Publications by authors named "Tiina Tyni"

26Publications

Moyamoya angiopathy: radiological follow-up findings in Finnish patients.

J Neurol 2020 Aug 22;267(8):2301-2306. Epub 2020 Apr 22.

Department of Clinical Neurosciences, Institute of Neuroscience and Physiology, Department of Neurology, Sahlgrenska Academy at University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://dx.doi.org/10.1007/s00415-020-09837-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358936PMC
August 2020

Moyamoya angiopathy: long-term follow-up study in a Finnish population.

J Neurol 2019 Mar 17;266(3):574-581. Epub 2018 Dec 17.

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

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http://dx.doi.org/10.1007/s00415-018-9154-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394807PMC
March 2019

Genetic Basis of Severe Childhood-Onset Cardiomyopathies.

J Am Coll Cardiol 2018 11;72(19):2324-2338

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland; Department of Neurology, Helsinki University Hospital and Clinical Neurosciences, University of Helsinki, Helsinki, Finland; Neuroscience Center, HiLife, University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2018.08.2171DOI Listing
November 2018

Moyamoya vasculopathy - Patient demographics and characteristics in the Finnish population.

Int J Stroke 2017 01 24;12(1):90-95. Epub 2016 Sep 24.

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

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http://dx.doi.org/10.1177/1747493016669847DOI Listing
January 2017

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

Am J Med Genet A 2016 06 17;170(6):1433-8. Epub 2016 Feb 17.

Department of Pediatric Cardiology, Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.37596DOI Listing
June 2016

Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Acta Paediatr 2016 May 5;105(5):549-54. Epub 2016 Feb 5.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1111/apa.13313DOI Listing
May 2016

Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.

Eur J Paediatr Neurol 2016 01 14;20(1):38-44. Epub 2015 Nov 14.

Department of Clinical Neurophysiology, Children's Hospital, University of Helsinki, HUS Medical Imaging Center, Finland.

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http://dx.doi.org/10.1016/j.ejpn.2015.10.009DOI Listing
January 2016

Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.

Eur J Pediatr 2015 Dec 13;174(12):1689-92. Epub 2015 Jun 13.

Department on Pediatrics, Children's Hospital, University Hospital of Helsinki, Stenbackinkatu 11, PL 281, 00029 HUS, Helsinki, Finland.

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http://dx.doi.org/10.1007/s00431-015-2574-9DOI Listing
December 2015

Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Invest Ophthalmol Vis Sci 2015 May;56(5):3371-82

Research Program of Molecular Neurology, Biomedicum 1, University of Helsinki, Helsinki, Finland 5Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1167/iovs.14-14007DOI Listing
May 2015

Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations.

Brain Dev 2015 Jan 7;37(1):107-13. Epub 2014 Mar 7.

Research Program of Molecular Neurology, Biomedicum 1, University of Helsinki, Helsinki, Finland; Children Hospital, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.braindev.2014.02.001DOI Listing
January 2015

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.

Pediatr Res 2012 Oct 13;72(4):432-7. Epub 2012 Jul 13.

Department of Pediatric Cardiology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1038/pr.2012.92DOI Listing
October 2012

Refined staging for chorioretinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.

Ophthalmic Res 2012 ;48(2):75-81

Department of Pediatric Neurology and Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1159/000334874DOI Listing
August 2012

Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.

J Pediatr 2012 Mar 29;160(3):473-479.e1. Epub 2011 Sep 29.

Molecular Neurology Research Programs Unit, Department of Pediatric Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.jpeds.2011.08.032DOI Listing
March 2012

Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication?

Mol Genet Metab 2010 Jun 16;100(2):204-6. Epub 2010 Mar 16.

Department of Pediatric Neurology, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.ymgme.2010.03.006DOI Listing
June 2010

Carnitine palmitoyltransferase I and Acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects.

Invest Ophthalmol Vis Sci 2008 Apr;49(4):1660-4

Department of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki University Central Hospital, Helinski, Finland

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http://dx.doi.org/10.1167/iovs.07-1094DOI Listing
April 2008

Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Pediatr Res 2004 Nov 3;56(5):744-50. Epub 2004 Sep 3.

Department of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki University Central Hospital, 00029 HUS, Helsinki, Finland.

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http://www.nature.com/doifinder/10.1203/01.PDR.0000141967.52
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http://dx.doi.org/10.1203/01.PDR.0000141967.52759.83DOI Listing
November 2004

Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium.

Pediatr Res 2002 Oct;52(4):595-600

Department of Neurology, University of Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1203/00006450-200210000-00021DOI Listing
October 2002

[Metabolic crisis in an infant--is the problem in the mitochondria?].

Duodecim 2002 ;118(13):1331-9

Lastenneurologian klinikka HUS:n lasten ja nuorten sairaala PL 280, 00029 HUS.

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November 2002