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28 results for Isohanni,+Pirjo

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SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease
Author / Creator:Gut, Philipp ; Matilainen, Sanna ; Meyer, Jesse G. ; Pällijeff, Pieti ; Richard, Joy ; Carroll, Christopher J. ; Euro, Liliya ; Jackson, Christopher B. ; Isohanni, Pirjo ; Minassian, Berge A. ; Alkhater, Reem A. ; Østergaard, Elsebet ; Civiletto, Gabriele ; Parisi, Alice ; Thevenet, Jonathan ; Rardin, Matthew J. ; He, Wenjuan ; Nishida, Yuya ; Newman, John C. ; Liu, Xiaojing ; Christen, Stefan ; Moco, Sofia ; Locasale, Jason W. ; Schilling, Birgit ; Suomalainen, Anu ; Verdin, Eric
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-11, Vol.11 (1), p.5927-5927, Article 5927
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Vegan diet in young children remodels metabolism and challenges the statuses of essential nutrients
Author / Creator:Hovinen, Topi ; Korkalo, Liisa ; Freese, Riitta ; Skaffari, Essi ; Isohanni, Pirjo ; Niemi, Mikko ; Nevalainen, Jaakko ; Gylling, Helena ; Zamboni, Nicola ; Erkkola, Maijaliisa ; Suomalainen, Anu
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2021-02, Vol.13 (2), p.e13492-n/a
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A multicenter study on Leigh syndrome: disease course and predictors of survival
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.52-52
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Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
Author / Creator:Ylikallio, Emil ; Kim, Doyoun ; Isohanni, Pirjo ; Auranen, Mari ; Kim, Eunjoon ; Lönnqvist, Tuula ; Tyynismaa, Henna
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1427-1430
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Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2016-11, Vol.8 (11), p.1234-1247
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Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy
Author / Creator:Vasilescu, Catalina ; Isohanni, Pirjo ; Palomäki, Maarit ; Pihko, Helena ; Suomalainen, Anu ; Carroll, Christopher J
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-02, Vol.25 (3), p.366-370
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Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion
Author / Creator:Matilainen, Sanna ; Isohanni, Pirjo ; Euro, Liliya ; Lönnqvist, Tuula ; Pihko, Helena ; Kivelä, Tero ; Knuutila, Sakari ; Suomalainen, Anu
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.325-330
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A complex genomic locus drives mtDNA replicase POLG expression to its disease‐related nervous system regions
Author / Creator:Nikkanen, Joni ; Landoni, Juan Cruz ; Balboa, Diego ; Haugas, Maarja ; Partanen, Juha ; Paetau, Anders ; Isohanni, Pirjo ; Brilhante, Virginia ; Suomalainen, Anu
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2018-01, Vol.10 (1), p.13-21
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Using urine to diagnose large‐scale mtDNA deletions in adult patients
Author / Creator:Varhaug, Kristin N. ; Nido, Gonzalo S. ; Coo, Irenaeus ; Isohanni, Pirjo ; Suomalainen, Anu ; Tzoulis, Charalampos ; Knappskog, Per ; Bindoff, Laurence A.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-08, Vol.7 (8), p.1318-1326
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Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
Author / Creator:Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki ; Ferla, Matteo P. ; Fassone, Elisa ; Abbott, Mary‐Alice ; Bellusci, Marcello ; Darin, Niklas ; Dimmock, David ; Ghezzi, Daniele ; Houlden, Henry ; Invernizzi, Federica ; Kamarus Jaman, Nazreen B. ; Kurian, Manju A. ; Morava, Eva ; Naess, Karin ; Ortigoza‐Escobar, Juan Darío ; Parikh, Sumit ; Pennisi, Alessandra ; Barcia, Giulia ; Tylleskär, Karin B. ; Brackman, Damien ; Wortmann, Saskia B. ; Taylor, Jenny C. ; Bindoff, Laurence A. ; Fellman, Vineta ; Rahman, Shamima
