T
Tuula Lönnqvist
Researcher at University of Helsinki
Publications - 57
Citations - 2092
Tuula Lönnqvist is an academic researcher from University of Helsinki. The author has contributed to research in topics: Population & Medicine. The author has an hindex of 23, co-authored 52 publications receiving 1680 citations. Previous affiliations of Tuula Lönnqvist include Massachusetts Institute of Technology & Boston Children's Hospital.
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Journal ArticleDOI
Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries
Jørgen H. Olsen,Johanne M D Hahnemann,Anne Lise Børresen-Dale,Karen Brøndum-Nielsen,Lennart Hammarström,Ruth A. Kleinerman,Helena Kääriäinen,Tuula Lönnqvist,Risto Sankila,Niels Seersholm,Steinar Tretli,Jonathan Yuen,John D. Boice,Margaret A. Tucker +13 more
TL;DR: The epidemiologic findings suggest, however, that, even if ATM mutations are responsible for some breast cancer cases, ATM is a relatively weak genetic risk factor for the disease.
Journal ArticleDOI
Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism
Joni Nikkanen,Saara Forsström,Liliya Euro,Ilse Paetau,Rebecca A. Kohnz,Liya Wang,Dmitri Chilov,Jenni Viinamäki,Anne Roivainen,Päivi Marjamäki,Heidi Liljenbäck,Sofia Ahola,Jana Buzkova,Mügen Terzioglu,Nahid Akhtar Khan,Sini Pirnes-Karhu,Anders Paetau,Tuula Lönnqvist,Antti Sajantila,Pirjo Isohanni,Henna Tyynismaa,Daniel K. Nomura,Brendan J. Battersby,Vidya Velagapudi,Christopher Carroll,Anu Suomalainen +25 more
TL;DR: It is reported that mtDNA replication disorders caused by TWINKLE mutations-mitochondrial myopathy (MM) and infantile onset spinocerebellar ataxia (IOSCA)-remodel cellular dNTP pools in mice are reported and targets for metabolic therapy are offered.
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A multicenter study on Leigh syndrome: Disease course and predictors of survival
Kalliopi Sofou,Irenaeus F.M. de Coo,Pirjo Isohanni,Pirjo Isohanni,Elsebet Ostergaard,Karin Naess,Linda De Meirleir,Charalampos Tzoulis,Charalampos Tzoulis,Johanna Uusimaa,Johanna Uusimaa,Isabell B De Angst,Tuula Lönnqvist,Helena Pihko,Katariina Mankinen,Laurence A. Bindoff,Laurence A. Bindoff,Mar Tulinius,Niklas Darin +18 more
TL;DR: The presence of pathological signs at birth and a history of epileptic seizures were associated with higher occurrence of acute exacerbations and/or relapses, and increased lactate in the cerebrospinal fluid was significantly correlated to a more severe disease course.
Journal ArticleDOI
Diagnosis of the neuronal ceroid lipofuscinoses: an update.
TL;DR: Current methods available to achieve clinical, pathological, biochemical and genetic diagnosis in children presenting with symptoms suggestive of one of the NCLs are described.
Journal ArticleDOI
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Tobias B. Haack,Erika Ignatius,Javier Calvo-Garrido,Arcangela Iuso,Pirjo Isohanni,Camilla Maffezzini,Tuula Lönnqvist,Anu Suomalainen,Matteo Gorza,Laura S. Kremer,Elisabeth Graf,Monika Hartig,Riccardo Berutti,Martin Paucar,Per Svenningsson,Henrik Stranneheim,Henrik Stranneheim,Göran Brandberg,Anna Wedell,Anna Wedell,Manju A Kurian,Manju A Kurian,Susan A. Hayflick,Paola Venco,Valeria Tiranti,Tim M. Strom,Martin Dichgans,Martin Dichgans,Rita Horvath,Elke Holinski-Feder,Christoph Freyer,Christoph Freyer,Thomas Meitinger,Holger Prokisch,Jan Senderek,Anna Wredenberg,Anna Wredenberg,Christopher Carroll,Thomas Klopstock,Thomas Klopstock +39 more
TL;DR: Three different biallelic loss-of-function variants in SQSTM1 are identified in nine affected individuals from four families with a childhood- or adolescence-onset neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline.