Publications

PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases

Tan AI, Lohmann K, Tay YW, Lim JL, Ahmad-Annuar A, Ramli N, Chin YT, Mawardi AS, Azmi K, Aziz ZA, Puvanarajah SD, Bauer P, Klein C, Rolfs A, Lim SY
Parkinsonism Relat Disord. 2020 Oct;79:34-39. doi: 10.1016/j.parkreldis.2020.08.015. Epub 2020 Aug 19.
https://pubmed.ncbi.nlm.nih.gov/32861104/

Transgenerational transduction of MPTP-induced alterations in a Parkinson’s disease mouse model

Alvarez-Fischer D, Vernik T, Vulinovic F, Herrmann A, Westenberger A, Klein C
Parkinsonism Relat Disord. 2020 Oct;79:88-90. doi: 10.1016/j.parkreldis.2020.08.017. Epub 2020 Aug 14.
https://pubmed.ncbi.nlm.nih.gov/32906083/

Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters

Lim SY, Lim JL, Ahmad-Annuar A, Lohmann K, Tan AH, Lim KB, Tay YW, Shing YL, Muthusamy KA, Bauer P, Rolfs A, Klein C
Neurodegener Dis. 2020;20(1):39-45. doi: 10.1159/000508131. Epub 2020 Jun 24.
https://pubmed.ncbi.nlm.nih.gov/32580205/

Don’t do harm by diagnosis – An abnormal cranial CT: Still fa(h)r from a disease

Balck A, Borsche M, Grütz K, Brüggemann N, Westenberger A, Klein C, Alvarez-Fischer D
Parkinsonism Relat Disord. 2020 Jun;75:116-118. doi: 10.1016/j.parkreldis.2020.02.016.
https://pubmed.ncbi.nlm.nih.gov/32762896/

Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia

Cascalho A, Foroozandeh J, Hennebel L, Swerts J, Klein C, Rous S, Dominguez Gonzalez B, Pisani A, Meringolo M, Gallego SF, Verstreken P, Seibler P, Goodchild RE
Brain. 2020 Jun 1;143(6):1746-1765. doi: 10.1093/brain/awaa139.
https://pubmed.ncbi.nlm.nih.gov/32516804/

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

Parenti I, Diab F, Ruiz Gil S, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T , Gines MM, van Staveren T, van IJcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS
Cell Rep. 2020 May 19;31(7):107647. doi: 10.1016/j.celrep.2020.107647.
https://pubmed.ncbi.nlm.nih.gov/32433956/

Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia

Saranza G, Grütz K, Klein C, Westenberger A, Lang AE
Brain. 2020 May 1;143(5):e36. doi: 10.1093/brain/awaa086.
https://pubmed.ncbi.nlm.nih.gov/32303062/

Needle in a Haystack: The Common Can Inform the Rare in Restless Legs Syndrome

Trinh J, Klein C
Ann Neurol. 2020 Feb;87(2):172-174. doi: 10.1002/ana.25663. Epub 2020 Jan 11.
https://pubmed.ncbi.nlm.nih.gov/31376168/

The Role of Rare Coding Variants in Parkinson’s Disease GWAS Loci

Germer EL, Imhoff S, Vilariño-Güell C, Kasten M, Seibler P, Brüggemann N, International Parkinson’s Disease Genomics Consortium, Klein C, Trinh J
Front Neurol. 2019 Dec 13;10:1284. doi: 10.3389/fneur.2019.01284. eCollection 2019.
https://pubmed.ncbi.nlm.nih.gov/31920912/

Scroll to Top