Results 71 to 80 of about 4,495 (156)

Premature aging in genetic diseases: what conclusions can be drawn for physiological aging

Frontiers in Aging
According to current views the major hallmarks of physiological aging may be subdivided into three categories, primary causes of cellular damage (genomic instability, telomere attrition, loss of proteostasis, epigenetic alterations and compromised ...
Filip Milosic, Markus Hengstschläger, Selma Osmanagic-Myers   +2 more
doaj   +1 more source

A Case of ERCC6-Related Cockayne Syndrome Presenting with Levodopa-Responsive Tremor Syndrome. [PDF]

Mov Disord Clin Pract, 2023
Salari M, Rezaei K, Asadi S, Etemadifar M.   +3 more
europepmc   +1 more source

Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome. [PDF]

Aging Cell, 2023
Crochemore C, Chica C, Garagnani P, Lattanzi G, Horvath S, Sarasin A, Franceschi C, Bacalini MG, Ricchetti M.   +8 more
europepmc   +1 more source

Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation. [PDF]

Chin Med J (Engl), 2023
Cheng H, Chen D, Wu Z, Wang N.
europepmc   +1 more source

Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia. [PDF]

Intern Med, 2023
Takahashi N, Mishima T, Fujioka S, Izumi K, Ando M, Higuchi Y, Takashima H, Tsuboi Y.   +7 more
europepmc   +1 more source

Cockayne Syndrome [PDF]

, 2020
openaire   +3 more sources

Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome. [PDF]

Mol Genet Genomic Med, 2023
Wang X, Li Y, Zhao A, Wang Y, Cao Q, Pan C, Li M.   +6 more
europepmc   +1 more source

Characterisation of a novel missense mutation in the <i>ERCC5</i> gene leading to group G xeroderma pigmentosum/Cockayne syndrome overlap. [PDF]

BMJ Case Rep, 2023
Stehnach WC, Cantor A, Bongiorno M.
europepmc   +1 more source

Structural basis of nucleosome remodeling by Cockayne syndrome B homologue Komagataella phaffii Rad26. [PDF]

Nat Commun
Fukushima Y, Kinoshita C, Negishi L, Kujirai T, Kobayashi Y, Ogasawara M, Ehara H, Sekine SI, Kagawa W, Kurumizaka H, Takizawa Y.   +10 more
europepmc   +1 more source

Neuroimages of an Adult Cockayne Syndrome Patient. [PDF]

Intern Med
Maeda K.
europepmc   +1 more source