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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

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

3

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

4

Sural nerve biopsy studies in leigh's subacute necrotizing encephalomyelopathy

Dr. Hans H. Goebel, Dr. Attila Bardosi, Dr. Reinhard L. Friede, Dr. Alfried Kohlschütter, Dr. Michael Albani, Dr. Hartmut Siemes

Journal:

Year:

1986

Language:

english

File:

PDF, 2.33 MB

english, 1986

5

How different constituents of human plasma and low density lipoprotein determine plasma oxidizability by copper

Torsten Spranger, Barbara Finckh, Ralph Fingerhut, Alfried Kohlschütter, Ulrike Beisiegel, Anatol Kontush

Journal:

Chemistry and Physics of Lipids

Year:

1998

Language:

english

File:

PDF, 174 KB

english, 1998

6

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

7

A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: Recognizing fatty acid oxidation defects in adults

Kluge, Stefan, Kühnelt, Peter, Block, Andreas, Merkel, Martin, Gocht, Andreas, Lukacs, Zoltan, Kohlschütter, Alfried, Kreymann, Georg

Journal:

Critical Care Medicine

Year:

2003

Language:

english

File:

PDF, 1.01 MB

english, 2003

8

Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases

Kopitz, Jürgen, Harzer, Klaus, Kohlschütter, Alfried, Zöller, Barbara, Blenck, Nahid, Cantz, Michael

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 405 KB

1996

9

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency

Hinson, Debra D., Rogers, Zora R., Hoffmann, Georg F., Schachtele, M., Fingerhut, Ralph, Kohlschutter, Alfried, Kelley, Richard I., Gibson, K. Michael

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 78 KB

english, 1998

10

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1

Ulrich Finckh, Alfried Kohlschütter, Hansjörg Schäfer, Katja Sperhake, Jean-Pierre Colombo, Andreas Gal

Journal:

Year:

1998

Language:

english

File:

PDF, 597 KB

english, 1998

11

Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

Mireille Cossée, Alexandra Dürr, Michèle Schmitt, Niklas Dahl, Paul Trouillas, Patricia Allinson, Markus Kostrzewa, Annie Nivelon-Chevallier, Karl-Henrik Gustavson, Alfried Kohlschütter, Ulrich Müller

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 152 KB

english, 1999

12

Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations

Robert Steinfeld, Peter Heim, Henning von Gregory, Kerstin Meyer, Kurt Ullrich, Hans H. Goebel, Alfried Kohlschütter

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 1.21 MB

english, 2002

13

Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders

Matthias Claussen, Peter Heim, Jarold Knispel, Hans H. Goebel, Alfried Kohlschütter

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 308 KB

english, 1992

14

Avoid diagnostic delay of late infantile and juvenile neuronal ceroid-lipofuscinosis (LINCL, JNCL): A word to pediatricians, neurologists, and ophthalmologists

Peter Heim, Alfried Kohlschütter

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 83 KB

english, 1995

15

Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation

Xiao-Qi Ding, Annette Bley, Alfried Kohlschütter, Jens Fiehler, Heinrich Lanfermann

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 241 KB

english, 2012

16

Atypical focal MRI lesions in a case of juvenile Alexander's disease

Eva Neumaier Probst, Christian Hagel, Vanja Weisz, Sandra Nagel, Oliver Wittkugel, Hermann Zeumer, Alfried Kohlschütter

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 241 KB

english, 2003

17

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant

Angela Schulz, Sumeer Dhar, Svetlana Rylova, Ghassan Dbaibo, Joseph Alroy, Christian Hagel, Isabelo Artacho, Alfried Kohlschütter, Simon Lin, Rose-Mary Boustany

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 790 KB

english, 2004

18

The ultrastructure of the sural nerve in Pompe's disease

Dr. Hans H. Goebel, Hans G. Lenard, Alfried Kohlschütter, Hartmut Pilz

Journal:

Annals of Neurology

Year:

1977

Language:

english

File:

PDF, 802 KB

english, 1977

19

Localization of the giant axonal neuropathy gene to chromosome 16q24

Dr Kevin M. Flanigan, Thomas O. Crawford, John W. Griffin, Hans H. Goebel, Alfried Kohlschütter, Judith Ranells, Peter R. Camfield, Louis J. Ptáček

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 516 KB

english, 1998

20

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship

Anne-Hélène Lebrun, Stephan Storch, Franz Rüschendorf, Mia-Lisa Schmiedt, Aija Kyttälä, Sara E. Mole, Claudia Kitzmüller, Kathrin Saar, Leena D. Mewasingh, Volker Boda, Alfried Kohlschütter, Kurt Ullr

Journal:

Year:

2009

Language:

english

File:

PDF, 390 KB

english, 2009

21

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease

Christian A. Hübner, Ulrike Orth, Arne Senning, Cordula Steglich, Alfried Kohlschütter, Rudolf Korinthenberg, Andreas Gal

Journal:

Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005

22

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

23

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe

René Santer, Johannes Rischewski, Michaela von Weihe, Marko Niederhaus, Sonja Schneppenheim, Kurt Baerlocher, Alfried Kohlschütter, Ania Muntau, Hans-Georg Posselt, Beat Steinmann, Reinhard Schneppenh

