Ebba Lohmann

Ebba Lohmann

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Ebba Lohmann

Ebba Lohmann

Publications by authors named "Ebba Lohmann"

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

Mol Biol Rep 2019 Apr 25;46(2):1701-1707. Epub 2019 Jan 25.

Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s11033-019-04619-8DOI Listing
April 2019

HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.

Mov Disord 2018 08 25;33(8):1354-1358. Epub 2018 Aug 25.

German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/mds.27442DOI Listing
August 2018

Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.

Stem Cell Reports 2018 04 29;10(4):1294-1307. Epub 2018 Mar 29.

The Gurdon Institute, ARUK Stem Cell Research Centre and Department of Biochemistry, University of Cambridge, Cambridge CB2 1QN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2018.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998752PMC
April 2018

Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey.

Parkinsonism Relat Disord 2018 03 9;48:34-39. Epub 2017 Dec 9.

Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.12.007DOI Listing
March 2018

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

Neurobiol Aging 2017 10 28;58:240.e1-240.e3. Epub 2017 Jun 28.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Department of Medical Sciences, Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal; UK Dementia Research Institute at UCL (UK DRI), London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985528PMC
October 2017

Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes.

Front Neurol 2017 30;8. Epub 2017 Jan 30.

Department of Medical Genetics and Applied Genomics, University of Tübingen , Tübingen , Germany.

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http://dx.doi.org/10.3389/fneur.2017.00009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5276852PMC
January 2017

Vitamin D deficiency might pose a greater risk for ApoEɛ4 non-carrier Alzheimer's disease patients.

Neurol Sci 2016 Oct 29;37(10):1633-43. Epub 2016 Jun 29.

Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, 34098, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s10072-016-2647-1DOI Listing
October 2016

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.

Parkinsonism Relat Disord 2016 08 3;29:117-20. Epub 2016 Mar 3.

Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Behavioral Neurology and Movement Disorders Unit, Capa, 34390 Istanbul, Turkey; Dept. of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2016.03.001DOI Listing
August 2016

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

Tremor Other Hyperkinet Mov (N Y) 2016 16;6:363. Epub 2016 Mar 16.

Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.7916/D81G0M12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811020PMC
April 2016

Clinical variability in ataxia-telangiectasia.

J Neurol 2015 Jul 10;262(7):1724-7. Epub 2015 May 10.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany,

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http://dx.doi.org/10.1007/s00415-015-7762-zDOI Listing
July 2015

A new F-box protein 7 gene mutation causing typical Parkinson's disease.

Mov Disord 2015 Jul 23;30(8):1130-3. Epub 2015 May 23.

Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.

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http://dx.doi.org/10.1002/mds.26266DOI Listing
July 2015

Unusual variability of PRRT2 linked phenotypes within a family.

Eur J Paediatr Neurol 2014 Jul 8;18(4):540-2. Epub 2014 Apr 8.

Epilepsiezentrum am Evangelischen Krankenhaus Alsterdorf, Hamburg, Germany; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.ejpn.2014.03.012DOI Listing
July 2014

Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.

Neurobiol Aging 2013 Dec 17;34(12):2890.e1-5. Epub 2013 Jul 17.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898264PMC
December 2013

The Relationship of White Matter Hyperintensities with Depressive Symptoms and Daily Living Activities in Early-Stage Alzheimer's Disease Patients.

Noro Psikiyatr Ars 2013 Dec 1;50(4):360-363. Epub 2013 Dec 1.

İstanbul University İstanbul Faculty of Medicine, Department of Neurology, Behavioral Neurology and Movement Disorders Unit, İstanbul, Turkey.

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http://dx.doi.org/10.4274/Npa.y6603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363429PMC
December 2013

Reduced orexin-A levels in frontotemporal dementia: possible association with sleep disturbance.

Am J Alzheimers Dis Other Demen 2013 Sep 27;28(6):606-11. Epub 2013 Jun 27.

Department of Neurology, Istanbul Faculty of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1177/1533317513494453DOI Listing
September 2013

Exome sequencing in a family with restless legs syndrome.

Mov Disord 2012 Nov;27(13):1686-9

Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.25191DOI Listing
November 2012

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

Neurobiol Aging 2012 Sep 1;33(9):2233.e1-2233.e5. Epub 2012 Jun 1.

Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975, Inserm, U975, Cnrs, UMR 7225, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.05.006DOI Listing
September 2012

Differentiating symptomatic Parkin mutations carriers from patients with idiopathic Parkinson's disease: contribution of automated segmentation neuroimaging method.

Parkinsonism Relat Disord 2012 Jun 24;18(5):562-6. Epub 2012 Mar 24.

Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Behavioral Neurology and Movement Disorders Unit, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.parkreldis.2012.02.017DOI Listing
June 2012

The impact of familial structure on Parkinson's disease in Istanbul Medical School, Turkey.

