Lohmann, Ebba : rechercher sur Z-Library

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1

How much phenotypic variation can be attributed to parkin genotype?

Ebba Lohmann, Magali Periquet, Vincenzo Bonifati, Nick W. Wood, Giuseppe De Michele, Anne-Marie Bonnet, Valérie Fraix, Emmanuel Broussolle, Martin W. I. M. Horstink, Marie Vidailhet, Patrice Verpillat

Journal:

Annals of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 194 KB

english, 2003

2

Exome sequencing in a family with restless legs syndrome

Weissbach, Anne, Siegesmund, Katharina, Brüggemann, Norbert, Schmidt, Alexander, Kasten, Meike, Pichler, Irene, Muhle, Hiltrud, Lohmann, Ebba, Lohnau, Thora, Schwinger, Eberhard, Hagenah, Johann, Step

Journal:

Movement Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 158 KB

english, 2012

3

Serum TNF alpha levels elevated in early and late-onset Alzheimer's disease but not in mild cognitive impairment

Alaylioglu, Merve, Gezen-Ak, Duygu, Dursun, Erdinc, Hanagasi, Hasmet, Bilgiç, Basar, Lohmann, Ebba, Araz, Omur Selin, Atasoy, Irem Lutfiye, Önal, Burak, Gurvit, Hakan, Yilmazer, Selma

Journal:

Alzheimer's & Dementia

Année:

2013

Langue:

english

Fichier:

PDF, 79 KB

english, 2013

4

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

Dursun, Erdinç, Gezen-Ak, Duygu, Hanağası, Haşmet, Bilgiç, Başar, Lohmann, Ebba, Ertan, Sibel, Atasoy, İrem L., Alaylıoğlu, Merve, Araz, Ömür Selin, Önal, Burak, Gündüz, Ayşegül, Apaydın, Hülya, Kızıl

Journal:

Journal of Neuroimmunology

Année:

2015

Langue:

english

Fichier:

PDF, 784 KB

english, 2015

5

Complex relationship between Parkin mutations and Parkinson disease

Andrew West, Magali Periquet, Sarah Lincoln, Christoph B. Lücking, David Nicholl, Vincenzo Bonifati, Nina Rawal, Thomas Gasser, Ebba Lohmann, Jean-François Deleuze, Demetrius Maraganore, Allan Levey,

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 96 KB

english, 2002

6

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

Suzanne Lesage, Pablo Ibanez, Ebba Lohmann, Pierre Pollak, François Tison, Myriem Tazir, Anne-Louise Leutenegger, Joao Guimaraes, Anne-Marie Bonnet, Yves Agid, Alexandra Dürr, Alexis Brice

Journal:

Annals of Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 79 KB

english, 2005

7

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

Suzanne Lesage, Periquet Magali, Ebba Lohmann, Lucette Lacomblez, Helio Teive, Sabine Janin, Pierre-Yves Cousin, Alexandra Dürr, Alexis Brice

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 210 KB

english, 2007

8

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

Michael Schüpbach, Ebba Lohmann, Mathieu Anheim, Suzanne Lesage, Virginie Czernecki, Sadek Yaici, Yulia Worbe, Perrine Charles, Marie-Laure Welter, Pierre Pollak, Alexandra Dürr, Yves Agid, Alexis Bri

Journal:

Movement Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 55 KB

english, 2007

9

Are parkin patients particularly suited for deep-brain stimulation?

Ebba Lohmann, Marie-Laure Welter, Valérie Fraix, Paul Krack, Suzanne Lesage, Sophie Laine, Marie-Laure Tanguy, Jean-Luc Houeto, Valérie Mesnage, Pierre Pollak, Alexandra Durr, Yves Agid, Alexis Brice

Journal:

Movement Disorders

Année:

2008

Langue:

english

Fichier:

PDF, 64 KB

english, 2008

10

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

Nadège Limousin, Eric Konofal, Elias Karroum, Ebba Lohmann, Ioannis Theodorou, Alexandra Dürr, Isabelle Arnulf

Journal:

Movement Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 96 KB

english, 2009

11

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

Rita João Guerreiro, Ebba Lohmann, Emma Kinsella, José Miguel Brás, Nga Luu, Nicole Gurunlian, Burcu Dursun, Basar Bilgic, Isabel Santana, Hasmet Hanagasi, Hakan Gurvit, Jesse Raphael Gibbs, Catarina

Journal:

Neurobiology of Aging

Année:

2012

Langue:

english

Fichier:

PDF, 731 KB

english, 2012

12

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

Ebba Lohmann, Rita J. Guerreiro, Nihan Erginel-Unaltuna, Nicole Gurunlian, Basar Bilgic, Hakan Gurvit, Hasmet A. Hanagasi, Nga Luu, Murat Emre, Andrew Singleton

Journal:

Neurobiology of Aging

Année:

2012

Langue:

english

Fichier:

PDF, 754 KB

english, 2012

13

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

Suzanne Lesage, Christel Condroyer, Stephan Klebe, Ebba Lohmann, Franck Durif, Philippe Damier, François Tison, Mathieu Anheim, Aurélie Honoré, François Viallet, Anne-Marie Bonnet, Anne-Marie Ouvrard-

Journal:

Neurobiology of Aging

Année:

2012

Fichier:

PDF, 384 KB

2012

14

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

Ebba Lohmann, Laurence Leclere, Francesca De Anna, Suzanne Lesage, Bruno Dubois, Yves Agid, Alexandra Dürr, Alexis Brice

Journal:

Parkinsonism & Related Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 134 KB

english, 2009

15

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

Ebba Lohmann, Çiğdem Köroğlu, Hasmet A. Hanagasi, Burcu Dursun, Erşan Taşan, Aslıhan Tolun

Journal:

Parkinsonism & Related Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 119 KB

english, 2012

16

Differentiating symptomatic Parkin mutations carriers from patients with idiopathic Parkinson’s disease: Contribution of automated segmentation neuroimaging method

Basar Bilgic, Ali Bayram, Ali Bilgin Arslan, Hasmet Hanagasi, Burcu Dursun, Hakan Gurvit, Murat Emre, Ebba Lohmann

Journal:

Parkinsonism & Related Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 138 KB

english, 2012

17

LRRK2 Haplotype Analyses in European and North African Families with Parkinson Disease: A Common Founder for the G2019S Mutation Dating from the 13th Century

Suzanne Lesage, Anne-Louise Leutenegger, Pablo Ibanez, Sabine Janin, Ebba Lohmann, Alexandra Dürr, Alexis Brice

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 765 KB

english, 2005

18

Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

Guerreiro, Rita João, Lohmann, Ebba, Brás, José Miguel, Gibbs, Jesse Raphael, Rohrer, Jonathan D., Gurunlian, Nicole, Dursun, Burcu, Bilgic, Basar, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat, Single

Journal:

Archives of Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 498 KB

english, 2012

19

Recognizing genetic forms of parkinsonism

Journal:

Neurodegenerative Disease Management

Année:

2013

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2013

20

A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family

Guerreiro, Rita, Bilgic, Basar, Guven, Gamze, Brás, José, Rohrer, Jonathan, Lohmann, Ebba, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat

Journal:

Neurobiology of Aging

Année:

2013

Langue:

english

Fichier:

PDF, 654 KB

english, 2013

21

Unusual variability of PRRT2 linked phenotypes within a family

Brueckner, Frieder, Kohl, Bernhard, Puest, Burkhard, Gassner, Silke, Osseforth, Judith, Lindenau, Matthias, Stodieck, Stefan, Biskup, Saskia, Lohmann, Ebba

Journal:

European Journal of Paediatric Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 288 KB

english, 2014

22

Frontal white matter hyperintensities correlate with depressive symptoms and functionality in mild Alzheimer's patients

Bilgic, Basar, Bayram, Ali, Alpsan, Hale, Tumac, Ayfer, Hanagasi, Hasmet, Sahin, Huseyin, Lohmann, Ebba, Emre, Murat, Gurvit, Hakan

Journal:

Alzheimer's & Dementia

Année:

2011

Langue:

english

Fichier:

PDF, 264 KB

english, 2011

23

5198351 Lactose hydrolysis by mutant streptococcus thermophilus

Bilgic, Basar, Bayram, Ali, Alpsan, Hale, Tumac, Ayfer, Hanagasi, Hasmet, Sahin, Huseyin, Lohmann, Ebba, Emre, Murat, Gurvit, Hakan

Journal:

Biotechnology Advances

Année:

1994

Langue:

english

Fichier:

PDF, 64 KB

english, 1994

24

Association between vitamin D binding protein (VDBP) haplotype and late-onset Alzheimer's disease

Araz, Omur Selin, Dursun, Erdinc, Gezen-Ak, Duygu, Hanagasi, Hasmet, Bilgiç, Basar, Lohmann, Ebba, Ertan, Turan, Gurvit, Hakan, Eker, Engin, Emre, Murat, Yilmazer, Selma

Journal:

Alzheimer's & Dementia

Année:

2013

Langue:

english

Fichier:

PDF, 50 KB

english, 2013

25

P3-159

Rademakers, Rosa, Sleegers, Kristel, Pals, Philippe, Nuytemans, Karen, Lohmann, Ebba, Durr, Alexandra, Engelborghs, Sebastiaan, de Pooter, Tim, Van den Broeck, Marleen, Pickut, Barbara, Cruts, Marc, D

Journal:

Alzheimer's & Dementia

Année:

2006

Langue:

english

Fichier:

PDF, 71 KB

english, 2006

26

LRRK2 G2019S as a Cause of Parkinson's Disease in North African Arabs

Lesage, Suzanne, Dürr, Alexandra, Tazir, Meriem, Lohmann, Ebba, Leutenegger, Anne-Louise, Janin, Sabine, Pollak, Pierre, Brice, Alexis

Journal:

Boston Medical and Surgical Journal

Année:

2006

Langue:

english

Fichier:

PDF, 136 KB

english, 2006

27

Clinical variability in ataxia–telangiectasia

Lohmann, Ebba, Krüger, Stefanie, Hauser, Ann-Kathrin, Hanagasi, Hasmet, Guven, Gamze, Erginel-Unaltuna, Nihan, Biskup, Saskia, Gasser, Thomas

Journal:

Journal of Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 357 KB

english, 2015

28

The Impact of Familial Structure on Parkinson's Disease in Istanbul Medical School, Turkey

Lohmann, Ebba, Hanağası, Haşmet A., Gürvit, Hakan, Kayacı, Günes, Ruberg, Merle, Yazıcı, Jale, Emre, Murat

Journal:

International Journal of Neuroscience

Année:

2012

Langue:

english

Fichier:

PDF, 117 KB

english, 2012

29

Coding Polymorphisms in the Parkin Gene and Susceptibility to Parkinson Disease

Lücking, Christoph-Burkhard, Chesneau, Véronique, Lohmann, Ebba, Verpillat, Patrice, Dulac, Cyprien, Bonnet, Anne-Marie, Gasparini, Francesca, Agid, Yves, Dürr, Alexandra, Brice, Alexis

Journal:

Archives of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 80 KB

english, 2003

30

Rapid Eye Movement Sleep Disturbances in Huntington Disease

Arnulf, Isabelle, Nielsen, Jørgen, Lohmann, Ebba, Schieffer, Johannes, Wild, Edward, Jennum, Poul, Konofal, Eric, Walker, Matthew, Oudiette, Delphine, Tabrizi, Sarah, Durr, Alexandra

Journal:

Archives of Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 125 KB

english, 2008

31

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

Lohmann, Ebba, Coquel, Anne-Sophie, Honoré, Aurélie, Gurvit, Hakan, Hanagasi, Hasmet, Emre, Murat, Leutenegger, Anne L., Drouet, Valérie, Sahbatou, Mourad, Guven, Gamze, Erginel-Unaltuna, Nihan, Deleu

Journal:

Movement Disorders

Année:

2015

Langue:

english

Fichier:

PDF, 321 KB

english, 2015

32

Juvenile-Onset Parkinsonism as a Result of the First Mutation in the Adenosine Triphosphate Orientation Domain of PINK1

Leutenegger, Anne-Louise, Salih, Mustafa A. M., Ibáñez, Pablo, Mukhtar, Maowia M., Lesage, Suzanne, Arabi, Ali, Lohmann, Ebba, Dürr, Alexandra, Ahmed, Ammar E. M., Brice, Alexis

Journal:

Archives of Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 126 KB

english, 2006

33

Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

Guerreiro, Rita João, Lohmann, Ebba, Brás, José Miguel, Gibbs, Jesse Raphael, Rohrer, Jonathan D., Gurunlian, Nicole, Dursun, Burcu, Bilgic, Basar, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat, Single

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 504 KB

english, 2013

34

Frequency of the LRRK2 G2019S Mutation in Siblings with Parkinson’s Disease

Lesage, Suzanne, Leclere, Laurence, Lohmann, Ebba, Borg, Michel, Ruberg, Merle, D&uuml, rr, Alexandra, Brice, Alexis

Journal:

Neurodegenerative Diseases

Année:

2007

Langue:

english

Fichier:

PDF, 100 KB

english, 2007

35

Compromised regulation of serum cytokine levels and BDNF due to low levels of vitamin d in patients with early- or late-onset Alzheimer’s disease or parkinson’s disease

Gezen-Ak, Duygu, Bilgiç, Başar, Hanağası, Haşmet, Ertan, Sibel, Lohmann, Ebba, Atasoy, Irem L., Alaylıoğlu, Merve, Araz, Ömür S., Önal, Burak, Gündüz, Ayşegül, Kızıltan, Güneş, Apaydın, Hülya, Gurvit,

Journal:

Alzheimer's & Dementia

Année:

2015

Langue:

english

Fichier:

PDF, 127 KB

english, 2015

36

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

Hanagasi, Hasmet A., Giri, Anamika, Guven, Gamze, Bilgiç, Başar, Hauser, Ann-Kathrin, Emre, Murat, Heutink, Peter, Basak, Nazlı, Gasser, Thomas, Simón-Sánchez, Javier, Lohmann, Ebba

Journal:

Parkinsonism & Related Disorders

Année:

2016

Langue:

english

Fichier:

PDF, 484 KB

english, 2016

37

Serum interleukin 1 alpha and alpha 2 macroglobulin levels in patients with early- or late-onset Alzheimer’s disease or mild cognitive impairment

Atasoy, Irem L., Dursun, Erdinc, Gezen-Ak, Duygu, Hanağası, Haşmet, Bilgiç, Başar, Lohmann, Ebba, Ertan, Sibel, Alaylıoğlu, Merve, Araz, Ömür S., Önal, Burak, Gündüz, Ayşegül, Kızıltan, Güneş, Apaydın

Journal:

Alzheimer's & Dementia

Année:

2015

Langue:

english

Fichier:

PDF, 48 KB

english, 2015

38

MAPT MUTATION CAUSING RIGHT TEMPORAL VARIANT SEMANTIC DEMENTIA

Gurvit, Hakan, Lohmann, Ebba, Guerreiro, Rita

Journal:

Alzheimer's & Dementia

Année:

2014

Langue:

english

Fichier:

PDF, 55 KB

english, 2014

39

NEUROIMAGING FINDINGS OF NASU-HAKOLA DISEASE

Bilgic, Basar, Gelisin, Ozlem, Guerreiro, Rita, Lohmann, Ebba, Hanagasi, Hasmet Ayhan, Gurvit, Hakan, Emre, Murat

Journal:

Alzheimer's & Dementia

Année:

2014

Langue:

english

Fichier:

PDF, 118 KB

english, 2014

40

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

Dursun, Erdinç, Alaylıoğlu, Merve, Bilgiç, Başar, Hanağası, Haşmet, Lohmann, Ebba, Atasoy, Irem L., Candaş, Esin, Araz, Ömür Selin, Önal, Burak, Gürvit, Hakan, Yılmazer, Selma, Gezen-Ak, Duygu

Journal:

Neurological Sciences

Année:

2016

Langue:

english

Fichier:

PDF, 769 KB

english, 2016

41

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

Kessler, Christoph, Atasu, Burcu, Hanagasi, Hasmet, Simón-Sánchez, Javier, Hauser, Ann-Kathrin, Pak, Meltem, Bilgic, Basar, Erginel-Unaltuna, Nihan, Gurvit, Hakan, Gasser, Thomas, Lohmann, Ebba

Journal:

Parkinsonism & Related Disorders

Année:

2017

Langue:

english

Fichier:

PDF, 347 KB

english, 2017

42

GENETIC CHARACTERIZATION OF A TURKISH DEMENTIA COHORT: FOCUS ON TYROBP

Carmona, Susana, Guven, Gamze, Lohmann, Ebba, Singleton, Andrew, Hardy, John, Bras, Jose T., Guerreiro, Rita

Journal:

Alzheimer's & Dementia

Année:

2017

Langue:

english

Fichier:

PDF, 346 KB

english, 2017

43

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

Brownjohn, Philip W., Smith, James, Solanki, Ravi, Lohmann, Ebba, Houlden, Henry, Hardy, John, Dietmann, Sabine, Livesey, Frederick J.

Journal:

Stem Cell Reports

Année:

2018

Langue:

english

Fichier:

PDF, 2.96 MB

english, 2018

44

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

Guven, Gamze, Lohmann, Ebba, Bras, Jose, Gibbs, J. Raphael, Gurvit, Hakan, Bilgic, Basar, Hanagasi, Hasmet, Rizzu, Patrizia, Heutink, Peter, Emre, Murat, Erginel-Unaltuna, Nihan, Just, Walter, Hardy,

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 2.43 MB

english, 2016

45

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

Lohmann, Ebba, Gasser, Thomas, Grundmann, Kathrin

Journal:

Frontiers in Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 190 KB

english, 2017

46

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

Atasu, Burcu, Hanagasi, Hasmet, Bilgic, Basar, Pak, Meltem, Erginel-Unaltuna, Nihan, Hauser, Ann-Kathrin, Guven, Gamze, Simón-Sánchez, Javier, Heutink, Peter, Gasser, Thomas, Lohmann, Ebba

Journal:

Movement Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 313 KB

english, 2018

47

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

Guven, Gamze, Vurgun, Eren, Bilgic, Basar, Hanagasi, Hasmet, Gurvit, Hakan, Ozer, Ebru, Lohmann, Ebba, Erginel-Unaltuna, Nihan

Journal:

Molecular Biology Reports

Année:

2019

Fichier:

PDF, 812 KB

2019

48

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

Pogoda, Michaela, Hilke, Franz-Joachim, Lohmann, Ebba, Sturm, Marc, Lenz, Florian, Matthes, Jakob, Muyas, Francesc, Ossowski, Stephan, Hoischen, Alexander, Faust, Ulrike, Sepahi, Ilnaz, Casadei, Nicol

Journal:

Frontiers in Neurology

Année:

2019

Langue:

english

Fichier:

PDF, 289 KB

english, 2019

49

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

Pogoda, Michaela, Hilke, Franz-Joachim, Lohmann, Ebba, Sturm, Marc, Lenz, Florian, Matthes, Jakob, Muyas, Francesc, Ossowski, Stephan, Hoischen, Alexander, Faust, Ulrike, Sepahi, Ilnaz, Casadei, Nicol

Journal:

Frontiers in Neurology

Année:

2019

Fichier:

PDF, 289 KB

2019

50

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

Yunisova, Gulshan, Tufekcioglu, Zeynep, Dogu, Okan, Bilgic, BaÅar, Kaleagasi, Hakan, AkcaÂ Kalem, Sukriye, Lohmann, Ebba, Gurvit, HakanÂ I., Emre, Murat, Hanagasi, HasmetÂ A.

Journal:

Neurodegenerative Diseases

Année:

2020

Fichier:

PDF, 395 KB

2020