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Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

Developmental medicine and child neurology, 2024-07

2024

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The Finnish genetic heritage in 2022 – from diagnosis to translational research

Disease models & mechanisms, 2022-10, Vol.15 (10)

2022

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Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

Developmental medicine and child neurology, 2021-09, Vol.63 (9), p.1066-1074

2021

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Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Clinical genetics, 2023-12, Vol.104 (6), p.686-693

2023

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Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction

Molecular genetics and metabolism, 2017-04, Vol.120 (4), p.337-341

2017

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TH-139. Congenital Guillain-Barré syndrome as a cause of neonatal floppiness; a case report

Clinical neurophysiology, 2022-09, Vol.141, p.S121-S122

2022

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Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings

Journal of inherited metabolic disease, 2022-03, Vol.45 (2), p.223-234

2022

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Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Journal of allergy and clinical immunology, 2021-08, Vol.148 (2), p.599-611

2021

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The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders

Movement disorders, 2022-11, Vol.37 (11), p.2197-2209

2022

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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Nature communications, 2019-01, Vol.10 (1), p.410-410, Article 410

2019

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Starting a DBS service for children: It’s not the latitude but the attitude - Establishment of the paediatric DBS centre in Northern Finland

European journal of paediatric neurology, 2022-01, Vol.36, p.107-114

2022

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Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI

Neuropediatrics, 2017-06, Vol.48 (3), p.194

2017

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

Journal of inherited metabolic disease, 2021-03, Vol.44 (2), p.469-480

2021

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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.576-583

2024

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Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

JIMD Reports, Volume 23, 2015, Vol.23, p.91-100

2015

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Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

Clinical genetics, 2020-11, Vol.98 (5), p.493-498

2020

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Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

European journal of human genetics : EJHG, 2019-08, Vol.27 (8), p.1235-1243

2019

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Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

European journal of human genetics : EJHG, 2020-04, Vol.28 (4), p.532-532

2020

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The Chicken Oocyte Receptor for Lipoprotein Deposition Recognizes α2-Macroglobulin

The Journal of biological chemistry, 1995-03, Vol.270 (12), p.6468-6475

1995

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Diagnostic value of serum biomarkersFGF21andGDF15compared to muscle sample in mitochondrial disease

Journal of inherited metabolic disease, 2021-03, Vol.44 (2), p.469

2021

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Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

The Finnish genetic heritage in 2022 – from diagnosis to translational research

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction

TH-139. Congenital Guillain-Barré syndrome as a cause of neonatal floppiness; a case report

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Starting a DBS service for children: It’s not the latitude but the attitude - Establishment of the paediatric DBS centre in Northern Finland

Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

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

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG 1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectualdisability, dysautonomia, epilepsy, and eye abnormalities (HIDEAsyndrome)

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

The Chicken Oocyte Receptor for Lipoprotein Deposition Recognizes α2-Macroglobulin

Diagnostic value of serum biomarkersFGF21andGDF15compared to muscle sample in mitochondrial disease

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