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High mitochondrial DNA copy number has detrimental effects in mice

Human molecular genetics, 2010-07, Vol.19 (13), p.2695-2705

2010

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ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Human molecular genetics, 2017-04, Vol.26 (8), p.1432-1443

2017

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ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons

Neurobiology of disease, 2020-07, Vol.141, p.104940-104940, Article 104940

2020

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Mutant Mitochondrial Helicase Twinkle Causes Multiple mtDNA Deletions and a Late-Onset Mitochondrial Disease in Mice

Proceedings of the National Academy of Sciences - PNAS, 2005-12, Vol.102 (49), p.17687-17692

2005

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

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1427-1430

2015

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Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease

Frontiers in neurology, 2023-11, Vol.14, p.1277944-1277944

2023

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Attitudes towards genetic testing and information: does parenthood shape the views?

Journal of community genetics, 2020-10, Vol.11 (4), p.461-473

2020

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Mechanisms of mitochondrial diseases

Annals of medicine (Helsinki), 2012-02, Vol.44 (1), p.41-59

2012

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Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons

Frontiers in cell and developmental biology, 2022-02, Vol.9, p.820105

2022

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Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1

FEBS open bio, 2022-07, Vol.12 (7), p.1306-1324

2022

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Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

Frontiers in neurology, 2022-02, Vol.13, p.793937-793937

2022

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Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

Neurology. Genetics, 2018-06, Vol.4 (3), p.e244-e244

2018

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Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

Neurogenetics, 2013-05, Vol.14 (2), p.123-132

2013

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The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice

PloS one, 2013-06, Vol.8 (6), p.e67642-e67642

2013

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Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Annals of clinical and translational neurology, 2020-10, Vol.7 (10), p.1962-1972

2020

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Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

Brain (London, England : 1878), 2018-09, Vol.141 (9), p.e67-e67

2018

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De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

Brain (London, England : 1878), 2020-12, Vol.143 (12), p.e104-e104

2020

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Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders

Acta neurologica Scandinavica, 2022-01, Vol.145 (1), p.63-72

2022

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Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Human molecular genetics, 2013-08, Vol.22 (15), p.2975-2983

2013

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A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

American journal of human genetics, 2009-08, Vol.85 (2), p.290-295

2009

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Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism

Cell calcium (Edinburgh), 2023-09, Vol.114, p.102782-102782, Article 102782

2023

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Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

Human molecular genetics, 2022-03, Vol.31 (6), p.958-974

2022

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Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia

Neuromuscular disorders : NMD, 2024-02, Vol.35, p.29-32

2024

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

Neurogenetics, 2023-10, Vol.24 (4), p.291-301

2023

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High mitochondrial DNA copy number has detrimental effects in mice

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons

Mutant Mitochondrial Helicase Twinkle Causes Multiple mtDNA Deletions and a Late-Onset Mitochondrial Disease in Mice

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

Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease

Attitudes towards genetic testing and information: does parenthood shape the views?

Mechanisms of mitochondrial diseases

Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons

Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia

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

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