Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.

Autor: Schrauwen I; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, Columbia University, 630 W 168Th St, New York, NY, 10032, USA. is2632@cumc.columbia.edu., Rajendran Y; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, Columbia University, 630 W 168Th St, New York, NY, 10032, USA., Acharya A; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, Columbia University, 630 W 168Th St, New York, NY, 10032, USA., Öhman S; Kårkulla Samkommun, Kirjala, Finland., Arvio M; Päijät-Häme Wellbeing Services, Neurology, Lahti, Finland., Paetau R; Department of Child Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Siren A; Kanta-Häme Central Hospital, Hämeenlinna, Finland., Avela K; Institute of Biomedicine, University of Turku, Turku, Finland., Granvik J; The Wellbeing Services County of Ostrobothnia, Kokkola, Finland., Leal SM; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, Columbia University, 630 W 168Th St, New York, NY, 10032, USA.; Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA., Määttä T; The Wellbeing Services County of Kainuu, Kajaani, Finland., Kokkonen H; Northern Finland Laboratory Centre NordLab and Medical Research Centre, Oulu University Hospital and University of Oulu, Oulu, Finland., Järvelä I; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

Publikováno v: Scientific reports [Sci Rep] 2024 May 16; Vol. 14 (1), pp. 11239. Date of Electronic Publication: 2024 May 16.

Screening of dementia indicating signs in adults with intellectual disabilities.

Autor: Arvio M; Department of Neurology, Päijät-Häme Joint Municipal Authority, Hämeenlinna, Finland.; Clinical Genetics, Turku University Hospital, Turku, Finland.; PEDEGO, Oulu University Hospital, Oulu, Finland.; Southwest Special Care Municipal Authority, Paimio, Finland., Bjelogrlic-Laakso N; Special Services for Developmentally Disabled, Pitkäniemi, Tampere University Hospital, Tampere, Finland.

Publikováno v: Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1463-1467. Date of Electronic Publication: 2021 May 01.

Prevalence, aetiology and comorbidity of severe and profound intellectual disability in Finland.

Autor: Arvio, M.¹, Sillanpää, M.²

Publikováno v: Journal of Intellectual Disability Research. Feb2003, Vol. 47 Issue 2, p108-112. 5p.

Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).

Autor: Arvio M; Wellbeing Service County of Päijät-Häme, Lahti, Finland.; PEDEGO, Oulu University Hospital, Oulu, Finland.; Department of Child Neurology and General Practice, Turku University and Turku University Central Hospital, Turku, Finland., Lähdetie J; Department of Child Neurology and General Practice, Turku University and Turku University Central Hospital, Turku, Finland., Koivu H; Wellbeing Service County of Päijät-Häme, Lahti, Finland., Sohlberg A; Wellbeing Service County of Päijät-Häme, Lahti, Finland., Pekkonen E; Department of Neurology, Helsinki University Hospital and Department of Clinical Neurosciences (Neurology) University of Helsinki, Helsinki, Finland.

Publikováno v: Case reports in genetics [Case Rep Genet] 2023 Feb 09; Vol. 2023, pp. 3636748. Date of Electronic Publication: 2023 Feb 09 (Print Publication: 2023).

Topiramate in long-term treatment of epilepsy in the intellectually disabled.

Autor: Arvio, M.¹ (AUTHOR), Sillanpää, M.² (AUTHOR)

Publikováno v: Journal of Intellectual Disability Research. Mar2005, Vol. 49 Issue 3, p183-189. 7p.