Elisa Rahikkala

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

elisa.rahikkala@utu.fi

Publications

A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2 (2025)
- Neurology-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
(A1 Refereed original research article in a scientific journal)
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants (2025)
- British Journal of Ophthalmology
Lähteenoja, Laura; Ohtonen, Pasi; Falck, Aura; Rahikkala, Elisa Johanna
(A1 Refereed original research article in a scientific journal)
Geenitestit auttavat selvittämään kuulovian syyn (2025)
- Lääkärilehti
Rahikkala, Elisa; Muittari, Ella; Toivonen, Minna; Pohjola, Pia; Willberg, Tytti; Haanpää, Maria
(A2 Refereed review article in a scientific journal )
Kuuloviat (2025) Lääketieteellinen genetiikka Aarnisalo, Antti; Mäkitie, Riikka; Rahikkala, Elisa
(D2 Article in a professional compilation book)
Miten oireyhtymiä diagnosoidaan ja tutkitaan? (2025) Lääketieteellinen genetiikka Rahikkala, Elisa; Haanpää, Maria
(D2 Article in a professional compilation book)
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
(A1 Refereed original research article in a scientific journal)
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
(A1 Refereed original research article in a scientific journal)
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
(A1 Refereed original research article in a scientific journal)
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.
(A2 Refereed review article in a scientific journal )
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development (2022)
- European Journal of Human Genetics
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
(A1 Refereed original research article in a scientific journal)
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G > T variant (2022)
- Molecular Genetics and Genomic Medicine
Bharadwaj Thashi, Schrauwen Isabelle, Acharya Anushree, Nouel-Saied Liz M., Väisänen Marja-Leena, Kraatari Minna, Rahikkala Elisa, Jarvela Irma, Kotimäki Jouko, Leal Suzanne M.
(A1 Refereed original research article in a scientific journal)
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
(A1 Refereed original research article in a scientific journal)
Psychiatric symptoms in Salla disease (2022)
- European Child and Adolescent Psychiatry
Aulanko Ida, Rahikkala Elisa, Moilanen Jukka
(A1 Refereed original research article in a scientific journal)