Bernd Rautenstrauss: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Hemiplegic migraine with reversible cerebral vasoconstriction caused byATP1A2mutations

Andreas Hermann, Kay Engelandt, Bernd Rautenstrauss…

Journal:

Journal of Neurology

Year:

2013

Language:

english

File:

PDF, 262 KB

english, 2013

2

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

Gabriela Chavarria-Soley, Heinrich Sticht, Eleni Aklillu, Magnus Ingelman-Sundberg, Francesca Pasutto, André Reis, Bernd Rautenstrauss

Journal:

Year:

2008

Language:

english

File:

PDF, 384 KB

english, 2008

3

Identification ofAluelements mediating a partialPMP22deletion

Verena Matejas, Kathrin Huehne, Christian Thiel, Claudia Sommer, Sibylle Jakubiczka, Bernd Rautenstrauss

Journal:

Year:

2006

Language:

english

File:

PDF, 382 KB

english, 2006

4

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP

Thiel, Christian T, Kraus, Cornelia, Rauch, Anita, Ekici, Arif B, Rautenstrauss, Bernd, Reis, André

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 293 KB

english, 2003

5

FISH Technology || FISH Techniques, FISH Probes and Their Applications in Medicine and Biology — An Overview

Rautenstrauss, Bernd W., Liehr, Thomas

Year:

2002

Language:

english

File:

PDF, 6.56 MB

english, 2002

6

Expression analysis of the PMP22 gene in glioma and osteogenic sarcoma cell lines

Kathrin Hühne, Oksoon Park, Thomas Liehr, Bernd Rautenstrauss

Journal:

Journal of Neuroscience Research

Year:

1999

Language:

english

File:

PDF, 227 KB

english, 1999

7

Regional localization of 10 mariner transposon-like ESTs by means of FISH—evidence for a correlation with fragile sites

Thomas Liehr, Lawrence T. Reiter, James R. Lupski, Tatsufumi Murakami, Uwe Claussen, Bernd Rautenstrauss

Journal:

Mammalian Genome

Year:

2001

Language:

english

File:

PDF, 2.20 MB

english, 2001

8

Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity

Ralph Naumann, Johannes Mohm, Ulrike Reuner, Frank Kroschinsky, Bernd Rautenstrauss, Gerhard Ehninger

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 491 KB

english, 2001

9

Late onset autosomal dominant Charcot–Marie–Tooth 2 neuropathy in a Costa Rican family

Berghoff, Corinna, Berghoff, Martin, Leal, Alejandro, Morera, Bernal, Contreras, Carlos, Barrantes, Ramiro, Rautenstrauss, Bernd, Del Valle, Gerardo, Heuss, Dieter

Journal:

Neurological Research

Year:

2009

Language:

english

File:

PDF, 176 KB

english, 2009

10

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Boizot, Alexia, Talmat-Amar, Yasmina, Morrogh, Deborah, Kuntz, Nancy L, Halbert, Cecile, Chabrol, Brigitte, Houlden, Henry, Stojkovic, Tanya, Schulman, Brenda A, Rautenstrauss, Bernd, Bomont, Pascale

Journal:

Acta Neuropathologica Communications

Year:

2014

Language:

english

File:

PDF, 1.06 MB

english, 2014

11

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

Kathrin Huehne, Vladimir Benes, Christian Thiel, Cornelia Kraus, Wolfram Kress, Maria Hoeltzenbein, Christoph J. Ploner, Johannes Kotzian, André Reis, Hans Dieter Rott, Bernd W. Rautenstrauss

Journal:

Year:

2003

Language:

english

File:

PDF, 28 KB

english, 2003

12

Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations

Knut Brockmann, Steffi Dreha-Kulaczewski, Peter Dechent, Carsten Bönnemann, Gunther Helms, Marten Kyllerman, Wolfgang Brück, Jens Frahm, Kathrin Huehne, Jutta Gärtner, Bernd Rautenstrauss

Journal:

Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 1.97 MB

english, 2008

13

Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): Report from India

A. Nalini, N. Gayathri, T.C. Yasha, S. Ravishankar, A. Urtizberea, Kathrin Huehne, Bernd Rautenstrauss

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.16 MB

english, 2008

14

High post surgical opioid requirements in Crohn’s disease are not due to a general change in pain sensitivity

Kathrin Huehne, Stefan Leis, Tino Muenster, Andreas Wehrfritz, Stefanie Winter, Christian Maihöfner, Thomas Foertsch, Roland Croner, André Reis, Andreas Winterpacht, Bernd Rautenstrauss

Journal:

European Journal of Pain

Year:

2009

Language:

english

File:

PDF, 313 KB

english, 2009

15

Tracing Myelin Protein Zero (P0)in vivoby construction of P0-GFP fusion proteins

Arif B Ekici, Sevinc Oezbey, Christina Fuchs, Eva Nelis, Christine Van Broeckhoven, Melitta Schachner, Bernd Rautenstrauss

Journal:

BMC Cell Biology

Year:

2002

Language:

english

File:

PDF, 2.96 MB

english, 2002

16

High-resolution FISH of stretched chromosome fibers

Christina Fuchs, T. Liehr, Bernd Rautenstrauss

Journal:

Technical Tips Online

Year:

1997

Language:

english

File:

PDF, 159 KB

english, 1997

17

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

Annelies Rotthier, Anke Penno, Bernd Rautenstrauss, Michaela Auer-Grumbach, Georg M. Stettner, Bob Asselbergh, Kim Van Hoof, Heinrich Sticht, Nicolas Lévy, Vincent Timmerman, Thorsten Hornemann, Katri

Journal:

Year:

2011

Language:

english

File:

PDF, 615 KB

english, 2011

18

Profiling of WDR36 Missense Variants in German Patients with Glaucoma

Pasutto, Francesca, Mardin, Christian Y., Michels-Rautenstrauss, Karin, Weber, Bernhard H. F., Sticht, Heinrich, Chavarria-Soley, Gabriela, Rautenstrauss, Bernd, Kruse, Friedrich, Reis, Andre´

Journal:

Investigative Ophthalmology & Visual Science

Year:

2008

Language:

english

File:

PDF, 138 KB

english, 2008

19

Assay of transfection rate in insect cells on a single cell level

Bernd Rautenstrauss, Christina Fuchs, Arif Ekici, Eva Nelis, Christine Van Broeckhoven, Thomas Liehr

Journal:

Genetic Analysis: Biomolecular Engineering

Year:

1998

Language:

english

File:

PDF, 213 KB

english, 1998

20

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease

Marttila, Maria, Rautenstrauss, Bernd, Huehne, Kathrin, Laitinen, Virpi, Majamaa, Kari, Kärppä, Mikko

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 177 KB

english, 2012

21

Heterologous expression of wildtype and mutant myocilin in High Five™ insect cells shows comparable effects to cultivated trabecular meshwork cells

Sevinc Oezbey, Corinna Stengel, Ursula Schlötzer-Schrehardt, Arif Ekici, Bernd Rautenstrauss

Journal:

Biomolecular Engineering

Year:

2007

Language:

english

File:

PDF, 1.13 MB

english, 2007

22

One-tube, two-stage PCR-directed in vitro mutagenesis using megaprimers

Arif Bülent Ekici, Ok Soon Park, Christina Fuchs, Bernd Rautenstrauss

Journal:

Technical Tips Online

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

23

Substrate and Product Binding Sites of Yeast Fatty Acid Synthase : Stoichiometry and Binding Kinetics of Wild-Type and in vitro Mutated Enzymes

Hedwig Schuster, Bernd Rautenstrauss, Maria Mittag, Dirk Stratmann, Eckhart Schweizer

Journal:

Year:

1995

Language:

english

File:

PDF, 1023 KB

english, 1995

24

Fish analysis of interphase nuclei extracted from paraffin-embedded tissue

Thomas Liehr, Holger Grebl, Bernd Rautenstrauss

Journal:

Trends in Genetics

Year:

1995

Language:

english

File:

