Genetic etiology of progressive pediatric neurological disorders
Aaltio, Juho, Etula, Anna, Ojanen, Simo, Brilhante, Virginia, Lönnqvist, Tuula, Isohanni, Pirjo, Suomalainen, Anu
Published in Pediatric research (01.01.2024)
Published in Pediatric research (01.01.2024)
Get full text
Journal Article
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia
Cooper, Helen M, Yang, Yang, Ylikallio, Emil, Khairullin, Rafil, Woldegebriel, Rosa, Lin, Kai-Lan, Euro, Liliya, Palin, Eino, Wolf, Alexander, Trokovic, Ras, Isohanni, Pirjo, Kaakkola, Seppo, Auranen, Mari, Lönnqvist, Tuula, Wanrooij, Sjoerd, Tyynismaa, Henna
Published in Human molecular genetics (15.04.2017)
Published in Human molecular genetics (15.04.2017)
Get full text
Journal Article
Hearing outcome in congenitally CMV infected children in Finland – Results from follow-up after three years age
Puhakka, Laura, Lappalainen, Maija, Lönnqvist, Tuula, Nieminen, Tea, Boppana, Suresh, Saxen, Harri, Niemensivu, Riina
Published in International journal of pediatric otorhinolaryngology (01.05.2022)
Published in International journal of pediatric otorhinolaryngology (01.05.2022)
Get full text
Journal Article
Health-related quality of life in long-term survivors of childhood brain tumors: a population-based cohort study
Ljungman, Lisa, Remes, Tiina, Westin, Elisabeth, Huittinen, Alina, Lönnqvist, Tuula, Sirkiä, Kirsti, Rantala, Heikki, Ojaniemi, Marja, Harila, Marika, Lähteenmäki, Päivi, Arikoski, Pekka, Wikman, Anna, Harila-Saari, Arja
Published in Supportive care in cancer (01.06.2022)
Published in Supportive care in cancer (01.06.2022)
Get full text
Journal Article
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers
Buzkova, Jana, Nikkanen, Joni, Ahola, Sofia, Hakonen, Anna H, Sevastianova, Ksenia, Hovinen, Topi, Yki‐Järvinen, Hannele, Pietiläinen, Kirsi H, Lönnqvist, Tuula, Velagapudi, Vidya, Carroll, Christopher J, Suomalainen, Anu
Published in EMBO molecular medicine (01.12.2018)
Published in EMBO molecular medicine (01.12.2018)
Get full text
Journal Article
A multicenter study on Leigh syndrome: disease course and predictors of survival
Sofou, Kalliopi, De Coo, Irenaeus F M, Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B, Lönnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A, Tulinius, Már, Darin, Niklas
Published in Orphanet journal of rare diseases (15.04.2014)
Published in Orphanet journal of rare diseases (15.04.2014)
Get full text
Journal Article
Pre- and postdiagnosis growth failure, adult short stature, and untreated growth hormone deficiency in radiotherapy-treated long-term survivors of childhood brain tumor
Anttonen, Julia, Remes, Tiina, Arikoski, Pekka, Lähteenmäki, Päivi, Arola, Mikko, Harila-Saari, Arja, Lönnqvist, Tuula, Pokka, Tytti, Riikonen, Pekka, Sirkiä, Kirsti, Rantala, Heikki, Ojaniemi, Marja
Published in PloS one (06.09.2022)
Published in PloS one (06.09.2022)
Get full text
Journal Article
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
Ylikallio, Emil, Kim, Doyoun, Isohanni, Pirjo, Auranen, Mari, Kim, Eunjoon, Lönnqvist, Tuula, Tyynismaa, Henna
Published in European journal of human genetics : EJHG (01.10.2015)
Published in European journal of human genetics : EJHG (01.10.2015)
Get full text
Journal Article
Early disc degeneration in radiotherapy-treated childhood brain tumor survivors
Grahn, Petra, Remes, Tiina, Kivisaari, Reetta, Suo-Palosaari, Maria H, Arikoski, Pekka M, Koskenkorva, Päivi K T, Lähteenmäki, Päivi M, Lönnqvist, Tuula R I, Ojaniemi, Marja K, Sirkiä, Kirsti H, Sutela, Anna K, Toiviainen-Salo, Sanna-Maria, Rantala, Heikki M J, Harila, Arja H, Niinimäki, Jaakko, Karppinen, Jaro, Ahonen, Matti
Published in BMC musculoskeletal disorders (31.05.2023)
Published in BMC musculoskeletal disorders (31.05.2023)
Get full text
Journal Article
Neurodevelopmental burden at age 5 years in patients with univentricular heart
Sarajuuri, Anne, Jokinen, Eero, Mildh, Leena, Tujulin, Anna-Mari, Mattila, Ilkka, Valanne, Leena, Lönnqvist, Tuula
Published in Pediatrics (Evanston) (01.12.2012)
Published in Pediatrics (Evanston) (01.12.2012)
Get more information
Journal Article
The Burden of Congenital Cytomegalovirus Infection: A Prospective Cohort Study of 20 000 Infants in Finland
Puhakka, Laura, Lappalainen, Maija, Lönnqvist, Tuula, Niemensivu, Riina, Lindahl, Päivi, Nieminen, Tea, Seuri, Raija, Nupponen, Irmeli, Pati, Sunil, Boppana, Suresh, Saxen, Harri
Published in Journal of the Pediatric Infectious Diseases Society (01.07.2019)
Published in Journal of the Pediatric Infectious Diseases Society (01.07.2019)
Get full text
Journal Article
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
Sofou, Kalliopi, de Coo, Irenaeus F M, Ostergaard, Elsebet, Isohanni, Pirjo, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, Lönnqvist, Tuula, Bindoff, Laurence Albert, Tulinius, Már, Darin, Niklas
Published in Journal of medical genetics (01.01.2018)
Published in Journal of medical genetics (01.01.2018)
Get full text
Journal Article
Primary versus non-primary maternal cytomegalovirus infection as a cause of symptomatic congenital infection - register-based study from Finland
Puhakka, Laura, Renko, Marjo, Helminen, Merja, Peltola, Ville, Heiskanen-Kosma, Tarja, Lappalainen, Maija, Surcel, Heljä-Marja, Lönnqvist, Tuula, Saxen, Harri
Published in Infectious diseases (London, England) (03.06.2017)
Published in Infectious diseases (London, England) (03.06.2017)
Get full text
Journal Article
Correction: Pre- and postdiagnosis growth failure, adult short stature, and untreated growth hormone deficiency in radiotherapy-treated long-term survivors of childhood brain tumor
Anttonen, Julia, Remes, Tiina, Arikoski, Pekka, Lähteenmäki, Päivi, Arola, Mikko, Harila-Saari, Arja, Lönnqvist, Tuula, Pokka, Tytti, Riikonen, Pekka, Sirkiä, Kirsti, Rantala, Heikki, Ojaniemi, Marja
Published in PloS one (17.11.2023)
Published in PloS one (17.11.2023)
Get full text
Journal Article
Viral shedding, and distribution of cytomegalovirus glycoprotein H (UL75), glycoprotein B (UL55), and glycoprotein N (UL73) genotypes in congenital cytomegalovirus infection
Puhakka, Laura, Pati, Sunil, Lappalainen, Maija, Lönnqvist, Tuula, Niemensivu, Riina, Lindahl, Päivi, Nieminen, Tea, Seuri, Raija, Nupponen, Irmeli, Boppana, Suresh, Saxen, Harri
Published in Journal of clinical virology (01.04.2020)
Published in Journal of clinical virology (01.04.2020)
Get full text
Journal Article
Attitudes towards genetic testing and information: does parenthood shape the views?
Saastamoinen, Antti, Hyttinen, Virva, Kortelainen, Mika, Aaltio, Juho, Auranen, Mari, Ylikallio, Emil, Lönnqvist, Tuula, Sainio, Markus, Suomalainen, Anu, Tyynismaa, Henna, Isohanni, Pirjo
Published in Journal of community genetics (01.10.2020)
Published in Journal of community genetics (01.10.2020)
Get full text
Journal Article
Neonatal somatosensory evoked potentials persist during hypothermia
Nevalainen, Päivi, Lauronen, Leena, Metsäranta, Marjo, Lönnqvist, Tuula, Ahtola, Eero, Vanhatalo, Sampsa
Published in Acta Paediatrica (01.06.2017)
Published in Acta Paediatrica (01.06.2017)
Get full text
Journal Article