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E. Lohmann · SciRah

Researcher profile · Semantic Scholar

E. Lohmann

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E. Lohmann — researcher profile on SciRah

h-index: 42
Works: 138
Citations: 9,003

Most-cited papers

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis
G. Kleinberger, Yoshinori Yamanishi, M. Suárez-Calvet, Eva Czirr +29 more
2014Science Translational Medicine756 citations
Semantic Scholar
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
S. Lesage, Valérie Drouet, E. Majounie, V. Deramecourt +38 more
2016American Journal of Human Genetics418 citations Open access
Semantic Scholar
Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement
R. Guerreiro, E. Lohmann, J. Brás, J. R. Gibbs +9 more
2012JAMA Neurology361 citations Open access
Semantic Scholar
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
M. Muona, S. Berkovic, L. Dibbens, Karen L. Oliver +47 more
2014Nature Genetics282 citations Open access
Semantic Scholar
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
S. Lesage, M. Anheim, C. Condroyer, P. Pollak +10 more
2011Human Molecular Genetics279 citations Open access
Semantic Scholar
The interleukin 1 alpha, interleukin 1 beta, interleukin 6 and alpha-2-macroglobulin serum levels in patients with early or late onset Alzheimer's disease, mild cognitive impairment or Parkinson's disease.
E. Dursun, D. Gezen-Ak, H. Hanağası, B. Bilgiç +12 more
2015Journal of Neuroimmunology222 citations
Semantic Scholar
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.
M. Saad, S. Lesage, A. Saint-Pierre, J.-C. Corvol +35 more
2011Human Molecular Genetics177 citations Open access
Semantic Scholar
Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia
P. Brownjohn, James Smith, Ravi Solanki, E. Lohmann +4 more
2018Stem Cell Reports173 citations Open access
Semantic Scholar
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
N. Mencacci, I. Rubio‐Agusti, A. Zdebik, F. Asmus +29 more
2015American Journal of Human Genetics138 citations Open access
Semantic Scholar
A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family
R. Guerreiro, B. Bilgiç, G. Guven, J. Brás +5 more
2013Neurobiology of Aging125 citations Open access
Semantic Scholar
Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease
R. Guerreiro, E. Lohmann, E. Kinsella, J. Brás +11 more
2011Neurobiology of Aging112 citations Open access
Semantic Scholar
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
M. Minnerop, D. Kurzwelly, H. Wagner, A. Soehn +52 more
2017Brain : a journal of neurology105 citations Open access
Semantic Scholar
Characterization of Recessive Parkinson Disease in a Large Multicenter Study
S. Lesage, A. Lunati, Marion Houot, Sawssan Ben Romdhan +29 more
2020Annals of Neurology72 citations Open access
Semantic Scholar
A new F‐box protein 7 gene mutation causing typical Parkinson's disease
E. Lohmann, Anne-Sophie Coquel, A. Honoré, H. Gurvit +10 more
2015Movement Disorders70 citations
Semantic Scholar
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson’s disease
S. Lesage, C. Condroyer, A. Lannuzel, E. Lohmann +13 more
2009Journal of Medical Genetics62 citations Open access
Semantic Scholar
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
S. Lesage, E. Patin, C. Condroyer, A. Leutenegger +21 more
2010Human Molecular Genetics61 citations Open access
Semantic Scholar
Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations
N. Limousin, E. Konofal, E. Karroum, E. Lohmann +3 more
2009Movement Disorders49 citations
Semantic Scholar
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
S. Lesage, C. Condroyer, S. Klebe, E. Lohmann +11 more
2012Neurobiology of Aging47 citations Open access
Semantic Scholar
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients
E. Lohmann, R. Guerreiro, N. Erginel-Unaltuna, N. Gurunlian +6 more
2012Neurobiology of Aging44 citations Open access
Semantic Scholar
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation
S. Doss, K. Lohmann, P. Seibler, B. Arns +15 more
2013Journal of Neurology43 citations
Semantic Scholar
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort
S. Lesage, Marion Houot, G. Mangone, C. Tesson +21 more
2020Frontiers in Neurology42 citations Open access
Semantic Scholar
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
T. Roux, M. Barbier, M. Papin, C. Davoine +17 more
2020Genetics in Medicine41 citations Open access
Semantic Scholar
Vitamin D deficiency might pose a greater risk for ApoEɛ4 non-carrier Alzheimer’s disease patients
E. Dursun, M. Alaylıoğlu, B. Bilgiç, H. Hanağası +8 more
2016Neurological Sciences38 citations
Semantic Scholar
Reduced Orexin-A Levels in Frontotemporal Dementia
A. Çoban, B. Bilgiç, E. Lohmann, C. Küçükali +5 more
2013American Journal of Alzheimers Disease & Other Dementias37 citations Open access
Semantic Scholar
A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson’s disease
C. Fevga, Yangshin Park, E. Lohmann, A. Kievit +11 more
2021Parkinsonism & Related Disorders33 citations Open access
Semantic Scholar
A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
E. Lohmann, L. Leclere, F. de Anna, S. Lesage +4 more
2009Parkinsonism & Related Disorders33 citations
Semantic Scholar
HPCA confirmed as a genetic cause of DYT2‐like dystonia phenotype
Burcu Atasu, H. Hanağası, B. Bilgiç, Meltem Pak +7 more
2018Movement Disorders32 citations
Semantic Scholar
A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.
H. Hanağası, Anamika Giri, E. Kartal, G. Guven +8 more