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2021-11, Vol.8 (11), p.2155-2165
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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
Author / Creator:Suomalainen, Anu, Prof ; Elo, Jenni M, MB ; Pietiläinen, Kirsi H, MD ; Hakonen, Anna H, MD ; Sevastianova, Ksenia, MD ; Korpela, Mari, MD ; Isohanni, Pirjo, MD ; Marjavaara, Sanna K, PhD ; Tyni, Tiina, MD ; Kiuru-Enari, Sari, MD ; Pihko, Helena, Prof ; Darin, Niklas, MD ; Õunap, Katrin, MD ; Kluijtmans, Leo AJ, MD ; Paetau, Anders, MD ; Buzkova, Jana, MSc ; Bindoff, Laurence A, Prof ; Annunen-Rasila, Johanna, MD ; Uusimaa, Johanna, MD ; Rissanen, Aila, Prof ; Yki-Järvinen, Hannele, Prof ; Hirano, Michio, MD ; Tulinius, Mar, Prof ; Smeitink, Jan, Prof ; Tyynismaa, Henna, PhD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2011-09, Vol.10 (9), p.806-818
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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
Author / Creator:Parasyri, Maria ; Brandström, Per ; Uusimaa, Johanna ; Ostergaard, Elsebet ; Hikmat, Omar ; Isohanni, Pirjo ; Naess, Karin ; de Coo, I.F.M. ; Nascimento Osorio, Andrés ; Nuutinen, Matti ; Lindberg, Christopher ; Bindoff, Laurence A. ; Tulinius, Már ; Darin, Niklas ; Sofou, Kalliopi
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Kidney diseases, 2022-01, Vol.8 (2), p.148-159
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The impact of gender, puberty, and pregnancy in patients with POLG disease
Author / Creator:Hikmat, Omar ; Naess, Karin ; Engvall, Martin ; Klingenberg, Claus ; Rasmussen, Magnhild ; Tallaksen, Chantal M. E. ; Samsonsen, Christian ; Brodtkorb, Eylert ; Ostergaard, Elsebet ; de Coo, Rene ; Pias‐Peleteiro, Leticia ; Isohanni, Pirjo ; Uusimaa, Johanna ; Darin, Niklas ; Rahman, Shamima ; Bindoff, Laurence A.
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-10, Vol.7 (10), p.2019-2025
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Genetic etiology of progressive pediatric neurological disorders
Author / Creator:Aaltio, Juho ; Etula, Anna ; Ojanen, Simo ; Brilhante, Virginia ; Lönnqvist, Tuula ; Isohanni, Pirjo ; Suomalainen, Anu
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2024-01, Vol.95 (1), p.102-111
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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
Author / Creator: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
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-01, Vol.55 (1), p.21-27
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Retrospective natural history of thymidine kinase 2 deficiency
Author / Creator:Garone, Caterina ; Taylor, Robert W ; Nascimento, Andrés ; Poulton, Joanna ; Fratter, Carl ; Domínguez-González, Cristina ; Evans, Julie C ; Loos, Mariana ; Isohanni, Pirjo ; Suomalainen, Anu ; Ram, Dipak ; Hughes, M Imelda ; McFarland, Robert ; Barca, Emanuele ; Lopez Gomez, Carlos ; Jayawant, Sandeep ; Thomas, Neil D ; Manzur, Adnan Y ; Kleinsteuber, Karin ; Martin, Miguel A ; Kerr, Timothy ; Gorman, Grainne S ; Sommerville, Ewen W ; Chinnery, Patrick F ; Hofer, Monika ; Karch, Christoph ; Ralph, Jeffrey ; Cámara, Yolanda ; Madruga-Garrido, Marcos ; Domínguez-Carral, Jana ; Ortez, Carlos ; Emperador, Sonia ; Montoya, Julio ; Chakrapani, Anupam ; Kriger, Joshua F ; Schoenaker, Robert ; Levin, Bruce ; Thompson, John L P ; Long, Yuelin ; Rahman, Shamima ; Donati, Maria Alice ; DiMauro, Salvatore ; Hirano, Michio
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-08, Vol.55 (8), p.515-521
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Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Author / Creator:Palu, Edouard ; Järvilehto, Julius ; Pennonen, Jana ; Huber, Nadine ; Herukka, Sanna-Kaisa ; Haapasalo, Annakaisa ; Isohanni, Pirjo ; Tyynismaa, Henna ; Auranen, Mari ; Ylikallio, Emil
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2023-10, Vol.24 (4), p.291-301
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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Author / Creator:Björkman, Kristoffer ; Vissing, John ; Østergaard, Elsebet ; Bindoff, Laurence A ; de Coo, Irenaeus F M ; Engvall, Martin ; Hikmat, Omar ; Isohanni, Pirjo ; Kollberg, Gittan ; Lindberg, Christopher ; Majamaa, Kari ; Naess, Karin ; Uusimaa, Johanna ; Tulinius, Mar ; Darin, Niklas
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-01, Vol.60 (1), p.65-73
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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
Author / Creator:Carroll, Christopher J ; Isohanni, Pirjo ; Pöyhönen, Rosanna ; Euro, Liliya ; Richter, Uwe ; Brilhante, Virginia ; Götz, Alexandra ; Lahtinen, Taina ; Paetau, Anders ; Pihko, Helena ; Battersby, Brendan J ; Tyynismaa, Henna ; Suomalainen, Anu
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-03, Vol.50 (3), p.151-159
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Author / Creator:Reijnders, Margot R F ; Janowski, Robert ; Alvi, Mohsan ; Self, Jay E ; van Essen, Ton J ; Vreeburg, Maaike ; Rouhl, Rob P W ; Stevens, Servi J C ; Stegmann, Alexander P A ; Schieving, Jolanda ; Pfundt, Rolph ; van Dijk, Katinke ; Smeets, Eric ; Stumpel, Connie T R M ; Bok, Levinus A ; Cobben, Jan Maarten ; Engelen, Marc ; Mansour, Sahar ; Whiteford, Margo ; Chandler, Kate E ; Douzgou, Sofia ; Cooper, Nicola S ; Tan, Ene-Choo ; Foo, Roger ; Lai, Angeline H M ; Rankin, Julia ; Green, Andrew ; Lönnqvist, Tuula ; Isohanni, Pirjo ; Williams, Shelley ; Ruhoy, Ilene ; Carvalho, Karen S ; Dowling, James J ; Lev, Dorit L ; Sterbova, Katalin ; Lassuthova, Petra ; Neupauerová, Jana ; Waugh, Jeff L ; Keros, Sotirios ; Clayton-Smith, Jill ; Smithson, Sarah F ; Brunner, Han G ; van Hoeckel, Ceciel ; Anderson, Mel ; Clowes, Virginia E ; Siu, Victoria Mok ; DDD study, The ; Selber, Paulo ; Leventer, Richard J ; Nellaker, Christoffer ; Niessing, Dierk ; Hunt, David ; Baralle, Diana
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2018-02, Vol.55 (2), p.104-113
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Showing 1 to 20 of 28 results

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SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

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Vegan diet in young children remodels metabolism and challenges the statuses of essential nutrients

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A multicenter study on Leigh syndrome: disease course and predictors of survival

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Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

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Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients

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Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy

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Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion

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A complex genomic locus drives mtDNA replicase POLG expression to its disease‐related nervous system regions

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Using urine to diagnose large‐scale mtDNA deletions in adult patients

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Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

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The impact of gender, puberty, and pregnancy in patients with POLG disease

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Genetic etiology of progressive pediatric neurological disorders

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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

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Retrospective natural history of thymidine kinase 2 deficiency

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

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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

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