De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

Show simple item record Ylikallio, Emil Ritari, Niina Sainio, Markus Toppila, Jussi Kivirikko, Sirpa Tyynismaa, Henna Auranen, Mari Isohanni, Pirjo 2021-11-17T22:43:37Z 2021-12-27T18:45:14Z 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 .
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.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 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.issn 0006-8950
dc.rights.accesslevel openAccess
dc.type.version acceptedVersion

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