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

Titel: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder
Författare: Ylikallio, Emil; Ritari, Niina; Sainio, Markus; Toppila, Jussi; Kivirikko, Sirpa; Tyynismaa, Henna; Auranen, Mari; Isohanni, Pirjo
Upphovmannens organisation: 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
Datum: 2020-12
Språk: eng
Sidantal: 3
Tillhör serie: Brain : a journal of neurology
ISSN: 0006-8950
DOI: https://doi.org/10.1093/brain/awaa344
Permanenta länken (URI): http://hdl.handle.net/10138/336473
Subject: ALPHA-II SPECTRIN
EPILEPSY
SPTAN1
3112 Neurosciences
3124 Neurology and psychiatry
Referentgranskad: Nej
Licens: unspecified
Användningsbegränsning: openAccess
Parallelpublicerad version: acceptedVersion


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