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1

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

Alfried Kohlschütter, Annette Bley, Knut Brockmann, Jutta Gärtner, Ingeborg Krägeloh-Mann, Arndt Rolfs, Ludger Schöls

Journal:

Brain and Development

Year:

2010

Language:

english

File:

PDF, 138 KB

english, 2010

2

Pediatric multiple sclerosis: Detection of clinically silent lesions by multimodal evoked potentials

Daniela Pohl, Kevin Rostasy, Stephanie Treiber-Held, Knut Brockmann, Jutta Gärtner, Folker Hanefeld

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 73 KB

english, 2006

3

Genotype and Protein Expression After Bone Marrow Transplantation for Adrenoleukodystrophy

Schönberger, Stefan, Roerig, Peter, Schneider, Dominik T., Reifenberger, Guido, Göbel, Ulrich, Gärtner, Jutta

Journal:

Archives of Neurology

Year:

2007

Language:

english

File:

PDF, 316 KB

english, 2007

4

STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis

Guen, Vincent J., Gamble, Carly, Perez, Dahlia E., Bourassa, Sylvie, Zappel, Hildegard, Gärtner, Jutta, Lees, Jacqueline A., Colas, Pierre

Journal:

Year:

2016

Language:

english

File:

PDF, 1.93 MB

english, 2016

5

Leukodystrophy incidence in Germany

Heim, Peter, Claussen, Matthias, Hoffmann, Béatrice, Conzelmann, Ernst, Gärtner, Jutta, Harzer, Klaus, Hunneman, Donald H., Köhler, Wolfgang, Kurlemann, Gerhard, Kohlschütter, Alfried

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 27 KB

english, 1997

6

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Claudia Rubie, Peter Lichtner, Jutta Gärtner, Markus Siekiera, Graziella Uziel, Bernd Kohlmann, Alfried Kohlschütter, Thomas Meitinger, Gerald Stöber, Thomas Bettecken

Journal:

Year:

2003

Language:

english

File:

PDF, 174 KB

english, 2003

7

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency

Lars Schlotawa, Robert Steinfeld, Kurt von Figura, Thomas Dierks, Jutta Gärtner

Journal:

Year:

2008

Language:

english

File:

PDF, 1.55 MB

english, 2008

8

Leukoencephalopathy with accumulated succinate is indicative ofSDHAF1related complex II deficiency

Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjornstad, Ann Saada, Orly Elpeleg, Jutta Gärtner, Knut Brockmann

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 231 KB

english, 2012

9

Organelle disease: peroxisomal disorders

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 113 KB

english, 2000

10

Autosomal-recessive Kearns–Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect

Wilichowski, Ekkehard, Abicht, Angela, Mayr, Hans, Horvath, Rita, Sperl, Wolfgang, Gärtner, Jutta

Journal:

Year:

2013

Language:

english

File:

PDF, 71 KB

english, 2013

11

The Allocation of Money in Couples: The End of Inequality? / Allokation von Geld in Paarbeziehungen: Das Ende der Ungleichheit?

Ludwig-Mayerhofer, Wolfgang, Gartner, Hermann, Allmendinger, Jutta

Journal:

Zeitschrift für Soziologie

Year:

2006

Language:

english

File:

PDF, 286 KB

english, 2006

12

Identification of the Upward Movement of Human CSF In Vivo and its Relation to the Brain Venous System

Dreha-Kulaczewski, Steffi, Joseph, Arun A., Merboldt, Klaus-Dietmar, Ludwig, Hans-Christoph, Gärtner, Jutta, Frahm, Jens

Journal:

Journal of Neuroscience

Year:

2017

Language:

english

File:

PDF, 4.09 MB

english, 2017

13

Therapy of highly active pediatric multiple sclerosis

Huppke, Peter, Huppke, Brenda, Ellenberger, David, Rostasy, Kevin, Hummel, Hannah, Stark, Wiebke, Brück, Wolfgang, Gärtner, Jutta

Journal:

Multiple Sclerosis Journal

Year:

2017

Language:

english

File:

PDF, 700 KB

english, 2017

14

Upward movement of cerebrospinal fluid in obstructive hydrocephalus—revision of an old concept

Bock, Hans C., Dreha-Kulaczewski, Steffi F., Alaid, Awad, Gärtner, Jutta, Ludwig, Hans C.

