetics Department, Human Genetics and Genome Research Institute, Center of Excellence of Human Genetics, National Research Centre, Cairo, Dokki, Egypt.
  • Abbaszadegan MR; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Ebrahimzadeh-Vesal R; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Hosseini S; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Alavi S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Bahreini A; Medical Genetics Service, Porto Alegre Clinical Hospital, Porto Alegre, Brazil.
  • Zarean E; Postgraduate Program in Medicine: Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
  • Salehi MM; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Al-Sannaa NA; Genetics Section, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
  • Zifarelli G; Genetics Section, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
  • Bauer P; Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq.
  • Robson SC; School of Health Sciences, Division Biomedicine, University of Skövde, Skövde, Sweden.
Ann Neurol ; 92(2): 304-321, 2022 08.
Article in En | MEDLINE | ID: mdl-35471564
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Apyrase / Spastic Paraplegia, Hereditary / White Matter / Intellectual Disability Limits: Humans Language: En Journal: Ann Neurol Year: 2022 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Apyrase / Spastic Paraplegia, Hereditary / White Matter / Intellectual Disability Limits: Humans Language: En Journal: Ann Neurol Year: 2022 Type: Article Affiliation country: United States