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
Contributor organization: STEMM - Stem Cells and Metabolism Research Program
Clinicum
HUS Neurocenter
Faculty of Medicine
Department of Neurosciences
Neurologian yksikkö
Helsinki University Hospital Area
Children's Hospital
HUS Children and Adolescents
Centre of Excellence in Stem Cell Metabolism
HUS Medical Imaging Center
Department of Diagnostics and Therapeutics
HUSLAB
Department of Medical and Clinical Genetics
Henna Tyynismaa / Principal Investigator
Anu Wartiovaara / Principal Investigator
Research Programs Unit
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
Peer reviewed: No
Rights: unspecified
Usage restriction: openAccess
Self-archived version: acceptedVersion


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