Mari Auranen

Affiliations

Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Publications (19)

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Brain : a journal of neurology

Avec: Macarena Cabrera-Serrano , Laure Caccavelli , Marco Savarese , Anna Vihola , Manu Jokela , Mridul Johari , Thierry Capiod , Marine Madrange , Enrico Bugiardini , Stefen Brady , Rosaline Quinlivan , Ashirwad Merve , Renata Scalco , David Hilton-Jones , Henry Houlden , Halil Ibrahim Aydin , Serdar Ceylaner , Sarah Drewes , Jerry Vockley , Rhonda L Taylor , Chiara Folland , Aasta Kelly , Hayley Goullee , Emil Ylikallio , Mari Auranen , Henna Tyynismaa , Bjarne Udd , Alistair R R Forrest , Mark R Davis , Drago Bratkovic , Nicholas Manton , Thomas Robertson , Cullen O'Gorman , Pamela McCombe , Nigel G Laing , Liza Phillips , Pascale de Lonlay , Gianina Ravenscroft

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy.

Frontiers in neurology

Avec: Julius Järvilehto , Sandra Harjuhaahto , Edouard Palu , Mari Auranen , Jouni Kvist , Henrik Zetterberg , Johanna Koskivuori , Marko Lehtonen , Anna Maija Saukkonen , Manu Jokela , Emil Ylikallio , Henna Tyynismaa

Lactate and ammonia measurements during cardiopulmonary exercise testing and its recovery phase-Consideration of age and sex in its interpretation.

Clinical physiology and functional imaging

Avec: Nadja Ratia , Hanna Lantto , Emmi Rotgers , Vesa-Petteri Kouri , Mari Auranen , Ritva Luukkonen , Päivi Piirilä

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy.

Muscle & nerve

Avec: Kristin Samuelsson , Ana Radovic , Rayomand Press , Mari Auranen , Emil Ylikallio , Henna Tyynismaa , Mikko KäRppä , Matilda Veteläinen , Niina Peltola , Svein Ivar Mellgren , Åse Mygland , Chantal Tallaksen , Henning Andersen , Astrid Juhl Terkelsen , Freja Fontain , Aki Hietaharju

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.

Neuromuscular disorders : NMD

Avec: Carina Wallgren-Pettersson , Manu Jokela , Vilma-Lotta Lehtokari , Henna Tyynismaa , Markus T Sainio , Emil Ylikallio , Olli Tynninen , Katarina Pelin , Mari Auranen

Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease.

Frontiers in neurology

Avec: Nadja Ratia , Edouard Palu , Hanna Lantto , Emil Ylikallio , Ritva Luukkonen , Anu Suomalainen , Mari Auranen , Päivi Piirilä

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

Journal of inherited metabolic disease

Avec: Jenni M Lehtonen , Mari Auranen , Niklas Darin , Kalliopi Sofou , Laurence Bindoff , Omar Hikmat , Johanna Uusimaa , Päivi Vieira , Már Tulinius , Tuula Lönnqvist , Irenaeus F de Coo , Anu Suomalainen , Pirjo Isohanni

Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.

Annals of clinical and translational neurology

Avec: Julius Rönkkö , Svetlana Molchanova , Anya Revah-Politi , Elaine M Pereira , Mari Auranen , Jussi Toppila , Jouni Kvist , Anastasia Ludwig , Julika Neumann , Geert Bultynck , Stéphanie Humblet-Baron , Adrian Liston , Anders Paetau , Claudio Rivera , Matthew B Harms , Henna Tyynismaa , Emil Ylikallio

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.

Acta neuropathologica communications

Avec: Natasha Ranu , Jenni Laitila , Hannah F Dugdale , Jennifer Mariano , Justin S Kolb , Carina Wallgren-Pettersson , Nanna Witting , John Vissing , Juan Jesus Vilchez , Chiara Fiorillo , Edmar Zanoteli , Mari Auranen , Manu Jokela , Giorgio Tasca , Kristl G Claeys , Nicol C Voermans , Johanna Palmio , Sanna Huovinen , Maurizio Moggio , Thomas Nyegaard Beck , Aikaterini Kontrogianni-Konstantopoulos , Henk Granzier , Julien Ochala

Attitudes towards genetic testing and information: does parenthood shape the views?

