Elisa Rahikkala

- Docent,
Department of Clinical Medicine (Faculty of Medicine)

elisa.rahikkala@utu.fi

A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development (2025)
- Neurology-GeneticsEuropean Journal of Human Genetics
Granath, Katariina; Kangas, Salla M.; Huhtaniska, Sanna; Suo-Palosaari, Maria; Ronkainen, Veli-Pekka; Helander, Heli; Rahikkala, Elisa; Hinttala, Reetta; Uusimaa, Johanna; Tolonen, Jussi-Pekka
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variantsAutosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G > T variant (2025)
- British Journal of OphthalmologyMolecular Genetics and Genomic Medicine
Lähteenoja, Laura; Ohtonen, Pasi; Falck, Aura; Rahikkala, Elisa Johanna
Geenitestit auttavat selvittämään kuulovian syyn (2025)
- Lääkärilehti
Rahikkala, Elisa; Muittari, Ella; Toivonen, Minna; Pohjola, Pia; Willberg, Tytti; Haanpää, Maria
Kuuloviat (2025) Lääketieteellinen genetiikka Aarnisalo, Antti; Mäkitie, Riikka; Rahikkala, Elisa
Miten oireyhtymiä diagnosoidaan ja tutkitaan? (2025) Lääketieteellinen genetiikka Rahikkala, Elisa; Haanpää, Maria
Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings (2025)
- Mitochondrion
Oikarainen, Jaakko; Hinttala, Reetta; Nayebzadeh, Naemeh; Kangas, Salla M.; Mankinen, Katariina; Rahikkala, Elisa; Kokkonen, Hannaleena; Vieira, Paivi; Suo-Palosaari, Maria; Uusimaa, Johanna
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population (2024)
- International Journal of Audiology
Kraatari-Tiri, Minna; Pykälainen, Tyrni; Pohjola, Pia; Häkli, Sanna; Rahikkala, Elisa
Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3 (2024)
- Molecular Genetics and Genomic Medicine
Rahikkala, Elisa; Komulainen-Ebrahim, Jonna; Tolonen, Jussi-Pekka; Vorimo, Sandra; Suo-Palosaari, Maria; Vieira, Paivi; Piispala, Johanna; Uusimaa, Johanna; Pylkäs, Katri; Mantere, Tuomo
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome (2023)
- Molecular syndromology
Rahikkala Elisa, Väisänen Taneli, Ojala Liisa, Pohjola Pia, Toivonen Minna, Parkkola Riitta, Haanpää Maria K.
(2022)
Rahikkala Elisa, Urpa Lea, Ghimire Bishwa, Topa Hande, Kurki Mitja I., Koskela Maryna, Airavaara Mikko, Hämäläinen Eija, Pylkäs Katri, Körkkö Jarmo, Savolainen Helena, Suoranta Anu, Bertoli-Avella Aida, Rolfs Arndt, Mattila Pirkko, Daly Mark, Palotie Aarno, Pietiläinen Olli, Moilanen Jukka, Kuismin Outi
(2022)
Bharadwaj Thashi, Schrauwen Isabelle, Acharya Anushree, Nouel-Saied Liz M., Väisänen Marja-Leena, Kraatari Minna, Rahikkala Elisa, Jarvela Irma, Kotimäki Jouko, Leal Suzanne M.
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings (2022)
- Journal of Inherited Metabolic Disease
Vieira Päivi, Nagy Irina I., Rahikkala Elisa, Väisänen Marja-Leena, Latva Katariina, Kaunisto Kari, Valmari Pekka, Keski-Filppula Riikka, Haanpää Maria K., Sidoroff Virpi, Miettinen Päivi J., Arkkola Tuula, Ojaniemi Marja, Nuutinen Matti, Uusimaa Johanna, Myllynen Päivi
Psychiatric symptoms in Salla disease (2022)
- European Child and Adolescent Psychiatry
Aulanko Ida, Rahikkala Elisa, Moilanen Jukka