2016Parkinsonism & Related Disorders32 citations
Semantic Scholar
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort
N. Mencacci, L. R'bibo, S. Bandres-Ciga, M. Carecchio +12 more
2015Human Molecular Genetics30 citations Open access
Semantic Scholar
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients
G. Guven, E. Lohmann, Jose Bras, J. R. Gibbs +11 more
2016PLoS ONE28 citations Open access
Semantic Scholar
Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia
N. Mencacci, Marisa M. Brockmann, Jinye Dai, S. Pajusalu +31 more
2020bioRxiv26 citations Open access
Semantic Scholar
PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism
Anamika Giri, G. Guven, H. Hanağası, A. Hauser +7 more
2016Tremor and Other Hyperkinetic Movements26 citations Open access
Semantic Scholar
Exome sequencing in a family with restless legs syndrome
A. Weissbach, Katharina Siegesmund, N. Bruggemann, A. Schmidt +11 more
2012Movement Disorders25 citations
Semantic Scholar
LOW DISEASE RISK IN RELATIVES OF NORTH AFRICAN LRRK2 PARKINSON DISEASE PATIENTS
A. Troiano, A. Elbaz, E. Lohmann, Soreya Belarbi +10 more
2010Neurology25 citations Open access
Semantic Scholar
Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population
E. Lohmann, B. Dursun, S. Lesage, H. Hanağası +11 more
2012European Journal of Neurology23 citations
Semantic Scholar
Clinical variability in ataxia–telangiectasia
E. Lohmann, Stefanie Krüger, A. Hauser, H. Hanağası +4 more
2015Journal of Neurology22 citations
Semantic Scholar
A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors
Imogen J. Swift, R. Rademakers, N. Finch, Matt Baker +93 more
2024Alzheimer's Research & Therapy20 citations Open access
Semantic Scholar
Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis
G. Yunisova, Z. Tufekcioglu, O. Doğu, B. Bilgiç +6 more
2020Neurodegenerative Diseases19 citations
Semantic Scholar
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
N. Schwarz, Simone Seiffert, M. Pendziwiat, Annika V. Rademacher +44 more
2022Neurology18 citations Open access
Semantic Scholar
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
M. Thomsen, F. Ott, S. Loens, G. Kilic-Berkmen +44 more
2025Annals of Clinical and Translational Neurology15 citations Open access
Semantic Scholar
Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey.
C. Kessler, Burcu Atasu, H. Hanağası, J. Simón-Sánchez +7 more
2017Parkinsonism & Related Disorders15 citations
Semantic Scholar
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
E. Lohmann, Ç. Köroğlu, H. Hanağası, B. Dursun +2 more
2012Parkinsonism & Related Disorders15 citations
Semantic Scholar
Peripheral TREM2 mRNA levels in early and late-onset Alzheimer disease’s patients
G. Guven, B. Bilgiç, B. Samancı, H. Gurvit +5 more
2020Molecular Biology Reports14 citations
Semantic Scholar
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights
Burcu Atasu, J. Simón-Sánchez, H. Hanağası, B. Bilgiç +5 more
2024Journal of Medical Genetics13 citations Open access
Semantic Scholar
LRP10 in α-synucleinopathies.
C. Tesson, C. Brefel-Courbon, J. Corvol, S. Lesage +19 more
2018Lancet Neurology13 citations
Semantic Scholar
Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia
G. Guven, B. Bilgiç, Z. Tufekcioglu, Nihan Erginel Unaltuna +9 more
2018Journal of Alzheimer's Disease12 citations Open access
Semantic Scholar
Differentiating symptomatic Parkin mutations carriers from patients with idiopathic Parkinson's disease: contribution of automated segmentation neuroimaging method.
B. Bilgiç, A. Bayram, A. B. Arslan, H. Hanağası +4 more
2012Parkinsonism & Related Disorders12 citations
Semantic Scholar
Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review
Burcu Atasu, Ayşe Nur Özdağ Acarlı, B. Bilgiç, B. Baykan +10 more
2022BMC Neurology11 citations Open access
Semantic Scholar
Peripheral Expression of IL-6, TNF-α and TGF-β1 in Alzheimer’s Disease Patients
Gamze Güven, Pınar Köseoğlu, E. Lohmann, B. Samancı +5 more
2024Turkish Journal of Immunology9 citations Open access
Semantic Scholar
Event-related potential changes due to early-onset Parkinson's disease in parkin (PARK2) gene mutation carriers and non-carriers.
A. Uslu, M. Ergen, Hasan Demirci, E. Lohmann +2 more
2020Clinical Neurophysiology9 citations
Semantic Scholar

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H. Hanağası×27
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H. Hanağası — researcher profile on SciRah
B. Bilgiç×22
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B. Bilgiç — researcher profile on SciRah
H. Gurvit×15
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H. Gurvit — researcher profile on SciRah
M. Emre×15
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M. Emre — researcher profile on SciRah

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S. Lesage — researcher profile on SciRah

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G. Guven — researcher profile on SciRah

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A. Brice — researcher profile on SciRah

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T. Gasser — researcher profile on SciRah

N. Erginel-Unaltuna×9

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N. Erginel-Unaltuna — researcher profile on SciRah

A. Singleton×8

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A. Singleton — researcher profile on SciRah

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A. Hauser — researcher profile on SciRah

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J. Hardy — researcher profile on SciRah