Your browser doesn't support javascript.
loading
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Caglayan, Ahmet Okay; Comu, Sinan; Baranoski, Jacob F; Parman, Yesim; Kaymakçalan, Hande; Akgumus, Gozde Tugce; Caglar, Caner; Dolen, Duygu; Erson-Omay, Emine Zeynep; Harmanci, Akdes Serin; Mishra-Gorur, Ketu; Freeze, Hudson H; Yasuno, Katsuhito; Bilguvar, Kaya; Gunel, Murat.
Affiliation
  • Caglayan AO; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA. Electronic address: okaycaglayan@yahoo.com.
  • Comu S; Department of Pediatrics, Division of Pediatric Neurology, Sisli, Memorial Hospital, Istanbul 34385, Turkey.
  • Baranoski JF; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.
  • Parman Y; Department of Neurology, Istanbul University, Faculty of Medicine, Istanbul 34098, Turkey.
  • Kaymakçalan H; Department of Genetics and Bioinformatics, Faculty of Engineering, Bahcesehir University, Istanbul 34353, Turkey.
  • Akgumus GT; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.
  • Caglar C; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.
  • Dolen D; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.
  • Erson-Omay EZ; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.
  • Harmanci AS; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.
  • Mishra-Gorur K; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.
  • Freeze HH; Genetic Disease Program, Sanford-Burnham Medical Research Institute, La Jolla 92037, CA, USA.
  • Yasuno K; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.
  • Bilguvar K; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.
  • Gunel M; Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA. Electronic address: murat.gunel@yale.edu.
Eur J Med Genet ; 58(1): 39-43, 2015 Jan.
Article in En | MEDLINE | ID: mdl-25220016
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / Peripheral Nervous System Diseases / Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / Intellectual Disability / Movement Disorders Type of study: Etiology_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Year: 2015 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / Peripheral Nervous System Diseases / Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / Intellectual Disability / Movement Disorders Type of study: Etiology_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Year: 2015 Type: Article