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Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.
Azad, Beenish; Efthymiou, Stephanie; Sultan, Tipu; Scala, Marcello; Alvi, Javeria Raza; Neuray, Caroline; Dominik, Natalia; Gul, Asma; Houlden, Henry.
Affiliation
  • Azad B; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad 44000, Pakistan; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Efthymiou S; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address: s.efthymiou@ucl.ac.uk.
  • Sultan T; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore 54600, Pakistan.
  • Scala M; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Univer
  • Alvi JR; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore 54600, Pakistan.
  • Neuray C; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg, Austria.
  • Dominik N; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Gul A; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad 44000, Pakistan.
  • Houlden H; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.
J Neurol Sci ; 414: 116826, 2020 Jul 15.
Article in En | MEDLINE | ID: mdl-32302805
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Lysosomal Membrane Proteins / Neuronal Ceroid-Lipofuscinoses Limits: Child / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Neurol Sci Year: 2020 Document type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Lysosomal Membrane Proteins / Neuronal Ceroid-Lipofuscinoses Limits: Child / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Neurol Sci Year: 2020 Document type: Article Affiliation country: United kingdom