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1

High creatine kinase levels and white matter changes: Clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency

Beytía, Maria de los Angeles, Dekomien, Gabriele, Hoffjan, Sabine, Haug, Verena, Anastasopoulos, Constantin, Kirschner, Janbernd

Journal:

Molecular and Cellular Probes

Year:

2014

Language:

english

File:

PDF, 903 KB

english, 2014

2

Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression

Schröder, Nicolas W.J., Grieben, Ulrike, Prokop, Stefan, Dekomien, Gabriele, Epplen, Jörg T., Heppner, Frank. L., Goebel, Hans H., Stenzel, Werner

Journal:

Year:

2014

Language:

english

File:

PDF, 169 KB

english, 2014

3

Muscle pain in myophosphorylase deficiency (McArdle’s disease): The role of gender, genotype, and pain-related coping

Oliver Rommel, Rudolf A. Kley, Gabriele Dekomien, Jörg T. Epplen, Matthias Vorgerd, Monika Hasenbring

Journal:

Year:

2006

Language:

english

File:

PDF, 248 KB

english, 2006

4

Exclusion of the PDE6A gene for generalised progressive retinal atrophy in 11 breeds of dog

G Dekomien, J T Epplen

Journal:

Animal Genetics

Year:

2000

Language:

english

File:

PDF, 67 KB

english, 2000

5

G.P.10.02 Does δ-sarcoglycan-associated autosomal dominant cardiomyopathy exist?

A. Sarkozy, R. Bauer, J. Hudson, H.D. Müller, C. Sommer, G. Dekomien, J. Bourke, D. Routledge, K. Bushby, J. Klepper, V. Straub

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

6

Substrate deprivation therapy in juvenile Sandhoff disease

Wortmann, S. B., Lefeber, D. J., Dekomien, G., Willemsen, M. A. A. P., Wevers, R. A., Morava, E.

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 185 KB

english, 2009

7

Inclusion Body Myositis mit Morbus Paget und frontotemporaler Demenz: frühe Beteiligung des Herzens und der Atemmuskulatur

Ponfick, M., Ludolph, A., Dekomien, G., Uttner, I., Kassubek, J., Gdynia, H.-J.

Journal:

Fortschritte der Neurologie · Psychiatrie

Year:

2012

File:

PDF, 188 KB

2012

8

P.P.6 10 Sarcoglycanopathy – Can immunoanalyses accurately predict the genotype?

R. Charlton, L. Klinge, G. Dekomien, J.T. Epplen, K. Bushby, V. Straub

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

9

Registrierung von intraoperativem 3D-Ultraschall mit präoperativen MRT-Daten für die computergestützte orthopädische Chirurgie

Winter, S., Dekomien, C., Hensel, K., Hold, S., Schmitz, G., Teske, W.

Journal:

Zeitschrift für Orthopädie

Year:

2007

File:

PDF, 192 KB

2007

10

Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients

Türk, Matthias, Schröder, Rolf, Khuller, Katharina, Hofmann, Andreas, Berwanger, Carolin, Ludolph, Albert C., Dekomien, Gabriele, Müller, Kathrin, Weishaupt, Jochen H., Thiel, Christian T., Clemen, Ch

Journal:

Neurobiology of Aging

Year:

2017

Language:

english

File:

PDF, 248 KB

english, 2017

11

Evaluation of ROM1 as a candidate gene in generalised progressive retinal atrophy in dogs

W. Klein, G. Dekomien, N. Holmes, J. T. Epplen

Journal:

Animal Genetics

Year:

1998

Language:

english

File:

PDF, 51 KB

english, 1998

12

Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

Bauer, Ralf, Hudson, Judith, Müller, Harald D, Sommer, Clemens, Dekomien, Gabriele, Bourke, John, Routledge, Daniel, Bushby, Kate, Klepper, Jörg, Straub, Volker

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 188 KB

english, 2009

13

Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?

Lars Klinge, Gabriele Dekomien, Ahmed Aboumousa, Richard Charlton, Jörg T. Epplen, Rita Barresi, Kate Bushby, Volker Straub

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 355 KB

english, 2008

14

System architecture for intraoperative ultrasound registration in image-based medical navigation

Dekomien, Claudia, Roeschies, Benjamin, Winter, Susanne

Journal:

Biomedical Engineering/ Biomedizinische Technik

Year:

2012

Language:

english

File:

PDF, 807 KB

english, 2012

15

Long- and short-haired Weimaraner dogs represent two populations of one breed

Tanja Schrameyer, Gabriele Dekomien, Sandra M.Pasternack, Benedikt S. Reinartz, Eduardo J. M. Santos, Jörg T. Epplen

Journal:

ELECTROPHORESIS

Year:

2005

Language:

english

File:

PDF, 72 KB

english, 2005

16

A Tale of Two Patients With Mendelian Hypertension

Quack, I., Vonend, O., Sellin, L., Stegbauer, J., Dekomien, G., Rump, L. C.

Journal:

Year:

2008

Language:

english

File:

PDF, 397 KB

english, 2008

17

A German family with glucocorticoid-remediable aldosteronism

Vonend, O., Altenhenne, C., Buchner, N. J., Dekomien, G., Maser-Gluth, C., Weiner, S. M., Sellin, L., Hofebauer, S., Epplen, J. T., Rump, L. C.

Journal:

Nephrology Dialysis Transplantation

Year:

2007

Language:

english

File:

PDF, 668 KB

english, 2007

18

A large deletion inRPGRcauses XLPRA in Weimaraner dogs

Kropatsch, Regina, Akkad, Denis A., Frank, Matthias, Rosenhagen, Carsten, Altmüller, Janine, Nürnberg, Peter, Epplen, Jörg T., Dekomien, Gabriele

Journal:

Canine Genetics and Epidemiology

Year:

2016

Language:

english

File:

PDF, 936 KB

english, 2016

19

Ccdc66 null mutation causes retinal degeneration and dysfunction

Gerding, W. M., Schreiber, S., Schulte-Middelmann, T., de Castro Marques, A., Atorf, J., Akkad, D. A., Dekomien, G., Kremers, J., Dermietzel, R., Gal, A., Rulicke, T., Ibrahim, S., Epplen, J. T., Petr

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 677 KB

english, 2011

20

Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1

Dringenberg, T., Sorokina, M., Ehlers, M., Dekomien, G., Haase, M., Schulze, E., Quinkler, M., Rump, L., Schott, M., Willenberg, H.

Journal:

Hormone and Metabolic Research

Year:

2016

Language:

english

File:

PDF, 271 KB

english, 2016

21

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes

Aydin, Gülsah, Dekomien, Gabriele, Hoffjan, Sabine, Gerding, Wanda Maria, Epplen, Jörg T., Arning, Larissa

Journal:

Year:

2018

Language:

english

File:

PDF, 496 KB

english, 2018

22

Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts

A. M. Schlitter, M. Kurz, J. P. Larsen, D. Woitalla, T. Müller, J. T. Epplen, G. Dekomien

Journal:

Acta Neurologica Scandinavica

Year:

2006

Language:

english

File:

PDF, 102 KB

english, 2006

23

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene

Regina Kropatsch, Elisabeth Petrasch-Parwez, Dominik Seelow, Annegrit Schlichting, Wanda M. Gerding, Denis A. Akkad, Joerg T. Epplen, Gabriele Dekomien

Journal:

Molecular and Cellular Probes

Year:

2010

Language:

english

File:

PDF, 934 KB

english, 2010

24

Species-level differentiation of two cryptic species pairs of wild cavies, genera Cavia and Galea , with a discussion of the relationship between social systems and phylogeny in the Caviinae

Trillmich, Fritz, Kraus, Cornelia, Künkele, Joachim, Asher, Matthias, Clara, Mario, Dekomien, Gabriele, Epplen, Jörg T, Saralegui, Alvaro, Sachser, Norbert

Journal:

Canadian Journal of Zoology

Year:

2004

File:

PDF, 432 KB

2004

25

Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene

Dekomien, G., Runte, M., G&ouml, dde, R., Epplen, J.T.

Journal:

Cytogenetic and Genome Research

Year:

2000

Language:

english

File:

PDF, 310 KB

english, 2000

26

Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia

Schubert, Sarah F., Hoffjan, Sabine, Dekomien, Gabriele

Journal:

Molecular and Cellular Probes

Year:

2015

Language:

english

File:

PDF, 512 KB

english, 2015

27

Tracing the origin of ‘blue Weimaraner’ dogs by molecular genetics

W.M. Gerding, S. Schreiber, G. Dekomien, J.T. Epplen

Journal:

Journal of Animal Breeding and Genetics

Year:

2011

Language:

english

File:

PDF, 246 KB

english, 2011

28

P03.9 Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (with laminin alpha-2-deficiency)

C. Koehler, C. Malte Heyer, C. Thiels, K. Weigt-Usinger, G. Dekomien, T. Lücke, M. Vorgerd

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 35 KB

english, 2011

29

Rapid genetic diversification within dog breeds as evidenced by a case study on Schnauzers

K. Streitberger, M. Schweizer, R. Kropatsch, G. Dekomien, O. Distl, M. S. Fischer, J. T. Epplen, S. T. Hertwig

Journal:

Animal Genetics

Year:

2012

Language:

english

File:

PDF, 387 KB

english, 2012

30

Pancreatitis in Primary Hyperparathyroidism-related Hypercalcaemia is not Associated with Mutations in the CASR Gene

Felderbauer, P., Karakas, E., Fendrich, V., Bulut, K., Werner, I., Dekomien, G., Klein, W., Bartsch, D., Schmidt, W.

Journal:

Experimental and Clinical Endocrinology & Diabetes

Year:

2007

Language:

english

File:

PDF, 102 KB

english, 2007

31

Registrierung von intraoperativem 3D-Ultraschall mit präoperativen MRT-Daten für die computergestützte orthopädische Chirurgie

Winter, S., Dekomien, C., Hensel, K., Hold, S., Schmitz, G., Teske, W.

Journal:

Zeitschrift für Orthopädie

Year:

2007

File:

PDF, 192 KB

2007

32

Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance

M Runte, G Dekomien, J T Epplen

Journal:

Animal Genetics

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

33

Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identifiedCCDC66gene

Gabriele Dekomien, Conni Vollrath, Elisabeth Petrasch-Parwez, Michael H. Boevé, Denis A. Akkad, Wanda M. Gerding, Jörg T. Epplen

Journal:

Year:

2010

Language:

english

File:

PDF, 541 KB

english, 2010

34

Sperm transfer and paternity in the scorpionflyPanorpa cognata: large variance in traits favoured by post-copulatory episodes of sexual selection

Leif Engqvist, Gabriele Dekomien, Tanja Lippmann, Jörg T. Epplen, Klaus P. Sauer

Journal:

Evolutionary Ecology

Year:

2007

Language:

english

File:

PDF, 296 KB

english, 2007

35

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype

Delnooz, C. C. S., Lefeber, D. J., Langemeijer, S. M. C., Hoffjan, S., Dekomien, G., Zwarts, M. J., Van Engelen, B. G. M., Wevers, R. A., Schelhaas, H. J., van de Warrenburg, B. P. C.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2010

Language:

english

File:

PDF, 176 KB

english, 2010

36

Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay

Verena Wildförster, Gabriele Dekomien

Journal:

Molecular and Cellular Probes

Year:

2009

Language:

english

File:

PDF, 294 KB

english, 2009

37

Screening of thearrestingene in dogs afflicted with generalized progressive retinal atrophy

Gabriele Dekomien, Jörg Thomas Epplen

Journal:

Year:

2002

Language:

english

File:

PDF, 238 KB

english, 2002

38

FMR1 Alleles in Parkinson's Disease: Relation to Cognitive Decline and Hallucinations, A Longitudinal Study

Kurz, M. W., Melissa Schlitter, A., Klenk, Y., Mueller, T., Larsen, J. P., Aarsland, D., Dekomien, G.

Journal:

Journal of Geriatric Psychiatry and Neurology

Year:

2007

Language:

english

File:

PDF, 82 KB

english, 2007

39

APOE Alleles in Parkinson Disease and Their Relationship to Cognitive Decline: A Population-based, Longitudinal Study

Kurz, M. W., Dekomien, G., Nilsen, O. B., Larsen, J. P., Aarsland, D., Alves, G.

Journal:

Journal of Geriatric Psychiatry and Neurology

Year:

2009

Language:

english

File:

PDF, 112 KB

english, 2009

40

Sporadic solitary aldosterone- and cortisol-co-secreting adenomas: endocrine, histological and genetic findings in a subtype of primary aldosteronism

Willenberg, Holger S, Späth, Martin, Maser-Gluth, Christiane, Engers, Rainer, Anlauf, Martin, Dekomien, Gabriele, Schott, Matthias, Schinner, Sven, Cupisti, Kenko, Scherbaum, Werner A

Journal:

Hypertension Research

Year:

2010

Language:

english

File:

PDF, 504 KB

english, 2010

41

LAMA2-related congenital muscular dystrophy complicated by West syndrome

Camacho, Ana, Núñez, Noemí, Dekomien, Gabriele, Hernández-Laín, Aurelio, de Aragón, Ana Martínez, Simón, Rogelio

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

42

Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease

Prejbisz, Aleksander, Sellin, Lorenz, Szwench-Pietrasz, Elżbieta, Woznowski, Magdalena, Michałowska, Ilona, Blondin, Dirk, Sajnaga, Dariusz, Epplen, Jorg T, Litwin, Mieczysław, Dekomien, Gabriele, Jan

Journal:

Kidney International

Year:

2015

Language:

english

File:

PDF, 1.10 MB

english, 2015

43

Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature

Dusanic, Maja, Dekomien, Gabriele, Lücke, Thomas, Vorgerd, Matthias, Weis, Joachim, Epplen, Joerg T., Köhler, Cornelia, Hoffjan, Sabine

Journal:

Molecular Syndromology

Year:

2018

Language:

english

File:

PDF, 456 KB

english, 2018

44

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature

Hoffjan, Sabine, Ibisler, Aysegül, Tschentscher, Anne, Dekomien, Gabriele, Bidinost, Carla, Rosa, Alberto L.

Journal:

Molecular and Cellular Probes

Year:

2016

Language:

english

File:

PDF, 1020 KB

english, 2016

45

Electrophoresis of DNA in human genetic diagnostics – state-of-the-art, alternatives and future prospects

René Gödde, Denis-Amer Akkad, Larissa Arning, Gabriele Dekomien, Julia Herchenbach, Erdmute Kunstmann, Moritz Meins, Stefan Wieczorek, Jörg T. Epplen, Sabine Hoffjan

Journal:

ELECTROPHORESIS

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

46

Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs

Tanja Lippmann, Sandra M Pasternack, Britta Kraczyk, Sabine E Dudek, Gabriele Dekomien

Journal:

Journal of Negative Results in BioMedicine

Year:

2006

Language:

english

File:

PDF, 495 KB

english, 2006

47

Progressive external ophthalmoplegia as initial manifestation of sporadic late-onset nemaline myopathy

Oliver Wengert, Andreas Meisel, Wolfram Kress, Gabriele Dekomien, Klemens Angstwurm, Frank L. Heppner, Hans-Hilmar Goebel, Werner Stenzel

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 279 KB

english, 2011

48

C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy

K. Spengos, M. C. Walter, G. Dekomien, K. Papadopoulos, H. Lochmüller, P. Manta

Journal:

European Journal of Neurology

Year:

2010

Language:

english

File:

PDF, 58 KB

english, 2010

49

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families

Kastner, Simone, Thiemann, Ina-Janine, Dekomien, Gabriele, Petrasch-Parwez, Elisabeth, Schreiber, Sabrina, Akkad, Denis A., Gerding, Wanda M., Hoffjan, Sabine, Günes, Sezgin, Günes, Selçuk, Bagci, Has

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 956 KB

english, 2015

50

Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo)

W. M. Blaszczyk, C. Distler, G. Dekomien, L. Arning, K.-P. Hoffmann, J. T. Epplen

Journal:

Animal Genetics

Year:

2007

Language:

english

File:

PDF, 580 KB

english, 2007

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