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Overweight and obesity impair left ventricular systolic function as measured by left ventricular ejection fraction and global longitudinal strain

Cardiovascular diabetology, 2018-08, Vol.17 (1), p.113-113, Article 113

2018

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Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

American journal of human genetics, 2011-10, Vol.89 (4), p.507-515

2011

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Elevated plasma phospholipid n-3 docosapentaenoic acid concentrations during hibernation

PloS one, 2023-06, Vol.18 (6), p.e0285782

2023

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Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

BMC genomics, 2014-12, Vol.15 (1), p.1090-1090

2014

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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Frontiers in neurology, 2023, Vol.14, p.1170005-1170005

2023

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Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

Frontiers in neurology, 2021-03, Vol.12, p.652590

2021

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Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

International journal of neonatal screening, 2020-06, Vol.6 (2), p.42-42

2020

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

Annals of clinical and translational neurology, 2020-10, Vol.7 (10), p.2019-2025

2020

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Gunnar Jungner and the Principles and Practice of Screening for Disease

International journal of neonatal screening, 2017-08, Vol.3 (3), p.23

2017

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The ganglion cell complex thickness and visual function in leber hereditary optic neuropathy

Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279), p.n/a

2024

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Comment to: “SCA4 Unravelled After More than 25Years Using Advanced Genomic Technologies”

Movement disorders, 2024-06, Vol.39 (6), p.1077-1077

2024

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Comment to: “SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies”

Movement disorders, 2024-06, Vol.39 (6), p.1077-1077

2024

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A novel nutritional approach to infants and children with congenital diarrhea due to homozygous DGAT1 mutations

Journal of pediatric gastroenterology and nutrition, 2024-08, Vol.79 (2), p.250-258

2024

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Novel findings in a Swedish primary familial brain calcification cohort

Journal of the neurological sciences, 2024-05, Vol.460, p.123020-123020, Article 123020

2024

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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Journal of inherited metabolic disease, 2020-07, Vol.43 (4), p.726-736

2020

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Identification of Disease Genes in Rare Neurological Conditions

Engvall, Martin

2021

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Left ventricular diastolic function, assessed by echocardiography and tissue Doppler imaging, is a strong predictor of cardiovascular events, superior to global left ventricular longitudinal strain, in patients with type 2 diabetes

European heart journal cardiovascular imaging, 2015-09, Vol.16 (9), p.1000-1007

2015

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Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

Journal of internal medicine, 2024-09, Vol.296 (3), p.234-248

2024

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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Journal of medical genetics, 2015-11, Vol.52 (11), p.779-783

2015

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Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain

The Journal of pediatrics, 2021-01, Vol.228, p.240-251.e2

2021

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

Journal of medical genetics, 2023-01, Vol.60 (1), p.65

2023

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Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier: Case Report and Review of the Literature

Neurology. Genetics, 2023-08, Vol.9 (4), p.e200081-e200081

2023

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Status epilepticus in POLG disease: a large multinational study

Journal of neurology, 2024, Vol.271 (8), p.5156-5164

2024

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Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

American journal of human genetics, 2017-12, Vol.101 (6), p.965-976

2017

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Overweight and obesity impair left ventricular systolic function as measured by left ventricular ejection fraction and global longitudinal strain

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Elevated plasma phospholipid n-3 docosapentaenoic acid concentrations during hibernation

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations

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

Gunnar Jungner and the Principles and Practice of Screening for Disease

The ganglion cell complex thickness and visual function in leber hereditary optic neuropathy

Comment to: “SCA4 Unravelled After More than 25Years Using Advanced Genomic Technologies”

Comment to: “SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies”

A novel nutritional approach to infants and children with congenital diarrhea due to homozygous DGAT1 mutations

Novel findings in a Swedish primary familial brain calcification cohort

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Identification of Disease Genes in Rare Neurological Conditions

Left ventricular diastolic function, assessed by echocardiography and tissue Doppler imaging, is a strong predictor of cardiovascular events, superior to global left ventricular longitudinal strain, in patients with type 2 diabetes

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain

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

Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier: Case Report and Review of the Literature

Status epilepticus in POLG disease: a large multinational study

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

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