Journal of community genetics

Avec: Antti Saastamoinen , Virva Hyttinen , Mika Kortelainen , Juho Aaltio , Mari Auranen , Emil Ylikallio , Tuula Lönnqvist , Markus Sainio , Anu Suomalainen , Henna Tyynismaa , Pirjo Isohanni

Niacin Cures Systemic NAD

Cell metabolism

Avec: Eija Pirinen , Mari Auranen , Nahid A Khan , Virginia Brilhante , Niina Urho , Alberto Pessia , Antti Hakkarainen , Juho Kuula , Ulla Heinonen , Mark S Schmidt , Kimmo Haimilahti , Päivi Piirilä , Nina Lundbom , Marja-Riitta Taskinen , Charles Brenner , Vidya Velagapudi , Kirsi H Pietiläinen , Anu Suomalainen

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Journal of neurology

Avec: Markus T Sainio , Salla Välipakka , Bruno Rinaldi , Helena Lapatto , Anders Paetau , Simo Ojanen , Virginia Brilhante , Manu Jokela , Sanna Huovinen , Mari Auranen , Johanna Palmio , Sylvie Friant , Emil Ylikallio , Bjarne Udd , Henna Tyynismaa

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.

Human molecular genetics

Avec: Sebastian Kenvin , Ruben Torregrosa-Muñumer , Marco Reidelbach , Jana Pennonen , Jeremi J Turkia , Erika Rannila , Jouni Kvist , Markus T Sainio , Nadine Huber , Sanna-Kaisa Herukka , Annakaisa Haapasalo , Mari Auranen , Ras Trokovic , Vivek Sharma , Emil Ylikallio , Henna Tyynismaa

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.

European journal of human genetics : EJHG

Avec: Anna Kuukasjärvi , Juan C Landoni , Jyrki Kaukonen , Mika Juhakoski , Mari Auranen , Tommi Torkkeli , Vidya Velagapudi , Anu Suomalainen

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the

Neurology. Genetics

Avec: Peter Hackman , Salla M Rusanen , Mridul Johari , Anna Vihola , Per Harald Jonson , Jaakko Sarparanta , Kati Donner , Päivi Lahermo , Sampo Koivunen , Helena Luque , Merja Soininen , Ibrahim Mahjneh , Mari Auranen , Meharji Arumilli , Marco Savarese , Bjarne Udd

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.

Neurogenetics

Avec: Edouard Palu , Julius Järvilehto , Jana Pennonen , Nadine Huber , Sanna-Kaisa Herukka , Annakaisa Haapasalo , Pirjo Isohanni , Henna Tyynismaa , Mari Auranen , Emil Ylikallio

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions.

Cell metabolism

Avec: Saara Forsström , Christopher B Jackson , Christopher J Carroll , Mervi Kuronen , Eija Pirinen , Swagat Pradhan , Anastasiia Marmyleva , Mari Auranen , Iida-Marja Kleine , Nahid A Khan , Anne Roivainen , Päivi Marjamäki , Heidi Liljenbäck , Liya Wang , Brendan J Battersby , Uwe Richter , Vidya Velagapudi , Joni Nikkanen , Liliya Euro , Anu Suomalainen

Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders.

Acta neurologica Scandinavica

Avec: Markus T Sainio , Juho Aaltio , Virva Hyttinen , Mika Kortelainen , Simo Ojanen , Anders Paetau , Pentti Tienari , Emil Ylikallio , Mari Auranen , Henna Tyynismaa

Homozygosity of a Founder Variant c.1508dupC in

Neurology. Genetics

Avec: Johanna Palmio , Panu Kiviranta , Päivi H Hartikainen , Pirjo Isohanni , Mari Auranen , Karoliina Videman , Sini Penttilä , Sara Lehtinen , Jarkko Kirjavainen , Susanna Hintikka , Katriina Paloviita , Janna Saarela , Bjarne Udd

