De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

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dc.contributor.author Ylikallio, Emil
dc.contributor.author Ritari, Niina
dc.contributor.author Sainio, Markus
dc.contributor.author Toppila, Jussi
dc.contributor.author Kivirikko, Sirpa
dc.contributor.author Tyynismaa, Henna
dc.contributor.author Auranen, Mari
dc.contributor.author Isohanni, Pirjo
dc.date.accessioned 2021-11-17T22:43:37Z
dc.date.available 2021-12-27T18:45:14Z
dc.date.issued 2020-12
dc.identifier.citation 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
dc.identifier.other PURE: 160693389
dc.identifier.other PURE UUID: d48984bd-be5f-4c6a-b80e-0b940c06cf7e
dc.identifier.other WOS: 000615920000006
dc.identifier.other ORCID: /0000-0002-2493-2422/work/89580676
dc.identifier.other ORCID: /0000-0001-5178-0703/work/89581442
dc.identifier.uri http://hdl.handle.net/10138/336473
dc.format.extent 3
dc.language.iso eng
dc.relation.ispartof Brain : a journal of neurology
dc.rights unspecified
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject ALPHA-II SPECTRIN
dc.subject EPILEPSY
dc.subject SPTAN1
dc.subject 3112 Neurosciences
dc.subject 3124 Neurology and psychiatry
dc.title De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder en
dc.type Letter
dc.contributor.organization STEMM - Stem Cells and Metabolism Research Program
dc.contributor.organization Clinicum
dc.contributor.organization HUS Neurocenter
dc.contributor.organization Faculty of Medicine
dc.contributor.organization Department of Neurosciences
dc.contributor.organization Neurologian yksikkö
dc.contributor.organization Helsinki University Hospital Area
dc.contributor.organization Children's Hospital
dc.contributor.organization HUS Children and Adolescents
dc.contributor.organization Centre of Excellence in Stem Cell Metabolism
dc.contributor.organization HUS Medical Imaging Center
dc.contributor.organization Department of Diagnostics and Therapeutics
dc.contributor.organization HUSLAB
dc.contributor.organization Department of Medical and Clinical Genetics
dc.contributor.organization Henna Tyynismaa / Principal Investigator
dc.contributor.organization Anu Wartiovaara / Principal Investigator
dc.contributor.organization Research Programs Unit
dc.description.reviewstatus Non peer reviewed
dc.relation.doi https://doi.org/10.1093/brain/awaa344
dc.relation.issn 0006-8950
dc.rights.accesslevel openAccess
dc.type.version acceptedVersion

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