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1

Studies on the generation of an animal model for metachromatic leukodystrophy

Volkmar Gieselmann

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 127 KB

english, 1996

2

Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

Agnieszka Lugowska, Olga Amaral, Johannes Berger, Linda Berna, Nils U. Bosshard, Amparo Chabas, Anthony Fensom, Volkmar Gieselmann, Natalia G. Gorovenko, Willy Lissens, Jan-Eric Mansson, Ana Marcao, H

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 331 KB

english, 2005

3

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort

Kehrer, Christiane, Groeschel, Samuel, Kustermann-Kuhn, Birgit, Bürger, Friederike, Köhler, Wolfgang, Kohlschütter, Alfried, Bley, Annette, Steinfeld, Robert, Gieselmann, Volkmar, Krägeloh-Mann, Ingeb

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 580 KB

english, 2014

4

Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy

Berger, Johannes, Löschl, Beate, Bernheimer, Hanno, Lugowska, Agnieszka, Tylki-Szymanska, Anna, Gieselmann, Volkmar, Molzer, Brunhilde

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 180 KB

english, 1997

5

Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy

Hermann, Stefanie, Schestag, Frank, Polten, Andreas, Kafert, Sabine, Penzien, Johann, Zlotogora, Joel, Baumann, Nicole, Gieselmann, Volkmar

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 187 KB

english, 2000

6

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy

Barbara Hess, Sabine Kafert, Uwe Heinisch, David A. Wenger, Joel Zlotogora, Volkmar Gieselmann

Journal:

Year:

1996

Language:

english

File:

PDF, 607 KB

english, 1996

7

Arylsulfatase a psedodeficiency: A common polymorphism which is associated with a unique haplotype

Joël Zlotogora, Yael Furman-Shaharabani, Sandra Goldenfum, Bryan Winchester, Kurt Von Figura, Volkmar Gieselmann

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 447 KB

english, 1994

8

Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations

Ana Marcão, Heidi Simonis, Frank Schestag, M. Clara Sá Miranda, Volkmar Gieselmann

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

9

Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients

Linda Berná, Volkmar Gieselmann, Helena Poupětová, Martin Hřebíček, Milan Elleder, Jana Ledvinová

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 75 KB

english, 2004

10

Late-onset metachromatic leukodystrophy: Molecular pathology in two siblings

Dr Joachim Kappler, Kurt von Figura, Volkmar Gieselmann

Journal:

Annals of Neurology

Year:

1992

Language:

english

File:

PDF, 928 KB

english, 1992

11

Hepatoma-derived growth factor (HDGF) is dispensable for normal mouse development

Rainer Gallitzendoerfer, Mekky M. Abouzied, Dieter Hartmann, Radoslaw Dobrowolski, Volkmar Gieselmann, Sebastian Franken

Journal:

Developmental Dynamics

Year:

2008

Language:

english

File:

PDF, 1.13 MB

english, 2008

12

Oligodendrocyte-specific ceramide galactosyltransferase (CGT) expression phenotypically rescues CGT-deficient mice and demonstrates that CGT activity does not limit brain galactosylceramide level

Inge Zöller, Heinrich Büssow, Volkmar Gieselmann, Matthias Eckhardt

Journal:

Year:

2005

Language:

english

File:

PDF, 703 KB

english, 2005

13

Complex arylsulfatase A alleles causing metachromatic leukodystrophy

Joachim Kappler, Hans Jörg Sommerlade, Kurt von Figura, Volkmar Gieselmann

Journal:

Year:

1994

Language:

english

File:

PDF, 741 KB

english, 1994

14

Molecular genetics of metachromatic leukodystrophy

Volkmar Gieselmann, Joel Zlotogora, Ann Harris, David A. Wenger, C. Phillip Morris

Journal:

Year:

1994

Language:

english

File:

PDF, 897 KB

english, 1994

15

Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews

Joël Zlotogora, Gideon Bach, Claudia Böusenberg, Ygal Barak, Kurt Von Figura, Volkmar Gieselmann

Journal:

Year:

1995

Language:

english

File:

PDF, 760 KB

english, 1995

16

Identification of specific nuclear structural protein alterations in human breast cancer

Manuel Debald, Sebastian Franken, Lukas Carl Heukamp, Andrea Linke, Matthias Wolfgarten, Klaus-Jürgen Walgenbach, Michael Braun, Christian Rudlowski, Volkmar Gieselmann, Walther Kuhn, Gunther Hartmann

Journal:

Journal of Cellular Biochemistry

Year:

2011

Language:

english

File:

PDF, 419 KB

english, 2011

17

Hepatoma-derived growth factor-related protein-3: A new neurotrophic and neurite outgrowth-promoting factor for cortical neurons

Mekky M. Abouzied, Heba M. El-Tahir, Volkmar Gieselmann, Sebastian Franken

Journal:

Journal of Neuroscience Research

Year:

2010

Language:

english

File:

PDF, 1.39 MB

english, 2010

18

Disorders of lysosomal lipid metabolism

Volkmar Gieselmann

Journal:

Chemistry and Physics of Lipids

Year:

2008

Language:

english

File:

PDF, 60 KB

english, 2008

19

Absence of 2-hydroxylated sphingolipids causes axonal degeneration

Marion Meixner, Inge Zöller, Dieter Hartmann, Volkmar Gieselmann, Matthias Eckhardt

Journal:

Chemistry and Physics of Lipids

Year:

2008

Language:

english

File:

PDF, 58 KB

english, 2008

20

Lethal audiogenic seizures in transgenic mice with increased sulfatide levels in neurons

Rebekka Berger, Volkmar Gieselmann, Matthias Eckhardt

Journal:

Chemistry and Physics of Lipids

Year:

2008

Language:

english

File:

PDF, 204 KB

english, 2008

21

Disruption of Tm7sf2 (3β hydroxysterol Δ14-reductase) gene in mice does not impair cholesterol biosynthesis

Anna Maria Bennati, Gianluca Schiavoni, Sebastian Franken, Danilo Piobbico, Maria Agnese della Fazia, Donatella Caruso, Emma de Fabiani, Volkmar Gieselmann, Giuseppe Servillo, Tommaso Beccari, Rita Ro

Journal:

Chemistry and Physics of Lipids

Year:

2008

Language:

english

File:

PDF, 59 KB

english, 2008

22

A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy

Karumbayaram Saravanan, Heinrich Büssow, Nina Weiler, Volkmar Gieselmann, Sebastian Franken

Journal:

Journal of Neuroscience Methods

Year:

2007

Language:

english

File:

PDF, 1.29 MB

english, 2007

23

Myelination in the absence of UDP-galactose:ceramide galactosyl-transferase and fatty acid 2 -hydroxylase

Marion Meixner, Julia Jungnickel, Claudia Grothe, Volkmar Gieselmann, Matthias Eckhardt

Journal:

BMC Neuroscience

Year:

2011

Language:

english

File:

PDF, 762 KB

english, 2011

24

An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy

Volkmar Gieselmann

Journal:

Year:

1991

Language:

english

File:

PDF, 576 KB

english, 1991

25

An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy

Wolfgang Bohne, Kurt Figura, Volkmar Gieselmann

Journal:

Year:

1991

Language:

english

File:

PDF, 572 KB

english, 1991

26

A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme

Sabine Kafert, Uwe Heinisch, Joel Zlotogora, Volkmar Gieselmann

Journal:

Year:

1995

Language:

english

File:

PDF, 592 KB

english, 1995

27

Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations

Johannes Berger, Brunhilde Molzer, Volkmar Gieselmann, Hanno Bernheimer

Journal:

Year:

1993

Language:

english

File:

PDF, 418 KB

english, 1993

28

A patient with an unusual form of metachromatic leukodystrophy

Volkmar Gieselmann

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 110 KB

english, 1996

29

Netzwerkprojekte für die Erforschung von Leukodystrophien, einer Gruppe seltener Erkrankungen der weißen Substanz des Nervensystems

J. Gärtner, A. Kohlschütter, Volkmar Gieselmann

Journal:

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz

Year:

2007

Language:

german

File:

PDF, 632 KB

german, 2007

30

Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease

Ulrich Matzner, Frank Matthes, Cecilia Weigelt, Claes Andersson, Carl Eistrup, Jens Fogh, Volkmar Gieselmann

Journal:

Journal of Molecular Medicine

Year:

2008

Language:

english

File:

PDF, 337 KB

english, 2008

31

Differential expression of (dihydro)ceramide synthases in mouse brain: oligodendrocyte-specific expression of CerS2/Lass2

Ivonne Becker, Lihua Wang-Eckhardt, Afshin Yaghootfam, Volkmar Gieselmann, Matthias Eckhardt

Journal:

Histochemistry and Cell Biology

Year:

2008

Language:

english

File:

PDF, 550 KB

english, 2008

32

Imaging and tracking of single hyaluronan molecules diffusing in solution

Tim Kaminski, Jan-Peter Siebrasse, Volkmar Gieselmann, Ulrich Kubitscheck, Joachim Kappler

Journal:

Glycoconjugate Journal

Year:

2008

Language:

english

File:

PDF, 238 KB

english, 2008

33

Aldolase C/Zebrin II is Released to the Extracellular Space after Stroke and Inhibits the Network Activity of Cortical Neurons

Stephanie Linke, Philipp Goertz, Stephan L. Baader, Volkmar Gieselmann, Mario Siebler, Ulrich Junghans, Joachim Kappler

Journal:

Neurochemical Research

Year:

2006

Language:

english

File:

PDF, 224 KB

english, 2006

34

Accumulation of sulfatide in neuronal and glial cells of arylsulfatase A deficient mice

Marie Molander-Melin, Zarah Pernber, Sebastian Franken, Volkmar Gieselmann, Jan-Eric Månsson, Pam Fredman

Journal:

Brain Cell Biology

Year:

2004

Language:

english

File:

PDF, 578 KB

english, 2004

35

The natural course of gross motor deterioration in metachromatic leukodystrophy

CHRISTIANE KEHRER, GUNNAR BLUMENSTOCK, VOLKMAR GIESELMANN, INGEBORG KRÄGELOH-MANN, ON BEHALF OF THE GERMAN LEUKONET

Journal:

Developmental Medicine & Child Neurology

Year:

2011

Language:

english

File:

PDF, 318 KB

english, 2011

36

Reversal of non-hydroxy : α-hydroxy galactosylceramide ratio and unstable myelin in transgenic mice overexpressing UDP-galactose : ceramide galactosyltransferase

Simon N. Fewou, Heinrich Büssow, Nicole Schaeren-Wiemers, Marie T. Vanier, Wendy B. Macklin, Volkmar Gieselmann, Matthias Eckhardt

Journal:

Journal of Neurochemistry

Year:

2005

Language:

english

File:

PDF, 681 KB

english, 2005

37

Elevated sulfatide levels in neurons cause lethal audiogenic seizures in mice

Rebekka Van Zyl, Volkmar Gieselmann, Matthias Eckhardt

Journal:

Journal of Neurochemistry

Year:

2010

Language:

english

File:

PDF, 744 KB

english, 2010

38

Missense mutations as a cause of metachromatic leukodystrophy : Degradation of arylsulfatase A in the endoplasmic reticulum

Peter Poeppel, Matthias Habetha, Ana Marcão, Heinrich Büssow, Linda Berna, Volkmar Gieselmann

Journal:

Year:

2005

Language:

english

File:

PDF, 418 KB

english, 2005

39

Sulfatide with short fatty acid dominates in astrocytes and neurons

Giorgis Isaac, Zarah Pernber, Volkmar Gieselmann, Elisabeth Hansson, Jonas Bergquist, Jan-Eric Månsson

Journal:

Year:

2006

Language:

english

File:

PDF, 310 KB

english, 2006

40

Disruption of the gene encoding 3β-hydroxysterol Δ14-reductase (Tm7sf2) in mice does not impair cholesterol biosynthesis

Anna M. Bennati, Gianluca Schiavoni, Sebastian Franken, Danilo Piobbico, Maria A. Della Fazia, Donatella Caruso, Emma De Fabiani, Laura Benedetti, Maria G. Cusella De Angelis, Volkmar Gieselmann, Gius

Journal:

Year:

2008

Language:

english

File:

PDF, 318 KB

english, 2008

41

Misfolded endoplasmic reticulum retained subunits cause degradation of wild-type subunits of arylsulfatase A heteromers

Peter Poeppel, Mekky Mohamed Abouzied, Christof Völker, Volkmar Gieselmann

Journal:

Year:

2010

Language:

english

File:

PDF, 571 KB

english, 2010

42

Delay of myelin formation in arylsulphatase A-deficient mice

Afshin Yaghootfam, Volkmar Gieselmann, Matthias Eckhardt

Journal:

European Journal of Neuroscience

Year:

2005

Language:

english

File:

PDF, 549 KB

english, 2005

43

Three Novel Mutant Arylsulfatase A Alleles Causing Metachromatic Leukodystrophy

Afshin Yaghootfam, Nicole Baumann, Andreas Schwarz, Volkmar Gieselmann

Journal:

Neurochemical Research

Year:

2004

Language:

english

File:

PDF, 1.72 MB

english, 2004

44

Accumulation of sulfatide in neuronal and glial cells of arylsulfatase A deficient mice

Marie Molander-Melin, Zarah Pernber, Sebastian Franken, Volkmar Gieselmann, Jan-Eric Månsson, Pam Fredman

Journal:

Brain Cell Biology

Year:

2004

Language:

english

File:

PDF, 572 KB

english, 2004

45

Lysosomal disorders: From storage to cellular damage

Andrea Ballabio, Volkmar Gieselmann

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2009

Language:

english

File:

PDF, 939 KB

english, 2009

46

Lysosomes

Volkmar Gieselmann, Thomas Braulke

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2009

Language:

english

File:

PDF, 87 KB

english, 2009

47

CD44 and hyaluronan promote invasive growth of B35 neuroblastoma cells into the brain

Annette Pusch, Annika Boeckenhoff, Tamara Glaser, Tim Kaminski, Gregor Kirfel, Michael Hans, Barbara Steinfarz, Dieter Swandulla, Ulrich Kubitscheck, Volkmar Gieselmann, Oliver Brüstle, Joachim Kapple

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2010

Language:

english

File:

PDF, 4.22 MB

english, 2010

48

Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy

Rudi D’Hooge, Debby Van Dam, Frieda Franck, Volkmar Gieselmann, Peter P De Deyn

Journal:

Year:

2001

Language:

english

File:

PDF, 776 KB

english, 2001

49

Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice

Rudi D'Hooge, Ruth Coenen, Volkmar Gieselmann, Renate Lüllmann-Rauch, Peter P. De Deyn

Journal:

Year:

1999

Language:

english

File:

PDF, 739 KB

english, 1999

50

Reversibility of cellular and organ pathology in enzyme replacement trials in animal models of lysosomal storage diseases

Volkmar Gieselmann

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 205 KB

english, 2006