Cockayne syndrome: Clinical features, model systems and pathways

AC Karikkineth, M Scheibye-Knudsen, E Fivenson… - Ageing research …, 2017 - Elsevier
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features
including cachectic dwarfism, severe neurological manifestations including microcephaly …

Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features

G Donzuso, G Mostile, A Nicoletti, M Zappia - Neurological sciences, 2019 - Springer
Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients
undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with …

[HTML][HTML] A high-fat diet and NAD+ activate Sirt1 to rescue premature aging in cockayne syndrome

M Scheibye-Knudsen, SJ Mitchell, EF Fang, T Iyama… - Cell metabolism, 2014 - cell.com
Cockayne syndrome (CS) is an accelerated aging disorder characterized by progressive
neurodegeneration caused by mutations in genes encoding the DNA repair proteins CS …

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

BT Wilson, Z Stark, RE Sutton, S Danda… - Genetics in …, 2016 - nature.com
Purpose: Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by
microcephaly, impaired postnatal growth, and premature pathological aging. It has …

Cockayne syndrome: the expanding clinical and mutational spectrum

V Laugel - Mechanisms of ageing and development, 2013 - Elsevier
Cockayne syndrome is a progressive multisystem disorder characterized by a specific
cellular defect in transcription-coupled repair. Typical features include developmental delay …

Intracranial lesions with high signal intensity on T1-weighted MR images: differential diagnosis

DT Ginat, SP Meyers - Radiographics, 2012 - pubs.rsna.org
Various substances, including methemoglobin, melanin, lipid, protein, calcium, iron, copper,
and manganese, are responsible for the intrinsically high signal intensity observed in …

Mitochondrial functions and rare diseases

L Dard, W Blanchard, C Hubert, D Lacombe… - Molecular Aspects of …, 2020 - Elsevier
Mitochondria are dynamic cellular organelles responsible for a large variety of biochemical
processes as energy transduction, REDOX signaling, the biosynthesis of hormones and …

DNA damage in the oligodendrocyte lineage and its role in brain aging

KH Tse, K Herrup - Mechanisms of ageing and development, 2017 - Elsevier
Myelination is a recent evolutionary addition that significantly enhances the speed of
transmission in the neural network. Even slight defects in myelin integrity impair …

Xeroderma pigmentosum-Cockayne syndrome complex

V Natale, H Raquer - Orphanet journal of rare diseases, 2017 - Springer
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem
degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651) …

Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease

Y Wang, P Chakravarty, M Ranes… - Proceedings of the …, 2014 - National Acad Sciences
Cockayne syndrome (CS) is a multisystem disorder with severe neurological symptoms. The
majority of CS patients carry mutations in Cockayne syndrome group B (CSB), best known …