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Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
Helal, Mayada; Mazaheri, Neda; Shalbafan, Bita; Malamiri, Reza Azizi; Dilaver, Nafi; Buchert, Rebecca; Mohammadiasl, Javad; Golchin, Neda; Sedaghat, Alireza; Mehrjardi, Mohammad Yahya Vahidi; Haack, Tobias B; Riess, Olaf; Chung, Wendy K; Galehdari, Hamid; Shariati, Gholamreza; Maroofian, Reza.
Afiliação
  • Helal M; Department of Pediatrics, Division of Molecular Genetics, Columbia University Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA.
  • Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Shalbafan B; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
  • Malamiri RA; Iranian Social Security Organization, Tehran University of Medical Sciences, Tehran, Iran.
  • Dilaver N; Department of Paediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Buchert R; Swansea University Medical School, Swansea University, Swansea, Wales, SA2 8PP, UK.
  • Mohammadiasl J; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72074, Tuebingen, Germany.
  • Golchin N; Department of Genetics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Sedaghat A; Ahvaz Noor Genetics Laboratory, Ahvaz, Iran.
  • Mehrjardi MYV; Ahvaz Noor Genetics Laboratory, Ahvaz, Iran.
  • Haack TB; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
  • Riess O; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Chung WK; Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Galehdari H; Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Shariati G; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72074, Tuebingen, Germany.
  • Maroofian R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72074, Tuebingen, Germany.
Neurol Sci ; 39(11): 1917-1925, 2018 Nov.
Article em En | MEDLINE | ID: mdl-30128655
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Saúde da Família / Fatores de Troca do Nucleotídeo Guanina / Mutação Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Saúde da Família / Fatores de Troca do Nucleotídeo Guanina / Mutação Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article