User profiles for Olaf Riess
Olaf RiessProfessor der Humangenetik, Universität Tübingen Verified email at med.uni-tuebingen.de Cited by 41814 |
[PDF][PDF] AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease
…, S Kösel, H Przuntek, JT Epplen, L Schols, O Riess - Nature …, 1998 - academia.edu
Ckk disease (PD) is characterized by progressive neuronal degeneration which predominantly
affects the dopaminergic neurons in the nigrostriatal system but also several other …
affects the dopaminergic neurons in the nigrostriatal system but also several other …
Genome-wide association study reveals genetic risk underlying Parkinson's disease
We performed a genome-wide association study (GWAS) in 1,713 individuals of European
ancestry with Parkinson's disease (PD) and 3,978 controls. After replication in 3,361 cases …
ancestry with Parkinson's disease (PD) and 3,978 controls. After replication in 3,361 cases …
[HTML][HTML] Swarm learning for decentralized and confidential clinical machine learning
S Warnat-Herresthal, H Schultze, KL Shastry… - Nature, 2021 - nature.com
Fast and reliable detection of patients with severe and heterogeneous illnesses is a major
goal of precision medicine 1 , 2 . Patients with leukaemia can be identified using machine …
goal of precision medicine 1 , 2 . Patients with leukaemia can be identified using machine …
[PDF][PDF] Severe COVID-19 is marked by a dysregulated myeloid cell compartment
J Schulte-Schrepping, N Reusch, D Paclik, K Baßler… - Cell, 2020 - cell.com
Coronavirus disease 2019 (COVID-19) is a mild to moderate respiratory tract infection, however,
a subset of patients progress to severe disease and respiratory failure. The mechanism …
a subset of patients progress to severe disease and respiratory failure. The mechanism …
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
…, P Bauer, T Schmidt, T Schulte, O Riess - The Lancet …, 2004 - thelancet.com
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era, …
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era, …
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
…, D Horn, J Hoyer, P Joset, A Röpke, U Moog, A Riess… - The Lancet, 2012 - thelancet.com
Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …
of the absence of morphological clues, information about the position of such genes, and …
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
…, H Wolburg, J Downward, O Riess… - Human molecular …, 2005 - academic.oup.com
Recently targeted disruption of Omi/HtrA2 has been found to cause neurodegeneration and
a parkinsonian phenotype in mice. Using a candidate gene approach, we performed a …
a parkinsonian phenotype in mice. Using a candidate gene approach, we performed a …
Collaborative analysis of α-synuclein gene promoter variability and Parkinson disease
ContextIdentification and replication of susceptibility genes for Parkinson disease at the
population level have been hampered by small studies with potential biases. α-Synuclein (SNCA…
population level have been hampered by small studies with potential biases. α-Synuclein (SNCA…
14-3-3 proteins in the nervous system
D Berg, C Holzmann, O Riess - Nature Reviews Neuroscience, 2003 - nature.com
14-3-3 proteins are abundantly expressed in the brain and have been detected in the
cerebrospinal fluid of patients with different neurological disorders. Although the function of this …
cerebrospinal fluid of patients with different neurological disorders. Although the function of this …
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
…, MA Boss, AM Vieria-Saecker, JT Epplen, O Riess… - Nature …, 1999 - nature.com
The genetic aetiologies of at least 20% of autosomal dominant spinocerebellar ataxias (SCAs)
have yet to be elucidated 1. We have recently identified a novel form of autosomal …
have yet to be elucidated 1. We have recently identified a novel form of autosomal …