Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

…, A Xue, J Bras, E Young, R von Coelln… - The Lancet …, 2019 - thelancet.com
Background Genome-wide association studies (GWAS) in Parkinson's disease have increased
the scope of biological knowledge about the disease over the past decade. We aimed to …

Clinical subtypes and genetic heterogeneity: of lumping and splitting in Parkinson disease

R von Coelln, LM Shulman - Current opinion in neurology, 2016 - journals.lww.com
Evidence of clinical, genetic and pathological heterogeneity of Parkinson disease continues
to emerge, but clearly defined subtypes that hold up in more than one of these domains …

Parkinson's disease age at onset genome‐wide association study: defining heritability, genetic loci, and α‐synuclein mechanisms

…, S Bandres‐Ciga, R Von Coelln… - Movement …, 2019 - Wiley Online Library
Background Increasing evidence supports an extensive and complex genetic contribution to
PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic …

Loss of locus coeruleus neurons and reduced startle in parkin null mice

R Von Coelln, B Thomas, JM Savitt… - Proceedings of the …, 2004 - National Acad Sciences
Parkinson's disease (PD) is the most common neurodegenerative movement disorder and
is characterized pathologically by degeneration of catecholaminergic neurons of the …

Accumulation of the authentic parkin substrate aminoacyl-tRNA synthetase cofactor, p38/JTV-1, leads to catecholaminergic cell death

HS Ko, R Von Coelln, SR Sriram, SW Kim… - Journal of …, 2005 - Soc Neuroscience
Autosomal-recessive juvenile parkinsonism (AR-JP) is caused by loss-of-function mutations
of the parkin gene. Parkin, a RING-type E3 ubiquitin ligase, is responsible for the …

Parkin-associated Parkinson's disease

R Von Coelln, VL Dawson, TM Dawson - Cell and tissue research, 2004 - Springer
Mutations in the PARK2 gene coding for parkin cause autosomal recessive juvenile
parkinsonism (AR-JP), a familial form of Parkinson’s disease (PD). Parkin functions as an E3 …

Expanding Parkinson's disease genetics: novel risk loci, genomic context, causal insights and heritable risk

…, AJ Noyce, A Xue, J Bras, E Young, R von Coelln… - BioRxiv, 2019 - biorxiv.org
We performed the largest genome-wide association study of PD to date, involving the
analysis of 7.8M SNPs in 37.7K cases, 18.6K UK Biobank proxy-cases, and 1.4M controls. We …

Ultrasound‐guided injection of the iliopsoas muscle with botulinum toxin in camptocormia

R von Coelln, A Raible, T Gasser… - Movement …, 2008 - Wiley Online Library
Camptocormia is characterized by an abnormal posture of the trunk with pronounced flexion
of the thoraco‐lumbar spine during standing and walking, which abates in a supine position…

Inclusion body formation and neurodegeneration are parkin independent in a mouse model of α-synucleinopathy

R Von Coelln, B Thomas, SA Andrabi… - Journal of …, 2006 - Soc Neuroscience
Mutations in the genes coding for α-synuclein and parkin cause autosomal-dominant and
autosomal-recessive forms of Parkinson's disease (PD), respectively. α-Synuclein is a major …

Extended therapeutic window for caspase inhibition and synergy with MK-801 in the treatment of cerebral histotoxic hypoxia

…, JC Martinou, JÈ Lommatzsch, R von Coelln… - Cell Death & …, 1998 - nature.com
In rats, striatal histotoxic hypoxic lesions produced by the mitochondrial toxin malonate resemble
those of focal cerebral ischemia. Intrastriatal injections of malonate induced cleavage of …