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Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients.
Published in:
EMBO Molecular Medicine, 2016, v. 8, n. 11, p. 1234, doi. 10.15252/emmm.201606592
By:
- Ahola, Sofia;
- Auranen, Mari;
- Isohanni, Pirjo;
- Niemisalo, Satu;
- Urho, Niina;
- Buzkova, Jana;
- Velagapudi, Vidya;
- Lundbom, Nina;
- Hakkarainen, Antti;
- Muurinen, Tiina;
- Piirilä, Päivi;
- Pietiläinen, Kirsi H;
- Suomalainen, Anu
Publication type:
Article
Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3.
Published in:
EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 721, doi. 10.1002/emmm.201403943
By:
- Khan, Nahid A;
- Auranen, Mari;
- Paetau, Ilse;
- Pirinen, Eija;
- Euro, Liliya;
- Forsström, Saara;
- Pasila, Lotta;
- Velagapudi, Vidya;
- Carroll, Christopher J;
- Auwerx, Johan;
- Suomalainen, Anu
Publication type:
Article
De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.
Published in:
2020
By:
- Ylikallio, Emil;
- Ritari, Niina;
- Sainio, Markus;
- Toppila, Jussi;
- Kivirikko, Sirpa;
- Tyynismaa, Henna;
- Auranen, Mari;
- Isohanni, Pirjo
Publication type:
Letter
Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease.
Published in:
Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1277944
By:
- Ratia, Nadja;
- Palu, Edouard;
- Lantto, Hanna;
- Ylikallio, Emil;
- Luukkonen, Ritva;
- Suomalainen, Anu;
- Auranen, Mari;
- Piirilä, Päivi
Publication type:
Article
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy.
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.793937
By:
- Järvilehto, Julius;
- Harjuhaahto, Sandra;
- Palu, Edouard;
- Auranen, Mari;
- Kvist, Jouni;
- Zetterberg, Henrik;
- Koskivuori, Johanna;
- Lehtonen, Marko;
- Saukkonen, Anna Maija;
- Jokela, Manu;
- Ylikallio, Emil;
- Tyynismaa, Henna
Publication type:
Article
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy.
Published in:
2019
By:
- Samuelsson, Kristin;
- Radovic, Ana;
- Press, Rayomand;
- Auranen, Mari;
- Ylikallio, Emil;
- Tyynismaa, Henna;
- KäRppä, Mikko;
- Veteläinen, Matilda;
- Peltola, Niina;
- Mellgren, Svein Ivar;
- Mygland, Åse;
- Tallaksen, Chantal;
- Andersen, Henning;
- Terkelsen, Astrid Juhl;
- Fontain, Freja;
- Hietaharju, Aki
Publication type:
journal article
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1427, doi. 10.1038/ejhg.2014.297
By:
- Ylikallio, Emil;
- Kim, Doyoun;
- Isohanni, Pirjo;
- Auranen, Mari;
- Kim, Eunjoon;
- Lönnqvist, Tuula;
- Tyynismaa, Henna
Publication type:
Article
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 522, doi. 10.1038/ejhg.2013.190
By:
- Ylikallio, Emil;
- Johari, Mridul;
- Konovalova, Svetlana;
- Moilanen, Jukka S;
- Kiuru-Enari, Sari;
- Auranen, Mari;
- Pajunen, Leila;
- Tyynismaa, Henna
Publication type:
Article
Analysis of four neuroligin genes as candidates for autism.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1285, doi. 10.1038/sj.ejhg.5201474
By:
- Ylisaukko-oja, Tero;
- Rehnström, Karola;
- Auranen, Mari;
- Vanhala, Raija;
- Alen, Reija;
- Kempas, Elli;
- Ellonen, Pekka;
- Turunen, Joni A.;
- Makkonen, Ismo;
- Riikonen, Raili;
- Nieminen-von Wendt, Taina;
- von Wendt, Lennart;
- Peltonen, Leena;
- Järvelä, Irma
Publication type:
Article
Candesartan cilexitil both alone and combined to hydrochlorothiazide has no effect on metabolic parameters in hypertensive patients
Published in:
2002
By:
- Auranen, Mari;
- Mäkelä, Petri;
- Kantola, Ilkka
Publication type:
Abstract
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Published in:
Acta Neuropathologica Communications, 2022, p. 1, doi. 10.1186/s40478-022-01491-9
By:
- Ranu, Natasha;
- Laitila, Jenni;
- Dugdale, Hannah F.;
- Mariano, Jennifer;
- Kolb, Justin S.;
- Wallgren-Pettersson, Carina;
- Witting, Nanna;
- Vissing, John;
- Vilchez, Juan Jesus;
- Fiorillo, Chiara;
- Zanoteli, Edmar;
- Auranen, Mari;
- Jokela, Manu;
- Tasca, Giorgio;
- Claeys, Kristl G.;
- Voermans, Nicol C.;
- Palmio, Johanna;
- Huovinen, Sanna;
- Moggio, Maurizio;
- Beck, Thomas Nyegaard
Publication type:
Article
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
Published in:
NeuroMolecular Medicine, 2016, v. 18, n. 1, p. 81, doi. 10.1007/s12017-015-8379-1
By:
- Suriyanarayanan, Saranya;
- Auranen, Mari;
- Toppila, Jussi;
- Paetau, Anders;
- Shcherbii, Maria;
- Palin, Eino;
- Wei, Yu;
- Lohioja, Tarja;
- Schlotter-Weigel, Beate;
- Schön, Ulrike;
- Abicht, Angela;
- Rautenstrauss, Bernd;
- Tyynismaa, Henna;
- Walter, Maggie;
- Hornemann, Thorsten;
- Ylikallio, Emil
Publication type:
Article
Focal atrophy of the unilateral masticatory muscles caused by pure trigeminal motor neuropathy: case report.