Réseau de co-auteurs

Emil Ylikallio 11 collaborations

Henna Tyynismaa 10 collaborations

Anu Suomalainen 6 collaborations

Manu Jokela 5 collaborations

Bjarne Udd 4 collaborations

Markus T Sainio 4 collaborations

Pirjo Isohanni 4 collaborations

Edouard Palu 3 collaborations

Jouni Kvist 3 collaborations

Päivi Piirilä 3 collaborations

Anders Paetau 3 collaborations

Johanna Palmio 3 collaborations

Vidya Velagapudi 3 collaborations

Marco Savarese 2 collaborations

Anna Vihola 2 collaborations

Mridul Johari 2 collaborations

Julius Järvilehto 2 collaborations

Nadja Ratia 2 collaborations

Hanna Lantto 2 collaborations

Ritva Luukkonen 2 collaborations

Carina Wallgren-Pettersson 2 collaborations

Tuula Lönnqvist 2 collaborations

Sanna Huovinen 2 collaborations

Virva Hyttinen 2 collaborations

Mika Kortelainen 2 collaborations

Juho Aaltio 2 collaborations

Eija Pirinen 2 collaborations

Nahid A Khan 2 collaborations

Virginia Brilhante 2 collaborations

Simo Ojanen 2 collaborations

Jana Pennonen 2 collaborations

Nadine Huber 2 collaborations

Sanna-Kaisa Herukka 2 collaborations

Annakaisa Haapasalo 2 collaborations

Macarena Cabrera-Serrano 1 collaboration

Laure Caccavelli 1 collaboration

Thierry Capiod 1 collaboration

Marine Madrange 1 collaboration

Enrico Bugiardini 1 collaboration

Stefen Brady 1 collaboration

Rosaline Quinlivan 1 collaboration

Ashirwad Merve 1 collaboration

Renata Scalco 1 collaboration

David Hilton-Jones 1 collaboration

Henry Houlden 1 collaboration

Halil Ibrahim Aydin 1 collaboration

Serdar Ceylaner 1 collaboration

Sarah Drewes 1 collaboration

Jerry Vockley 1 collaboration

Rhonda L Taylor 1 collaboration

Chiara Folland 1 collaboration

Aasta Kelly 1 collaboration

Hayley Goullee 1 collaboration

Alistair R R Forrest 1 collaboration

Mark R Davis 1 collaboration

Drago Bratkovic 1 collaboration

Nicholas Manton 1 collaboration

Thomas Robertson 1 collaboration

Cullen O'Gorman 1 collaboration

Pamela McCombe 1 collaboration

Nigel G Laing 1 collaboration

Liza Phillips 1 collaboration

Pascale de Lonlay 1 collaboration

Gianina Ravenscroft 1 collaboration

Sandra Harjuhaahto 1 collaboration

Henrik Zetterberg 1 collaboration

Johanna Koskivuori 1 collaboration

Marko Lehtonen 1 collaboration

Anna Maija Saukkonen 1 collaboration

Emmi Rotgers 1 collaboration

Vesa-Petteri Kouri 1 collaboration

Kristin Samuelsson 1 collaboration

Ana Radovic 1 collaboration

Rayomand Press 1 collaboration

Mikko KäRppä 1 collaboration

Matilda Veteläinen 1 collaboration

Niina Peltola 1 collaboration

Svein Ivar Mellgren 1 collaboration

Åse Mygland 1 collaboration

Chantal Tallaksen 1 collaboration

Henning Andersen 1 collaboration

Astrid Juhl Terkelsen 1 collaboration

Freja Fontain 1 collaboration

Aki Hietaharju 1 collaboration

Vilma-Lotta Lehtokari 1 collaboration

Olli Tynninen 1 collaboration

Katarina Pelin 1 collaboration

Jenni M Lehtonen 1 collaboration

Niklas Darin 1 collaboration

Kalliopi Sofou 1 collaboration

Laurence Bindoff 1 collaboration

Omar Hikmat 1 collaboration

Johanna Uusimaa 1 collaboration

Päivi Vieira 1 collaboration

Már Tulinius 1 collaboration

