User profiles for "author:Eleanna Kara"
 | Eleanna KaraUCL Verified email at ucl.ac.uk Cited by 4551 |
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
We conducted a meta-analysis of Parkinson's disease genome-wide association studies
using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty …
using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty …
[HTML][HTML] α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
We report a British family with young-onset Parkinson's disease (PD) and a G51D SNCA
mutation that segregates with the disease. Family history was consistent with autosomal …
mutation that segregates with the disease. Family history was consistent with autosomal …
[PDF][PDF] Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA
TB Haack, P Hogarth, MC Kruer, A Gregory… - The American journal of …, 2012 - cell.com
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders
characterized by abnormal iron deposition in the basal ganglia. We report that de novo …
characterized by abnormal iron deposition in the basal ganglia. We report that de novo …
[HTML][HTML] Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Although manganese is an essential trace metal, little is known about its transport and
homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal …
homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal …
THAP1 mutations and dystonia phenotypes: genotype phenotype correlations
G Xiromerisiou, H Houlden, N Scarmeas… - Movement …, 2012 - Wiley Online Library
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation
types and locations in the THAP1 gene have been associated with a range of severity and …
types and locations in the THAP1 gene have been associated with a range of severity and …
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders
that are clinically classified as either pure with predominant lower limb spasticity, or complex …
that are clinically classified as either pure with predominant lower limb spasticity, or complex …
Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia
J Hersheson, NE Mencacci, M Davis… - Annals of …, 2013 - Wiley Online Library
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an
autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a …
autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a …
[HTML][HTML] TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p. Q124E MAPT
H Ling, E Kara, R Bandopadhyay, J Hardy, J Holton… - Neurobiology of …, 2013 - Elsevier
Leucine-rich repeat kinase 2 (LRRK2) mutation is the most common cause of genetic-
related parkinsonism and is usually associated with Lewy body pathology; however, tau, α …
related parkinsonism and is usually associated with Lewy body pathology; however, tau, α …
[HTML][HTML] Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation
Background We and others have described the neurodegenerative disorder caused by
G51D SNCA mutation which shares characteristics of Parkinson's disease (PD) and multiple …
G51D SNCA mutation which shares characteristics of Parkinson's disease (PD) and multiple …
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene
Importance The leukodystrophies comprise a clinically and genetically heterogeneous
group of progressive hereditary neurological disorders mainly affecting the myelin in the …
group of progressive hereditary neurological disorders mainly affecting the myelin in the …