Int J Neurosci 2012 Feb 1;122(2):102-5. Epub 2011 Dec 1.

Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.3109/00207454.2011.631715DOI Listing
February 2012

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.

Parkinsonism Relat Disord 2012 Feb 21;18(2):191-3. Epub 2011 Oct 21.

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34390, Turkey.

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http://dx.doi.org/10.1016/j.parkreldis.2011.10.001DOI Listing
February 2012

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

Hum Mol Genet 2011 Jan 14;20(1):202-10. Epub 2010 Oct 14.

Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975, and Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddq454DOI Listing
January 2011

Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations.

Mov Disord 2009 Oct;24(13):1970-6

Unité des Pathologies du sommeil and UMR 975, Université Paris 6, Hôpital Pitié-Salpêtrière, Assistance Publique Hôpitaux de, Paris, France.

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http://dx.doi.org/10.1002/mds.22711DOI Listing
October 2009

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

Parkinsonism Relat Disord 2009 May 21;15(4):273-6. Epub 2008 Aug 21.

INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, F-75013 Paris, France.

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http://dx.doi.org/10.1016/j.parkreldis.2008.06.008DOI Listing
May 2009

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

Arch Neurol 2009 Jan;66(1):102-8

Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche en Santé (UMR)_S679 Neurologie & Thérapeutique Expérimentale, F-75013, Paris, France.

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http://dx.doi.org/10.1001/archneurol.2008.555DOI Listing
January 2009

Rapid eye movement sleep disturbances in Huntington disease.

Arch Neurol 2008 Apr;65(4):482-8

Pathologies du Sommeil, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), and U106, University Pierre and Marie Curie, Paris CEDEX 13, France.

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http://dx.doi.org/10.1001/archneur.65.4.482DOI Listing
April 2008

Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive.

Hum Genet 2008 Feb;123(1):114

INSERM, U679, boulevard de l'Hôpital, 47, 75013 Paris,

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February 2008

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

Neurodegener Dis 2007 ;4(2-3):195-8

INSERM, UMR 679, Neurology and Experimental Therapeutics, Hôpital de la Pitié-Salpêtrière, AP-HP, Faculté de Médecine, Université Pierre et Marie Curie-Paris 6, Paris, France.

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http://dx.doi.org/10.1159/000101844DOI Listing
October 2007

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.

Arch Neurol 2007 Mar;64(3):425-30

Institut National de la Santé et de la Recherche Médicale Unité 679, Neurology and Experimental Therapeutics, and Faculté de Médecine, Université Pierre et Marie Curie, 75651 Paris CEDEX 13, France.

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http://dx.doi.org/10.1001/archneur.64.3.425DOI Listing
March 2007

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

Hum Mutat 2007 Jan;28(1):27-32

INSERM U679, Neurology and Experimental Therapeutics, Centre Hospitalier Universitaire (CHU) Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

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http://dx.doi.org/10.1002/humu.20436DOI Listing
January 2007

Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.

Arch Neurol 2006 Sep;63(9):1257-61

Institut National de la Santé et de la Recherche Médicale U679, Assistance Publique, Hôpitaux de Paris, Faculté de Médecine, Université Paris 6-Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, 47 Blvd. de l'Hôpital, 75651 Paris CEDEX 13, France.

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http://dx.doi.org/10.1001/archneur.63.9.1257DOI Listing
September 2006

Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

Brain 2006 Mar 9;129(Pt 3):686-94. Epub 2006 Jan 9.

INSERM U679, Neurologie et Thérapeutique Expérimentale, CHU Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/awl005DOI Listing
March 2006

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

Ann Neurol 2005 Nov;58(5):784-7

Institut National de la Sante et de la Recherche Médicale U679 (formerly U289), Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris.

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http://dx.doi.org/10.1002/ana.20636DOI Listing
November 2005

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

Arch Neurol 2004 Aug;61(8):1242-8

INSERM U289, Institut Fédératif de Recherche en Neuroscience, Assistance Publique Hôpitaux de Paris, Hôpital de al Salpêtrière, Paris, France.

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http://dx.doi.org/10.1001/archneur.61.8.1242DOI Listing
August 2004

Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.

Arch Neurol 2003 Sep;60(9):1253-6

Institut National de la Santé et de la Recherche Médicale, Unit 289, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.

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http://dx.doi.org/10.1001/archneur.60.9.1253DOI Listing
September 2003

Complex relationship between Parkin mutations and Parkinson disease.

Am J Med Genet 2002 Jul;114(5):584-91

Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA.

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http://doi.wiley.com/10.1002/ajmg.10525
Publisher Site
http://dx.doi.org/10.1002/ajmg.10525DOI Listing
July 2002