Irenaeus F de Coo 1 collaboration

Julius Rönkkö 1 collaboration

Svetlana Molchanova 1 collaboration

Anya Revah-Politi 1 collaboration

Elaine M Pereira 1 collaboration

Jussi Toppila 1 collaboration

Anastasia Ludwig 1 collaboration

Julika Neumann 1 collaboration

Geert Bultynck 1 collaboration

Stéphanie Humblet-Baron 1 collaboration

Adrian Liston 1 collaboration

Claudio Rivera 1 collaboration

Matthew B Harms 1 collaboration

Natasha Ranu 1 collaboration

Jenni Laitila 1 collaboration

Hannah F Dugdale 1 collaboration

Jennifer Mariano 1 collaboration

Justin S Kolb 1 collaboration

Nanna Witting 1 collaboration

John Vissing 1 collaboration

Juan Jesus Vilchez 1 collaboration

Chiara Fiorillo 1 collaboration

Edmar Zanoteli 1 collaboration

Giorgio Tasca 1 collaboration

Kristl G Claeys 1 collaboration

Nicol C Voermans 1 collaboration

Maurizio Moggio 1 collaboration

Thomas Nyegaard Beck 1 collaboration

Aikaterini Kontrogianni-Konstantopoulos 1 collaboration

Henk Granzier 1 collaboration

Julien Ochala 1 collaboration

Antti Saastamoinen 1 collaboration

Markus Sainio 1 collaboration

Niina Urho 1 collaboration

Alberto Pessia 1 collaboration

Antti Hakkarainen 1 collaboration

Juho Kuula 1 collaboration

Ulla Heinonen 1 collaboration

Mark S Schmidt 1 collaboration

Kimmo Haimilahti 1 collaboration

Nina Lundbom 1 collaboration

Marja-Riitta Taskinen 1 collaboration

Charles Brenner 1 collaboration

Kirsi H Pietiläinen 1 collaboration

Salla Välipakka 1 collaboration

Bruno Rinaldi 1 collaboration

Helena Lapatto 1 collaboration

Sylvie Friant 1 collaboration

Sebastian Kenvin 1 collaboration

Ruben Torregrosa-Muñumer 1 collaboration

Marco Reidelbach 1 collaboration

Jeremi J Turkia 1 collaboration

Erika Rannila 1 collaboration

Ras Trokovic 1 collaboration

Vivek Sharma 1 collaboration

Anna Kuukasjärvi 1 collaboration

Juan C Landoni 1 collaboration

Jyrki Kaukonen 1 collaboration

Mika Juhakoski 1 collaboration

Tommi Torkkeli 1 collaboration

Peter Hackman 1 collaboration

Salla M Rusanen 1 collaboration

Per Harald Jonson 1 collaboration

Jaakko Sarparanta 1 collaboration

Kati Donner 1 collaboration

Päivi Lahermo 1 collaboration

Sampo Koivunen 1 collaboration

Helena Luque 1 collaboration

Merja Soininen 1 collaboration

Ibrahim Mahjneh 1 collaboration

Meharji Arumilli 1 collaboration

Saara Forsström 1 collaboration

Christopher B Jackson 1 collaboration

Christopher J Carroll 1 collaboration

Mervi Kuronen 1 collaboration

Swagat Pradhan 1 collaboration

Anastasiia Marmyleva 1 collaboration

Iida-Marja Kleine 1 collaboration

Anne Roivainen 1 collaboration

Päivi Marjamäki 1 collaboration

Heidi Liljenbäck 1 collaboration

Liya Wang 1 collaboration

Brendan J Battersby 1 collaboration

Uwe Richter 1 collaboration

Joni Nikkanen 1 collaboration

Liliya Euro 1 collaboration

Pentti Tienari 1 collaboration

Panu Kiviranta 1 collaboration

Päivi H Hartikainen 1 collaboration

Karoliina Videman 1 collaboration

Sini Penttilä 1 collaboration

Sara Lehtinen 1 collaboration

Jarkko Kirjavainen 1 collaboration

Susanna Hintikka 1 collaboration

Katriina Paloviita 1 collaboration

Janna Saarela 1 collaboration