PDF, 455 KB

english, 1995

25

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

Corinna Berghoff, Martin Berghoff, Alejandro Leal, Bernal Morera, Ramiro Barrantes, André Reis, Bernhard Neundörfer, Bernd Rautenstrauss, Gerardo Del Valle, Dieter Heuss

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 97 KB

english, 2004

26

A novel myosin heavy chain gene in human chromosome 19q13.3

Alejandro Leal, Sabine Endele, Corinna Stengel, Kathrin Huehne, Joachim Loetterle, Ramiro Barrantes, Andreas Winterpacht, Bernd Rautenstrauss

Journal:

Year:

2003

Language:

english

File:

PDF, 793 KB

english, 2003

27

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

Rita Horvath, Elke Holinski-Feder, Vivienne C.M. Neeve, Angela Pyle, Helen Griffin, Deephthi Ashok, Charlotte Foley, Gavin Hudson, Bernd Rautenstrauss PhD, Gudrun Nürnberg, Peter Nürnberg, Jörg Kortle

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 1.19 MB

english, 2012

28

Differential proteolytic sensitivity of yeast fatty acid synthetase subunits α and β contributing to a balanced ratio of both fatty acid synthetase components

Hans-Joachim SCHÜLLER, Brigitte FÖRTSCH, Bernd RAUTENSTRAUSS, Dieter H. WOLF, Eckhart SCHWEIZER

Journal:

Year:

1992

Language:

english

File:

PDF, 899 KB

english, 1992

29

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes

Schreiber, Olivia, Schneiderat, Peter, Kress, Wolfram, Rautenstrauss, Bernd, Senderek, Jan, Schoser, Benedikt, Walter, Maggie C

Journal:

BMC Medical Genetics

Year:

2013

Language:

english

File:

PDF, 426 KB

english, 2013

30

Mutations in the LMNA gene do not cause axonal CMT in Czech patients

Laššuthová, Petra, Baránková, Lucia, Haberlová, Jana, Mazanec, Radim, Wallace, Andrew, Huehne, Kathrin, Rautenstrauss, Bernd, Seeman, Pavel

Journal:

Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 112 KB

english, 2009

31

Primary Congenital Glaucoma: Three Case Reports on Novel Mutations and Combinations of Mutations in the GLC3A (CYP1B1) Gene

Michels-Rautenstrauss, Karin G., Mardin, Christian Y., Zenker, Martin, Jordan, Nicole, Gusek-Schneider, Gabriele-Charlotte, Rautenstrauss, Bernd W.

Journal:

Journal of Glaucoma

Year:

2001

Language:

english

File:

PDF, 1.06 MB

english, 2001

32

Targeting glaucoma beyond intraocular pressure

Rautenstrauss, Bernd, Mardin, Christian

Journal:

Expert Review of Ophthalmology

Year:

2010

Language:

english

File:

PDF, 379 KB

english, 2010

33

Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma

Pasutto, Francesca, Chavarria-Soley, Gabriela, Mardin, Christian Y., Michels-Rautenstrauss, Karin, Ingelman-Sundberg, Magnus, Fernández-Martínez, Lorena, Weber, Bernhard H. F., Rautenstrauss, Bernd, R

Journal:

Investigative Ophthalmology & Visual Science

Year:

2010

Language:

english

File:

PDF, 270 KB

english, 2010

34

Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546???1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin

Soley, Gabriela Chavarria, Bosse, Kristin A., Flikier, David, Flikier, Paul, Azofeifa, Jorge, Mardin, Christian Y., Reis, Andre, Michels-Rautenstrauss, Karin G., Rautenstrauss, Bernd W.

