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Genetic Basis of Severe Childhood-Onset Cardiomyopathies

Journal of the American College of Cardiology, 2018-11, Vol.72 (19), p.2324-2338

2018

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

Molecular genetics and metabolism, 2010-06, Vol.100 (2), p.204-206

2010

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Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency

Investigative ophthalmology & visual science, 2014-06

2014

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Moyamoya angiopathy: radiological follow-up findings in Finnish patients

Journal of neurology, 2020-08, Vol.267 (8), p.2301-2306

2020

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Neurobiological roots of psychopathy

Molecular psychiatry, 2020-12, Vol.25 (12), p.3432-3441

2020

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

Pediatric research, 2012-10, Vol.72 (4), p.432-437

2012

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Correction: Neurobiological roots of psychopathy

Molecular psychiatry, 2020-12, Vol.25 (12), p.3455-3456

2020

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Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

American journal of human genetics, 2011-05, Vol.88 (5), p.635-642

2011

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ACAD expression and role of mitochondrial fatty acid β‐oxidation in retinal pigment epithelium

The FASEB journal, 2012-04, Vol.26 (S1)

2012

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

Brain & development (Tokyo. 1979), 2015-01, Vol.37 (1), p.107-113

2015

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

European journal of pediatrics, 2015-12, Vol.174 (12), p.1689-1692

2015

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

Journal of neurology, 2019-03, Vol.266 (3), p.574-581

2019

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

Acta Paediatrica, 2016-05, Vol.105 (5), p.549-554

2016

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

Investigative ophthalmology & visual science, 2015-05, Vol.56 (5), p.3371-3382

2015

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

European journal of paediatric neurology, 2016-01, Vol.20 (1), p.38-44

2016

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Moyamoya vasculopathy – Patient demographics and characteristics in the Finnish population

International journal of stroke, 2017-01, Vol.12 (1), p.90-95

2017

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Erratum to “Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency – A follow-up EMG study of 12 patients” [Eur J Paediatr Neuro 20 (2016) 38–44]

European journal of paediatric neurology, 2019-01, Vol.23 (1), p.228-228

2019

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

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1433-1438

2016

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Carnitine Palmitoyltransferase I and Acyl-CoA Dehydrogenase 9 in Retina: Insights of Retinopathy in Mitochondrial Trifunctional Protein Defects

Investigative ophthalmology & visual science, 2008-04, Vol.49 (4), p.1660-1664

2008

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Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

American journal of obstetrics and gynecology, 1998-03, Vol.178 (3), p.603-608

1998

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LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Human mutation, 2015-07, Vol.36 (7), p.694-703

2015

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Flavin-sensitive variant FAD synthases underlying riboflavin responsive Multiple Acyl-CoA Dehydrogenation Deficiency

Biochimica et biophysica acta. Bioenergetics, 2016-08, Vol.1857, p.e97-e97

2016

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Protein mislocalization and long-term follow-up of a patient with malonyl-CoA decarboxylase deficiency

Mitochondrion, 2011-07, Vol.11 (4), p.639

2011

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

Pediatric research, 2004-11, Vol.56 (5), p.744-750

2004

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Genetic Basis of Severe Childhood-Onset Cardiomyopathies

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

Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency

Moyamoya angiopathy: radiological follow-up findings in Finnish patients

Neurobiological roots of psychopathy

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

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

Correction: Neurobiological roots of psychopathy

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

ACAD expression and role of mitochondrial fatty acid β‐oxidation in retinal pigment epithelium

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

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

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

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

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

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

Moyamoya vasculopathy – Patient demographics and characteristics in the Finnish population

Erratum to “Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency – A follow-up EMG study of 12 patients” [Eur J Paediatr Neuro 20 (2016) 38–44]

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

Carnitine Palmitoyltransferase I and Acyl-CoA Dehydrogenase 9 in Retina: Insights of Retinopathy in Mitochondrial Trifunctional Protein Defects

Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Flavin-sensitive variant FAD synthases underlying riboflavin responsive Multiple Acyl-CoA Dehydrogenation Deficiency

Protein mislocalization and long-term follow-up of a patient with malonyl-CoA decarboxylase deficiency

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

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