Journal:

Child's Nervous System

Year:

2019

Language:

english

File:

PDF, 6.01 MB

english, 2019

15

Association of Obesity With Multiple Sclerosis Risk and Response to First-line Disease Modifying Drugs in Children

Huppke, Brenda, Ellenberger, David, Hummel, Hannah, Stark, Wiebke, Röbl, Markus, Gärtner, Jutta, Huppke, Peter

Journal:

Year:

2019

Language:

english

File:

PDF, 200 KB

english, 2019

16

Mutation analysis of the M6b gene in patients with Pelizaeus–Merzbacher-like syndrome

Marco Henneke, Lars-Erik Wehner, Hans Christian Hennies, Natalie Preuß, Jutta Gärtner

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 58 KB

english, 2004

17

Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2

Peter Huppke, Andreas Ohlenbusch, Cornelia Brendel, Franco Laccone, Jutta Gärtner

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 49 KB

english, 2005

18

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Sabine Grønborg, Ralph Krätzner, Juliane Spiegler, Sacha Ferdinandusse, Ronald J.A. Wanders, Hans R. Waterham, Jutta Gärtner

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 172 KB

english, 2010

19

Clinical and biochemical spectrum of D-bifunctional protein deficiency

Sacha Ferdinandusse, Simone Denis, Petra A. W. Mooyer, Conny Dekker, Marinus Duran, Roelineke J. Soorani-Lunsing, Eugen Boltshauser, Alfons Macaya, Jutta Gärtner, Charles B. L. M. Majoie, Peter G. Bar

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 598 KB

english, 2006

20

Polymicrogyria in fetal alcohol syndrome

Konstanze Reinhardt, Alexander Mohr, Jutta Gärtner, Hans-Ludwig Spohr, Knut Brockmann

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2010

Language:

english

File:

PDF, 123 KB

english, 2010

21

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene

Sabine Weller, Jutta Gärtner

Journal:

Year:

2001

Language:

english

File:

PDF, 295 KB

english, 2001

22

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease

Marco Henneke, Nadine Flaschker, Christoph Helbling, Martina Müller, Peter Schadewaldt, Jutta Gärtner, Udo Wendel

Journal:

Year:

2003

Language:

english

File:

PDF, 39 KB

english, 2003

23

Identification of ten novel mutations in patients with eIF2B-related disorders

Andreas Ohlenbusch, Marco Henneke, Knut Brockmann, Maria Goerg, Folker Hanefeld, Alfried Kohlschütter, Jutta Gärtner

Journal:

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

24

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients

Cindy Krause, Hendrik Rosewich, Melissa Thanos, Jutta Gärtner

Journal:

Year:

2006

Language:

english

File:

PDF, 63 KB

english, 2006

25

The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy

Michael Linnebank, Alexander Semmler, Wim J. Kleijer, Marianne L.T. van der Sterre, Jutta Gärtner, Klaus Fliessbach, Piotr Sokolowski, Wolfgang Köhler, Uwe Schlegel, Thomas Klockgether, Ronald J.A. Wa

Journal:

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

26

Characterization of two common 5' polymorphisms inPEX1and correlation to survival in PEX1 peroxisome biogenesis disorder patients

Sven Thoms, Sabine Grønborg, Jana Rabenau, Andreas Ohlenbusch, Hendrik Rosewich, Jutta Gärtner

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 181 KB

english, 2011

27

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

Cornelia Brendel, Valery Belakhov, Hauke Werner, Eike Wegener, Jutta Gärtner, Igor Nudelman, Timor Baasov, Peter Huppke

Journal:

Journal of Molecular Medicine

Year:

2011

Language:

english

File:

PDF, 763 KB

english, 2011

28

Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI

Steffi Dreha-Kulaczewski, Peter Dechent, Gunther Helms, Jens Frahm, Jutta Gärtner, Knut Brockmann

Journal:

Year:

2006

Language:

english

File:

PDF, 281 KB

english, 2006

29

Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo’s concentric sclerosis

Steffi F. Dreha-Kulaczewski, Gunther Helms, Peter Dechent, Sabine Hofer, Jutta Gärtner, Jens Frahm

Journal:

Year:

2009

Language:

english

File:

PDF, 440 KB

english, 2009

30

The value of new MRI techniques in adrenoleukodystrophy

V. Engelbrecht, Margarete Rassek, Jutta Gärtner, Thomas Kahn, Ulrich Mödder

Journal:

Pediatric Radiology

Year:

1997

Language:

english

File:

PDF, 1.38 MB

english, 1997

31

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

32

Paediatric multiple sclerosis: The experience of the German Centre for Multiple Sclerosis in Childhood and Adolescence

Wiebke Stark*, Peter Huppke*, Jutta Gärtner

Journal:

Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 181 KB

english, 2008

33

Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis

Silvija Jerkic, Hendrik Rosewich, Jens-Gerd Scharf, Christina Perske, Laszlo Füzesi, Ekkehard Wilichowski, Jutta Gärtner

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 294 KB

english, 2005

34

Isolation and characterisation of bacteria from the Eastern Mediterranean deep sea

Andrea Gärtner, Martina Blümel, Jutta Wiese, Johannes F. Imhoff

Journal:

Antonie van Leeuwenhoek

Year:

2011

Language:

english

File:

PDF, 1.81 MB

english, 2011

35

Visually Self-induced Seizures Sensitive to Round Objects

Knut Brockmann, Peter Huppke, Michael Karenfort, Jutta Gärtner, Christoph Höger

Journal:

Year:

2005

Language:

english

File:

PDF, 187 KB

english, 2005

36

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

Koehler, Katrin, Brockmann, Knut, Krumbholz, Manuela, Kind, Barbara, Bönnemann, Carsten, Gärtner, Jutta, Huebner, Angela

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 344 KB

english, 2008

37

Rational diagnostic strategy for Zellweger syndrome spectrum patients

Krause, Cindy, Rosewich, Hendrik, Gärtner, Jutta

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 220 KB

english, 2009

38

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

Schlotawa, Lars, Ennemann, Eva Charlotte, Radhakrishnan, Karthikeyan, Schmidt, Bernhard, Chakrapani, Anupam, Christen, Hans-Jürgen, Moser, Hugo, Steinmann, Beat, Dierks, Thomas, Gärtner, Jutta

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 836 KB

english, 2011

39

Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction

Diekmann, Simone, Henneke, Marco, Burckhardt, Birgitta C, Gärtner, Jutta

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 780 KB

english, 2010

40

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

Gärtner, Jutta, Moser, Hugo, Valle, David

Journal:

Nature Genetics

Year:

1992

File:

PDF, 1006 KB

1992

41

Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2−/y knockout mice

Georg M. Stettner, Peter Huppke, Cornelia Brendel, Diethelm W. Richter, Jutta Gärtner, Mathias Dutschmann

Journal:

The Journal of Physiology

Year:

2007

Language:

english

File:

PDF, 875 KB

english, 2007

42

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

Robert Steinfeld, Marcel Grapp, Ralph Kraetzner, Steffi Dreha-Kulaczewski, Gunther Helms, Peter Dechent, Ron Wevers, Salvatore Grosso, Jutta Gärtner

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.05 MB

english, 2009

43

X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects

Johannes Berger, Jutta Gärtner

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2006

Language:

english

File:

PDF, 374 KB

english, 2006

44

Treatment of epilepsy in Rett syndrome

Peter Huppke, Karola Köhler, Knut Brockmann, Georg M. Stettner, Jutta Gärtner

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 217 KB

english, 2007

45

MicroRNA regulation in experimental autoimmune encephalomyelitis in mice and marmosets resembles regulation in human multiple sclerosis lesions

Juliane Lescher, Franziska Paap, Verena Schultz, Laura Redenbach, Uta Scheidt, Hendrik Rosewich, Stefan Nessler, Eberhard Fuchs, Jutta Gärtner, Wolfgang Brück, Andreas Junker

Journal:

Journal of Neuroimmunology

Year:

2012

Language:

english

File:

PDF, 641 KB

english, 2012

46

Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70

Jutta Gärtner, Ute Brosius, Cassandra Obie, Paul A. Watkins, David Valle

Journal:

European Journal of Cell Biology

Year:

1998

Language:

english

File:

PDF, 5.60 MB

english, 1998

47

Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation

Christian Kratz, Hans-Gerd Lenard, Thomas Ruzicka, Jutta Gärtner

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 335 KB

english, 2000

48

A decreasing rate of neural tube defects following the recommendations for periconceptional folic acid supplementation

ANNE KLUSMANN, BEATE HEINRICH, HEIKE STÖPLER, JUTTA GÄRTNER, ERTAN MAYATEPEK, RÜDIGER VON KRIES

Journal:

Acta Paediatrica

Year:

2005

Language:

english

File:

PDF, 537 KB

english, 2005

49

Peroxisome Formation Requires the Endoplasmic Reticulum Channel Protein Sec61

Sven Thoms, Imke Harms, Kai-Uwe Kalies, Jutta Gärtner

Journal:

Year:

2012

Language:

english

File:

PDF, 15.67 MB

english, 2012

50

Assessment of myelination in hypomyelinating disorders by quantitative MRI

Steffi F. Dreha-Kulaczewski, Knut Brockmann, Marco Henneke, Peter Dechent, Bernd Wilken, Jutta Gärtner, G. Helms

Journal:

Journal of Magnetic Resonance Imaging

Year:

2012

Language:

english

File:

PDF, 1.04 MB

english, 2012