De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

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Ylikallio , E , Ritari , N , Sainio , M , Toppila , J , Kivirikko , S , Tyynismaa , H , Auranen , M & Isohanni , P 2020 , ' De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder ' , Brain : a journal of neurology , vol. 143 , 104 . https://doi.org/10.1093/brain/awaa344

Title: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder
Author: Ylikallio, Emil; Ritari, Niina; Sainio, Markus; Toppila, Jussi; Kivirikko, Sirpa; Tyynismaa, Henna; Auranen, Mari; Isohanni, Pirjo
Other contributor: University of Helsinki, STEMM - Stem Cells and Metabolism Research Program
University of Helsinki, Children's Hospital
University of Helsinki, Centre of Excellence in Stem Cell Metabolism
University of Helsinki, HUS Medical Imaging Center
University of Helsinki, HUSLAB
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, HUS Neurocenter
University of Helsinki, Children's Hospital


















Date: 2020-12
Language: eng
Number of pages: 3
Belongs to series: Brain : a journal of neurology
ISSN: 0006-8950
DOI: https://doi.org/10.1093/brain/awaa344
URI: http://hdl.handle.net/10138/336473
Subject: ALPHA-II SPECTRIN
EPILEPSY
SPTAN1
3112 Neurosciences
3124 Neurology and psychiatry
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