Cockayne Syndrome

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

Stafki SA, Johnnie Turner, Hannah Littel, Christine Bruels, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Peter Kang. The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. Pediatr Neurol. 2023 Apr;141:79-86. doi: 10.1016/j.pediatrneurol.2023.01.011. Epub 2023 Jan 24. PMID: 36791574; PMCID: PMC10098370.

Peripheral neuropathies associated with DNA repair disorders

Maguina M, Peter Kang, Tsai AC, Pacak CA. Peripheral neuropathies associated with DNA repair disorders. Muscle Nerve. 2023 Feb;67(2):101-110. doi: 10.1002/mus.27721. Epub 2022 Oct 3. PMID: 36190439; PMCID: PMC10075233.

Growth charts in Cockayne syndrome type 1 and type 2

Baer S, Tuzin N, Peter Kang, Mohammed S, Kubota M, van Ierland Y, Busa T, Rossi M, Morel G, Michot C, Baujat G, Durand M, Obringer C, Le May N, Calmels N, Laugel V. Growth charts in Cockayne syndrome type 1 and type 2. Eur J Med Genet. 2021 Jan;64(1):104105. doi: 10.1016/j.ejmg.2020.104105. Epub 2020 Nov 20. PMID: 33227433.

Response of motor complications in Cockayne syndrome to carbidopa-levodopa

Neilan EG, Delgado MR, Donovan MA, Kim SY, Jou RL, Wu BL, Peter Kang. Response of motor complications in Cockayne syndrome to carbidopa-levodopa. Arch Neurol. 2008 Aug;65(8):1117-21. doi: 10.1001/archneur.65.8.1117. PMID: 18695064.