Journal:

Journal of Glaucoma

Year:

2003

Language:

english

File:

PDF, 244 KB

english, 2003

35

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janeck

Journal:

Year:

2015

Language:

english

File:

PDF, 577 KB

english, 2015

36

Phenotypic variability in giant axonal neuropathy

Meriem Tazir, Sonia Nouioua, Laurent Magy, Kathrin Huehne, Salima Assami, Andoni Urtizberea, Djamel Grid, Tarik Hamadouche, Bernd Rautenstrauss, Jean-Michel Vallat

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 443 KB

english, 2009

37

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Mannil, Manoj, Solari, Alessandra, Leha, Andreas, Pelayo-Negro, Ana L., Berciano, José, Schlotter-Weigel, Beate, Walter, Maggie C., Rautenstrauss, Bernd, Schnizer, Tuuli J., Schenone, Angelo, Seeman,

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 2.75 MB

english, 2014

38

Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines

Huehne, Kathrin, Rautenstrauss, Bernd

Journal:

International Journal of Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 1.76 MB

english, 2001

39

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A.J. Weterman, Claudia Gonzaga-Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauss, Klaus-Henning Krause, Meh

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 998 KB

english, 2010

40

Charcot–Marie–Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype – Usefulness of human mapping chip linkage analysis in a Czech family

Dana Šafka Brožková, Soňa Nevšímalová, Radim Mazanec, Bernd Rautenstrauss, Pavel Seeman

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 247 KB

english, 2012

41

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Fernández-Martínez, Lorena, Letteboer, Stef, Mardin, Christian Y, Weisschuh, Nicole, Gramer, Eugen, Weber, Bernhard HF, Rautenstrauss, Bernd, Ferreira, Paulo A, Kruse, Friedrich E, Reis, André

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 441 KB

english, 2011

42

Genetic and phenotypic variability of optic neuropathies

Neuhann, Teresa, Rautenstrauss, Bernd

Journal:

Expert Review of Neurotherapeutics

Year:

2013

Language:

english

File:

PDF, 959 KB

english, 2013

43

Novel CYP1B1 and Known PAX6 Mutations in Anterior Segment Dysgenesis (ASD)

Chavarria-Soley, Gabriela, Michels-Rautenstrauss, Karin, Caliebe, Almuth, Kautza, Monika, Mardin, Christian, Rautenstrauss, Bernd

Journal:

Journal of Glaucoma

Year:

2006

Language:

english

File:

PDF, 384 KB

english, 2006

44

An adhesion test system based on Schneider cells to determine genotype–phenotype correlations for mutated P0 proteins

Arif Bülent Ekici, Christina Fuchs, Eva Nelis, Rainer Hillenbrand, Melitta Schachner, Christine Van Broeckhoven, Bernd Rautenstrauss

Journal:

Genetic Analysis: Biomolecular Engineering

Year:

1998

Language:

english

File:

PDF, 58 KB

english, 1998

45

High Frequency of Mutations in the PIK3CA Gene Helical and Kinase Coding Regions in a Group of Iranian Patients with High-Grade Glioblastomas: Five Novel Mutations

Derakhshandeh-Peykar, Pupak, Alivi, Jalil, Hosseinnejad, Arash, Rautenstrauss, Bernd, Vesal, Reza Ebrahimzadeh, Doriani, Afsoon

Journal:

Journal of Neurogenetics

Year:

2011

Language:

english

File:

PDF, 275 KB

english, 2011

46

FISH Technology || Epithelial Cells from Buccal Smears and Urine

Rautenstrauss, Bernd W., Liehr, Thomas

Year:

2002

Language:

english

File:

PDF, 1.31 MB

english, 2002

47

A rapid method for FISH analysis on interphase nuclei extracted from cryofixed tissues

Thomas Liehr, Holger Grehl, Bernd Rautenstrauss

Journal:

Trends in Genetics

Year:

1996

Language:

english

File:

PDF, 182 KB

english, 1996

48

Rapid fluorescence in situ detection of heterologous expression of E. coli and counterstaining with diamidinophenylindol

Thomas Liehr, Heike Altenberger, Bernd Rautenstrauss

Journal:

Trends in Genetics

Year:

1995

Language:

english

File:

PDF, 266 KB

english, 1995

49

Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)

Kathrin Huehne, Ute Schaal, Stefan Leis, Steffen Uebe, M. Florencia Gosso, Arn M.J.M. van den Maagdenberg, Christian Maihöfner, Frank Birklein, Bernd Rautenstrauss, Andreas Winterpacht

Journal:

Neuroscience Letters

Year:

2010

Language:

english

File:

PDF, 367 KB

english, 2010

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски