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1

Den digitalen Kundenservice bewerten lernen

Roman Senderek,Roman Emonts-Holley,Philipp Jussen

Journal:

Controlling & Management Review

Year:

2016

Language:

german

File:

PDF, 245 KB

german, 2016

2

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Fabian Küpper, Frank Schneider, Christian Dornia, Ellen Windelen, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Laszlo Furu, Luiz F. Onuchic, Sandro Rossett

Journal:

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

3

Social-Media-Controlling implementieren

Roman Emonts-Holley,Roman Senderek

Journal:

Controlling & Management Review

Year:

2016

Language:

german

File:

PDF, 132 KB

german, 2016

4

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Fabian Küpper, Christian Dornia, Frank Schneider, Jan Senderek, Klaus Zerres

Journal:

Year:

2005

Language:

english

File:

PDF, 392 KB

english, 2005

5

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

Schabhüttl, Maria, Wieland, Thomas, Senderek, Jan, Baets, Jonathan, Timmerman, Vincent, De Jonghe, Peter, Reilly, Mary M., Stieglbauer, Karl, Laich, Eva, Windhager, Reinhard, Erwa, Wolfgang, Trajanosk

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 278 KB

english, 2014

6

Social Media Readiness

Roman Emonts-Holley,Roman Senderek

Journal:

Controlling & Management Review

Year:

2016

Language:

german

File:

PDF, 160 KB

german, 2016

7

Becker muscular dystrophy combined with x-linked Charcot-Marie-Tooth neuropathy

Carsten Bergmann, Jan Senderek, Benita Hermanns, Anna Jauch, Bart Janssen, J. Michael Schröder, Dieter Karch

Journal:

Year:

2000

Language:

english

File:

PDF, 2.04 MB

english, 2000

8

Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)

Carsten Bergmann, Klaus Zerres, Thomas Peschgens, Jan Senderek, Helmut Hörnchen, Sabine Rudnik-Schöneborn

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 172 KB

english, 2003

9

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Frank Schneider, Christian Dornia, Fabian Küpper, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Markus Moser, Reinhard Büttner, Klaus Zerres

Journal:

Year:

2004

Language:

english

File:

PDF, 163 KB

english, 2004

10

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

K Zerres, J Senderek, S Rudnik-Schöneborn, T Eggermann, J Kunze, T Mononen, H Kääriäinen, J Kirfel, M Moser, R Buettner, C Bergmann

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 703 KB

english, 2004

11

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Bergmann, Carsten, Senderek, Jan, Windelen, Ellen, Kupper, Fabian, Middeldorf, Iris, Schneider, Frank, Dornia, Christian, Rudnik-Schoneborn, Sabine, Konrad, Martin, Schmitt, Claus P., Seeman, Tomas, N

Journal:

Kidney International

Year:

2005

Language:

english

File:

PDF, 497 KB

english, 2005

12

Small Rho GTPases are key regulators of peripheral nerve biology in health and disease

Sven Krause, Claudia Stendel, Jan Senderek, João B. Relvas, Ueli Suter

Journal:

Journal of the Peripheral Nervous System

Year:

2008

Language:

english

File:

PDF, 387 KB

english, 2008

13

Vascular changes in the periosteum of congenital pseudarthrosis of the tibia

Benita Hermanns-Sachweh, Jan Senderek, Joachim Alfer, Bernd Klosterhalfen, Reinhard Büttner, Laszlo Füzesi, Michael Weber

Journal:

Pathology - Research and Practice

Year:

2005

Language:

english

File:

PDF, 848 KB

english, 2005

14

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

Alhaddad, Bader, Schossig, Anna, Haack, Tobias, Kovács-Nagy, Reka, Braunisch, Matthias, Makowski, Christine, Senderek, Jan, Vill, Katharina, Müller-Felber, Wolfgang, Strom, Tim, Krabichler, Birgit, Fr

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 265 KB

english, 2018

15

Antiferroelectric and ferroelectric mesophases created by (S) enantiomers with a short oligomethylene spacer and their usefulness in the formulation of orthoconic mixtures

UrbaÅska, Magdalena, Perkowski, PaweÅ, Morawiak, PrzemysÅaw, Senderek, Magda

Journal:

Journal of Molecular Liquids

Year:

2020

File:

PDF, 3.14 MB

2020

16

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant

Andreas Roos, Miriam Elbracht, Michael Baudis, Jan Senderek, Nadine Schönherr, Thomas Eggermann, Herdit M. Schüler

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 143 KB

english, 2008

17

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

Sabine Rudnik-Schöneborn, Tsutomu Takahashi, Sabine Busse, Thorsten Schmidt, Jan Senderek, Thomas Eggermann, Klaus Zerres

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

18

A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

Markus Moser, Sonja Matthiesen, Jutta Kirfel, Hubert Schorle, Carsten Bergmann, Jan Senderek, Sabine Rudnik-Schöneborn, Klaus Zerres, Reinhard Buettner

Journal:

Year:

2005

Language:

english

File:

PDF, 1.98 MB

english, 2005

19

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Valeska Frank, Anneke I. den Hollander, Nadina Ortiz Brüchle, Marijke N. Zonneveld, Gudrun Nürnberg, Christian Becker, Gabriele Du Bois, Heide Kendziorra, Susanne Roosing, Jan Senderek, Peter Nürnberg

Journal:

Year:

2008

Language:

english

File:

PDF, 328 KB

english, 2008

20

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

Valeska Frank, Nadina Ortiz Brüchle, Silke Mager, Susanna G. M. Frints, Axel Bohring, Gabriele du Bois, Irmgard Debatin, Heide Seidel, Jan Senderek, Nesrin Besbas, Unda Todt, Christian Kubisch, Tiemo

Journal:

Year:

2007

Language:

english

File:

PDF, 452 KB

english, 2007

21

New multiblock poly(ether-ester)s based on poly(trimethylene terephthalate) as rigid segments

A. Szymczyk, E. Senderek, J. Nastalczyk, Z. Roslaniec

Journal:

European Polymer Journal

Year:

2008

Language:

english

File:

PDF, 493 KB

english, 2008

22

Hypertrophic nerve roots in a case of Roussy-Lévy syndrome

C. Haubrich, T. Krings, J. Senderek, S. Züchner, J. Schröder, J. Noth, R. Töpper

Journal:

Year:

2002

Language:

english

File:

PDF, 490 KB

english, 2002

23

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln)

J. Senderek, C. Bergmann, Stefan Quasthoff, Vincent T. Ramaekers, J. M. Schröder

Journal:

Acta Neuropathologica

Year:

1998

Language:

english

File:

PDF, 929 KB

english, 1998

24

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

Carina Fischer, Slave Trajanoski, Lea Papić, Christian Windpassinger, Günther Bernert, Michael Freilinger, Maria Schabhüttl, Mine Arslan-Kirchner, Poupak Javaher-Haghighi, Barbara Plecko, Jan Senderek

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 593 KB

english, 2012

25

Matrix Effects in Magnetic Resonance Spectra of Maghemite Nanoparticles Embedded in PTT-b-PTMO and PEN-b-PTMO Matrices

N. Guskos, M. Maryniak, G. Zolnierkiewicz, J. Typek, A. Guskos, E. Senderek, Z. Roslaniec, D. Petridis

Journal:

Applied Magnetic Resonance

Year:

2008

Language:

english

File:

PDF, 475 KB

english, 2008

26

Light Microscopic, Immunohistochemical, and Ultrastructural Findings in Congenital Fibular Aplasia or Hypoplasia (FAH)

Benita Hermanns-Sachweh, Anne Stemper, Bernd Klosterhalfen, Jan Senderek, Reinhard Büttner, Michael Weber

Journal:

Pediatric and Developmental Pathology

Year:

2005

Language:

english

File:

PDF, 428 KB

english, 2005

27

Functional analysis ofPKHD1splicing in autosomal recessive polycystic kidney disease

Carsten Bergmann, Valeska Frank, Fabian Küpper, Christa Schmidt, Jan Senderek, Klaus Zerres

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 208 KB

english, 2006

28

Mutations of theLMNAgene can mimic autosomal dominant proximal spinal muscular atrophy

Sabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, Jan Senderek, Benedikt G. H. Schoser, Rolf Schröder, Manfred Wehnert, Brunhilde Wirth, Klaus Zerres

Journal:

Year:

2007

Language:

english

File:

PDF, 284 KB

english, 2007

29

A splice-junction mutation in SBF2 gene causes autosomal recessive charcot-marie-tooth disease (CMT4B2) in a family from southern italy

FL Conforti, M Muglia, R Mazzei, P Valentino, A Patitucci, F Bono, A Magariello, T Sprovieri, J Senderek, C Bergmann, R Nisticò, AL Gabriele, G Peluso, A Quattrone

Journal:

Journal of the Peripheral Nervous System

Year:

2004

Language:

english

File:

PDF, 203 KB

english, 2004

30

The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects

C.S. Seitz, M. Van Steensel, J. Frank, J. Senderek, K. Zerres, H. Hamm, C. Bergmann

Journal:

British Journal of Dermatology

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

31

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

AD Funke, M Esser, A Krüttgen, J Weis, M Mitne-Neto, M Lazar, AL Nishimura, AD Sperfeld, P Trillenberg, J Senderek, M Krasnianski, M Zatz, S Zierz, M Deschauer

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 463 KB

english, 2010

32

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

C. Neusch, J. Senderek, T. Eggermann, E. Elolff, M. Bähr, C. Schneider-Gold

Journal:

European Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 567 KB

english, 2007

33

Myotilin is not the Causative Gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM)

Sean M. Garvey, Jan Senderek, Jacques S. Beckmann, Eric Seboun, Charles E. Jackson, Michael A. Hauser

Journal:

Annals of Human Genetics

Year:

2006

Language:

english

File:

PDF, 169 KB

english, 2006

34

Charcot-Marie-Tooth Neuropathy Type 2 and P0 Point Mutations: Two Novel Amino Acid Substitutions (Asp61Gly; Tyr119Cys) and a Possible “Hotspot” on Thr124Met

Jan Senderek, Benita Hermanns, Ute Lehmann, Carsten Bergmann, Georg Marx, Christian Kabus, Vincent Timmerman, Gisela Stoltenburg-Didinger, J. Michael Schröder

Journal:

Brain Pathology

Year:

2000

Language:

english

File:

PDF, 264 KB

english, 2000

35

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Kurth, Ingo, Pamminger, Torsten, Hennings, J Christopher, Soehendra, Désirée, Huebner, Antje K, Rotthier, Annelies, Baets, Jonathan, Senderek, Jan, Topaloglu, Haluk, Farrell, Sandra A

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 524 KB

english, 2009

36

Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Züchner, S, Mersiyanova, I V, Muglia, M, Bissar-Tadmouri, N, Rochelle, J, Dadali, E L, Zappia, M, Nelis, E, Patitucci, A, Senderek, J

Journal:

Nature Genetics

Year:

2004

File:

PDF, 38 KB

2004

37

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Züchner, Stephan, Mersiyanova, Irina V, Muglia, Maria, Bissar-Tadmouri, Nisrine, Rochelle, Julie, Dadali, Elena L, Zappia, Mario, Nelis, Eva, Patitucci, Alessandra, Senderek, Jan

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 437 KB

english, 2004

38

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Senderek, Jan, Krieger, Michael, Stendel, Claudia, Bergmann, Carsten, Moser, Markus, Breitbach-Faller, Nico, Rudnik-Schöneborn, Sabine, Blaschek, Astrid, Wolf, Nicole I, Harting, Inga

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 240 KB

english, 2005

39

RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4

Brüchle, Nadina Ortiz, Frank, Jorge, Frank, Valeska, Senderek, Jan, Akar, Ahmet, Koc, Erol, Rigopoulos, Dimitris, van Steensel, Maurice, Zerres, Klaus, Bergmann, Carsten

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 536 KB

english, 2007

40

Congenital myasthenic syndrome with tubular aggregates caused byGFPT1mutations

Guergueltcheva, Velina, Müller, Juliane S., Dusl, Marina, Senderek, Jan, Oldfors, Anders, Lindbergh, Christopher, Maxwell, Susan, Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 844 KB

english, 2012

41

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Jan Senderek, Sean M. Garvey, Michael Krieger, Velina Guergueltcheva, Andoni Urtizberea, Andreas Roos, Miriam Elbracht, Claudia Stendel, Ivailo Tournev, Violeta Mihailova, Howard Feit, Jeff Tramonte,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.03 MB

english, 2009

42

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva, Irmgard Diepolder, Steven H. Laval, Susan Maxwell, Judy Cossins, Sabine Krause, Nuria Muelas, Juan J. Vilchez, Jaume

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1016 KB

english, 2011

43

Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2

Jutta Kirfel, Jan Senderek, Markus Moser, Anke Röper, Claudia Stendel, Carsten Bergmann, Klaus Zerres, Reinhard Buettner

Journal:

Gene Expression Patterns

Year:

2006

Language:

english

File:

PDF, 618 KB

english, 2006

44

P065 Clinical and genetic heterogeneity in Marinesco Sjögren Syndrome: report of two cases with additional white matter involvement

U. Yis, S. Cirak, J. Senderek, S.H. Kurul, H. Cakmakci, E. Dirik

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 45 KB

english, 2009

45

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

Journal:

Year:

2003

Language:

english

File:

PDF, 258 KB

english, 2003

46

A Novel Neurodevelopmental Syndrome Responsive to 5-Hydroxytryptophan and Carbidopa

V.Th. Ramaekers, J. Senderek, M. Häusler, M. Häring, N. Abeling, K. Zerres, C. Bergmann, G. Heimann, N. Blau

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 1.70 MB

english, 2001

47

Proteasomal inhibition alters the trafficking of the neurotrophin receptor TrkA

T. Moises, S. Wüller, S. Saxena, J. Senderek, J. Weis, A. Krüttgen

Journal:

Biochemical and Biophysical Research Communications

Year:

2009

Language:

english

File:

PDF, 712 KB

english, 2009

48

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH

A. Roos, S. Rudnik-Schöneborn, K. Eggermann, T. Eggermann, J. Senderek, G. Schwanitz, K. Zerres, H.M. Schüler

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 511 KB

english, 2006

49

Temperature dependence of the FMR absorption lines in viscoelastic magnetic materials

M.R. Dudek, N. Guskos, E. Senderek, Z. Roslaniec

Journal:

Journal of Alloys and Compounds

Year:

2010

Language:

english

File:

PDF, 490 KB

english, 2010

50

Influence of maghemite concentration on magnetic interactions in maghemite/PTT-block-PTMO nanocomposite

N. Guskos, M. Maryniak, J. Typek, A. Guskos, R. Szymczak, E. Senderek, Z. Roslaniec, D. Petridis, K. Aidinis

Journal:

Journal of Non-Crystalline Solids

Year:

2008

Language:

english

File:

PDF, 960 KB

english, 2008