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Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Karakaya, Mert; Mazaheri, Neda; Polat, Ipek; Bharucha-Goebel, Diana; Donkervoort, Sandra; Maroofian, Reza; Shariati, Gholamreza; Hoelker, Irmgard; Monaghan, Kristin; Winchester, Sara; Zori, Robert; Galehdari, Hamid; Bönnemann, Carsten G; Yis, Uluc; Wirth, Brunhilde.
Afiliación
  • Karakaya M; Institute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
  • Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Polat I; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
  • Bharucha-Goebel D; Dokuz Eylül University, Department of Pediatric Neurology, Izmir, Turkey.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.
  • Maroofian R; Division of Neurology, Children's National Health System, Washington, DC, USA.
  • Shariati G; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.
  • Hoelker I; Genetics and Molecular Cell Sciences Research Centre, St George's University of London, Cranmer, 16 Terrace, London, UK.
  • Monaghan K; Medical Research, RILD Welcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Winchester S; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
  • Zori R; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Galehdari H; Institute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
  • Bönnemann CG; GeneDx, Gaithersburg, MD, USA.
  • Yis U; Child Neurology Center of Northwest Florida, Pensacola, FL, USA.
  • Wirth B; Division of Genetics and Metabolism, University of Florida, Gainesville, FL, USA.
Brain ; 140(10): e65, 2017 10 01.
Article en En | MEDLINE | ID: mdl-28969388
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Brain Año: 2017 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Brain Año: 2017 Tipo del documento: Article País de afiliación: Alemania