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Phenotypic continuum of NFU1-related disorders.
Kaiyrzhanov, Rauan; Zaki, Maha S; Lau, Tracy; Sen, Sambuddha; Azizimalamiri, Reza; Zamani, Mina; Sayin, Gözde Yesil; Hilander, Taru; Efthymiou, Stephanie; Chelban, Viorica; Brown, Ruth; Thompson, Kyle; Scarano, Maria Irene; Ganesh, Jaya; Koneev, Kairgali; Gülaçar, Ismail Musab; Person, Richard; Sadykova, Dinara; Maidyrov, Yerdan; Seifi, Tahereh; Zadagali, Aizhan; Bernard, Geneviève; Allis, Katrina; Elloumi, Houda Zghal; Lindy, Amanda; Taghiabadi, Ehsan; Verma, Sumit; Logan, Rachel; Kirmse, Brian; Bai, Renkui; Khalaf, Shaimaa M; Abdel-Hamid, Mohamed S; Sedaghat, Alireza; Shariati, Gholamreza; Issa, Mahmoud; Zeighami, Jawaher; Elbendary, Hasnaa M; Brown, Garry; Taylor, Robert W; Galehdari, Hamid; Gleeson, Joseph J; Carroll, Christopher J; Cowan, James A; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza.
Affiliation
  • Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Lau T; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Sen S; Department of Chemistry and Biochemistry, The Ohio State University, 100 West 18th Avenue, Columbus, Ohio, 43210, USA.
  • Azizimalamiri R; Department of Paediatric Neurology, Golestan, Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Sayin GY; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34098, Turkey.
  • Hilander T; Genetics Section, Molecular and Clinical Sciences, St George's, University of London, London, UK.
  • Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Chelban V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Brown R; Oxford Medical Genetics Laboratories, The Churchill Hospital, Oxford, OX3 7LJ, UK.
  • Thompson K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Scarano MI; Division of Genetics, Cooper Health System, Children's Regional Hospital, Sheridan Pavilion Camden, New Jersy, 08103, USA.
  • Ganesh J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Koneev K; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan.
  • Gülaçar IM; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34098, Turkey.
  • Person R; Department of Genetics, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, 34098, Turkey.
  • Sadykova D; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Maidyrov Y; Astana Medical University, Nur-Sultan, Kazakhstan.
  • Seifi T; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan.
  • Zadagali A; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Bernard G; L.N. Gumilyov Eurasian National University, Nur-Sultan, Kazakhstan.
  • Allis K; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.
  • Elloumi HZ; Division of Medical Genetics, Department Specialized Medicine, McGill University Health Centre, Montreal, Canada.
  • Lindy A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.
  • Taghiabadi E; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Verma S; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Logan R; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Kirmse B; Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Bai R; Department of Neurology, Emory University School of Medicine, Georgia, Atlanta, USA.
  • Khalaf SM; Division of Neurosciences, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
  • Abdel-Hamid MS; Division of Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Sedaghat A; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Shariati G; Pediatrics Department, Assiut University, Assiut, Egypt.
  • Issa M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Zeighami J; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Elbendary HM; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Brown G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
  • Taylor RW; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Galehdari H; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
  • Gleeson JJ; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Carroll CJ; Oxford Medical Genetics Laboratories, The Churchill Hospital, Oxford, OX3 7LJ, UK.
  • Cowan JA; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Moreno-De-Luca A; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.
  • Houlden H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Maroofian R; Department of Neurosciences, University of California, San Diego, La Jolla, California, 92093, USA.
Ann Clin Transl Neurol ; 9(12): 2025-2035, 2022 Dec.
Article in En | MEDLINE | ID: mdl-36256512
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary Limits: Humans Language: En Journal: Ann Clin Transl Neurol Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary Limits: Humans Language: En Journal: Ann Clin Transl Neurol Year: 2022 Document type: Article Affiliation country: Country of publication: