List of works - Ebba Lohmann

A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations

scientific article

A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations.

scientific article published on 17 July 2009

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

scientific article published in January 2009

Association between selected cholesterol-related gene polymorphisms and Alzheimer's disease in a Turkish cohort

scientific article published on 25 January 2019

Complex relationship between Parkin mutations and Parkinson disease

scientific article

Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism

scientific article

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? ⬇️

scientific article published on June 1, 2012

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

scientific article

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease

scientific article

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

scientific article published on November 2005

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

scientific article published on 17 November 2010

How much phenotypic variation can be attributed to parkin genotype?

scientific article

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients

scientific article

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans

scientific article published on March 2007

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

scientific article published in August 2005

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

scientific article published on 14 October 2010

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

scientific article

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

scientific article

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

scientific article

Parkin mutations are frequent in patients with isolated early-onset parkinsonism

scientific article published in June 2003

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

scientific article

Peripheral TREM2 mRNA levels in early and late-onset Alzheimer disease's patients

scientific article published on 17 July 2020

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

scientific article published in January 2007

List of works by Ebba Lohmann

A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations

A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations.

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

Association between selected cholesterol-related gene polymorphisms and Alzheimer's disease in a Turkish cohort

Complex relationship between Parkin mutations and Parkinson disease

Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? ⬇️

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

How much phenotypic variation can be attributed to parkin genotype?

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

Parkin mutations are frequent in patients with isolated early-onset parkinsonism

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

Peripheral TREM2 mRNA levels in early and late-onset Alzheimer disease's patients

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations