Browsing Universitätsbibliographie by Author "Lohmann, Ebba"

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A comprehensive analysis of copy number variation in a Turkish dementia cohort

Lohmann, Ebba (2021)
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Asmus, Friedrich; Hauser, Ann-Kathrin; Lohmann, Ebba; Gasser, Thomas (2015)
A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease

Lohmann, Ebba (2021)
A new F-box protein 7 gene mutation causing typical Parkinson's disease

Lohmann, Ebba (2015)
A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family

Lohmann, Ebba (2013)
A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

Giri, Anamika; Hauser, Ann-Kathrin; Heutink, Peter; Gasser, Thomas; Simón-Sánchez, Javier; Lohmann, Ebba (2016)
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Maljevic, Snezana; Lohmann, Ebba; Lerche, Holger (2015)
Association between selected cholesterol-related gene polymorphisms and Alzheimer's disease in a Turkish cohort

Lohmann, Ebba (2019)
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

Atasu, Burcu; Simón-Sánchez, Javier; Wiethoff, Sarah; Gasser, Thomas; Lohmann, Ebba (2021)
Characterization of Recessive Parkinson Disease in a Large Multicenter Study

Lohmann, Ebba (2020)
Clinical variability in ataxia-telangiectasia

Lohmann, Ebba; Hauser, Ann-Kathrin; Gasser, Thomas (2015)
Clinical, neuropathological, and genetic characterization ofSTUB1variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Lohmann, Ebba (2020)
Event-related potential changes due to early-onset Parkinson's disease in parkin (PARK2) gene mutation carriers and non-carriers

Lohmann, Ebba (2020)
Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia

Lohmann, Ebba (2018)
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort

Lohmann, Ebba (2020)
HPCA Confirmed as a Genetic Cause of DYT2-Like Dystonia Phenotype

Atasu, Burcu; Hauser, Ann-Kathrin; Simón-Sánchez, Javier; Heutink, Peter; Gasser, Thomas; Lohmann, Ebba (2018)
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Reichbauer, Jennifer; Hengel, Holger; Atasu, Burcu; Lindig, Tobias; Sturm, Marc; Bauer, Peter; Lohmann, Ebba; Söhn, Anne; Rattay, Tim Wilfried; Synofzik, Matthis; Schöls, Ludger; Schüle, Rebecca (2017)
Loss of VPS1 3C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Liebau, Stefan; Heutink, Peter; Gasser, Thomas; Lohmann, Ebba (2016)
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

Lohmann, Ebba; Rizzu, Patrizia; Heutink, Peter (2016)
Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

Lohmann, Ebba; Guven, Gamze; Erginel-Unaltuna, Nihan (2017)

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