Published in:
2018
By:
- Kämppi, Antti;
- Kämppi, Leena;
- Kemppainen, Pentti;
- Kanerva, Mari;
- Toppila, Jussi;
- Auranen, Mari
Publication type:
Case Study
Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 1962, doi. 10.1002/acn3.51190
By:
- Rönkkö, Julius;
- Molchanova, Svetlana;
- Revah‐Politi, Anya;
- Pereira, Elaine M.;
- Auranen, Mari;
- Toppila, Jussi;
- Kvist, Jouni;
- Ludwig, Anastasia;
- Neumann, Julika;
- Bultynck, Geert;
- Humblet‐Baron, Stéphanie;
- Liston, Adrian;
- Paetau, Anders;
- Rivera, Claudio;
- Harms, Matthew B.;
- Tyynismaa, Henna;
- Ylikallio, Emil
Publication type:
Article
Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish familiesMembers of the AGRE Consortium are listed in the Appendix on page 153.
Published in:
Annals of Neurology, 2006, v. 59, n. 1, p. 145, doi. 10.1002/ana.20722
By:
- Tero Ylisaukko‐oja;
- Maricela Alarcón;
- Rita M. Cantor;
- Mari Auranen;
- Raija Vanhala;
- Elli Kempas;
- Lennart von Wendt;
- Irma Järvelä;
- Daniel H. Geschwind;
- Leena Peltonen
Publication type:
Article
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
Published in:
Journal of Neurology, 2019, v. 266, n. 2, p. 353, doi. 10.1007/s00415-018-9137-8
By:
- Sainio, Markus T.;
- Välipakka, Salla;
- Rinaldi, Bruno;
- Lapatto, Helena;
- Paetau, Anders;
- Ojanen, Simo;
- Brilhante, Virginia;
- Jokela, Manu;
- Huovinen, Sanna;
- Auranen, Mari;
- Palmio, Johanna;
- Friant, Sylvie;
- Ylikallio, Emil;
- Udd, Bjarne;
- Tyynismaa, Henna
Publication type:
Article
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 469, doi. 10.1002/jimd.12307
By:
- Lehtonen, Jenni M.;
- Auranen, Mari;
- Darin, Niklas;
- Sofou, Kalliopi;
- Bindoff, Laurence;
- Hikmat, Omar;
- Uusimaa, Johanna;
- Vieira, Päivi;
- Tulinius, Már;
- Lönnqvist, Tuula;
- Coo, Irenaeus F.;
- Suomalainen, Anu;
- Isohanni, Pirjo
Publication type:
Article
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 6, p. 958, doi. 10.1093/hmg/ddab299
By:
- Kenvin, Sebastian;
- Torregrosa-Muñumer, Ruben;
- Reidelbach, Marco;
- Pennonen, Jana;
- Turkia, Jeremi J;
- Rannila, Erika;
- Kvist, Jouni;
- Sainio, Markus T;
- Huber, Nadine;
- Herukka, Sanna-Kaisa;
- Haapasalo, Annakaisa;
- Auranen, Mari;
- Trokovic, Ras;
- Sharma, Vivek;
- Ylikallio, Emil;
- Tyynismaa, Henna
Publication type:
Article
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 4, p. 706, doi. 10.1093/hmg/ddx436
By:
- Brockmann, Sarah J.;
- Freischmidt, Axel;
- Oeckl, Patrick;
- Müller, Kathrin;
- Ponna, Srinivas K.;
- Helferich, Anika M.;
- Paone, Christoph;
- Reinders, Jörg;
- Kojer, Kerstin;
- Orth, Michael;
- Jokela, Manu;
- Auranen, Mari;
- Udd, Bjarne;
- Hermann, Andreas;
- Danzer, Karin M.;
- Lichtner, Peter;
- Walther, Paul;
- Ludolph, Albert C.;
- Andersen, Peter M.;
- Otto, Markus
Publication type:
Article
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1432, doi. 10.1093/hmg/ddx042
By:
- Cooper, Helen M.;
- Yang Yang;
- Ylikallio, Emil;
- Khairullin, Rafil;
- Woldegebriel, Rosa;
- Kai-Lan Lin;
- Euro, Liliya;
- Palin, Eino;
- Wolf, Alexander;
- Trokovic, Ras;
- Isohanni, Pirjo;
- Kaakkola, Seppo;
- Auranen, Mari;
- Lönnqvist, Tuula;
- Wanrooij, Sjoerd;
- Tyynismaa, Henna
Publication type:
Article
Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII).
Published in:
Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00057
By:
- Similä, Minna E.;
- Auranen, Mari;
- Piirilä, Päivi Liisa
Publication type:
Article
Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders.
Published in:
Acta Neurologica Scandinavica, 2022, v. 145, n. 1, p. 63, doi. 10.1111/ane.13522
By:
- Sainio, Markus T.;
- Aaltio, Juho;
- Hyttinen, Virva;
- Kortelainen, Mika;
- Ojanen, Simo;
- Paetau, Anders;
- Tienari, Pentti;
- Ylikallio, Emil;
- Auranen, Mari;
- Tyynismaa, Henna
Publication type:
Article
Lactate and ammonia measurements during cardiopulmonary exercise testing and its recovery phase—Consideration of age and sex in its interpretation.
Published in:
Clinical Physiology & Functional Imaging, 2023, v. 43, n. 4, p. 278, doi. 10.1111/cpf.12817
By:
- Ratia, Nadja;
- Lantto, Hanna;
- Rotgers, Emmi;
- Kouri, Vesa‐Petteri;
- Auranen, Mari;
- Luukkonen, Ritva;
- Piirilä, Päivi
Publication type:
Article
Unique exercise Lactate profile in Muscle phosphofructokinase deficiency (tarui disease); difference Compared with Mcardle disease.
Published in:
Frontiers in Neurology, 2016, p. 1, doi. 10.3389/fneur.2016.00082
By:
- Piirilä, Päivi;
- Similä, Minna E.;
- Palmio, Johanna;
- Wuorimaa, Tomi;
- Ylikallio, Emil;
- Sandell, Satu;
- Haapalahti, Petri;
- Uotila, Lasse;
- Tyynismaa, Henna;
- Udd, Bjarne;
- Auranen, Mari;
- Subramony, S. H.;
- Gilchrist, James
Publication type:
Article
X-linked vacuolar myopathies: Two separate loci and refined genetic mapping.
Published in:
Annals of Neurology, 2000, v. 47, n. 5, p. 666, doi. 10.1002/1531-8249(200005)47:5<666::AID-ANA19>3.0.CO;2-N
By:
- Auranen, Mari;
- Villanova, Marcello;
- Muntoni, Francesco;
- Fardeau, Michel;
- Scherer, Stephen W.;
- Kalino, Hannu;
- Minassian, Berge A.
Publication type:
Article
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.
Published in:
Neurogenetics, 2023, v. 24, n. 4, p. 291, doi. 10.1007/s10048-023-00729-5
By:
- Palu, Edouard;
- Järvilehto, Julius;
- Pennonen, Jana;
- Huber, Nadine;
- Herukka, Sanna-Kaisa;
- Haapasalo, Annakaisa;
- Isohanni, Pirjo;
- Tyynismaa, Henna;
- Auranen, Mari;
- Ylikallio, Emil
Publication type:
Article
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
Published in:
Neurogenetics, 2013, v. 14, n. 2, p. 123, doi. 10.1007/s10048-013-0358-9
By:
- Auranen, Mari;
- Ylikallio, Emil;
- Toppila, Jussi;
- Somer, Mirja;
- Kiuru-Enari, Sari;
- Tyynismaa, Henna
Publication type:
Article
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21.
Published in:
Kidney International, 2001, v. 60, n. 4, p. 1225, doi. 10.1046/j.1523-1755.2001.00931.x
By:
- Auranen, Mari;
- Ala-Mello, Sirpa;
- Turunen, Joni A.;
- Järvelä, Irma
Publication type:
Article

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