Journal:

Year:

2005

Language:

english

File:

PDF, 162 KB

english, 2005

24

Monitoring of Ubiquinol-10, Ubiquinone-10, Carotenoids, and Tocopherols in Neonatal Plasma Microsamples Using High-Performance Liquid Chromatography with Coulometric Electrochemical Detection

Barbara Finckh, Anatol Kontush, Jens Commentz, Christoph Hübner, Martin Burdelski, Alfried Kohlschütter

Journal:

Analytical Biochemistry

Year:

1995

Language:

english

File:

PDF, 109 KB

english, 1995

25

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

Joachim Kappler, Peter Leinekugel, Ernst Conzelmann, Wim J. Kleijer, Alfried Kohlschütter, Tønne Tønnesen, Michael Rochel, F. Freycon, Peter Propping

Journal:

Year:

1991

Language:

english

File:

PDF, 891 KB

english, 1991

26

Neuroradiological and neurophysiological indices for neurometabolic disorders

Alfried Kohlschütter

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 408 KB

english, 1994

27

MRI and MRS Findings in a Patient with Infantile Neuronal Ceroid Lipofuscinosis

Xiaoqi Ding, Zoltan Lukacs, Thomas Kucinski, Oliver Wittkugel, Dirk Kilian, Wanja Weisz, Alfried Kohlschütter, Hermann Zeumer

Journal:

Clinical Neuroradiology

Year:

2004

Language:

english

File:

PDF, 615 KB

english, 2004

28

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations

Robert Steinfeld, Alfried Kohlschütter, Johannes Zschocke, Martin Lindner, Kurt Ullrich, Zoltan Lukacs

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 73 KB

english, 2002

29

Radical trapping in glycogen storage disease 1a

Birgit Wittenstein, Marcus Klein, Barbara Finckh, Kurt Ullrich, Alfried Kohlschütter

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 92 KB

english, 2002

30

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

C. Zühlke, Franco Laccone, Mireille Cossée, Alfried Kohlschütter, Michel Koenig, Eberhard Schwinger

Journal:

Year:

1998

Language:

english

File:

PDF, 70 KB

english, 1998

31

Influence of diagnostic categories, age, and gender on antioxidative defense and lipid peroxidation in skeletal muscle of patients with neuromuscular diseases

Hans-Joerg Stuerenburg, Birgit Stangneth, Alfried Kohlschütter, Barbara Finckh

Journal:

Year:

2003

Language:

english

File:

PDF, 576 KB

english, 2003

32

Evaluating experimental treatment of leukodystrophies

ALFRIED KOHLSCHÜTTER

Journal:

Developmental Medicine & Child Neurology

Year:

2011

Language:

english

File:

PDF, 42 KB

english, 2011

33

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue

Sandra Pohl, Hannah M. Mitchison, Alfried Kohlschütter, Otto van Diggelen, Thomas Braulke, Stephan Storch

Journal:

Journal of Neurochemistry

Year:

2007

Language:

english

File:

PDF, 567 KB

english, 2007

34

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

Henneke, Marco, Diekmann, Simone, Ohlenbusch, Andreas, Kaiser, Jens, Engelbrecht, Volkher, Kohlschütter, Alfried, Krätzner, Ralph, Madruga-Garrido, Marcos, Mayer, Michèle, Opitz, Lennart

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 243 KB

english, 2009

35

Whole plasma oxidation assay as a measure of lipoprotein oxidizability

Anatol Kontush, Torsten Spranger, Axel Reich, Sirus Djahansouzi, Barbara Karten, Jan Hinrich Braesen, Barbara Finckh, Alfried Kohlschütter, Ulrike Beisiegel

Journal:

Year:

1997

Language:

english

File:

PDF, 250 KB

english, 1997

36

Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study

Xiao-Qi Ding, Annette Bley, Andreas Ohlenbusch, Alfried Kohlschütter, Jens Fiehler, Wenzhen Zhu, Heinrich Lanfermann

Journal:

Journal of Magnetic Resonance Imaging

Year:

2012

Language:

english

File:

PDF, 1005 KB

english, 2012

37

Effects of membrane lipid and fluidity modifications on HIV-1 infectibility of primate lymphocytesin vitro

J. Pascal Zimmer, Hans A. Lehr, Christoph Hübner, Stephan G. Lindner, Ralf Ramsperger, Matthias Claussen, Alfried Kohlschütter, Herbert Schmitz

Journal:

Bioscience Reports

Year:

1990

Language:

english

File:

PDF, 497 KB

english, 1990

38

Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes

Irene Gottlob, Klaus P. Leipert, Alfried Kohlschütter, Hans H. Goebel

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

1988

Language:

english

File:

PDF, 611 KB

english, 1988

39

Radical trapping in glycogen storage disease 1a

Wittenstein, Birgit, Klein, Marcus, Finckh, Barbara, Ullrich, Kurt, Kohlschütter, Alfried

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 473 KB

english, 2000

40

Towards understanding the neuronal ceroid lipofuscinoses

Alfried Kohlschütter, Angela Schulz

Journal:

Brain and Development

Year:

2009

Language:

english

File:

PDF, 163 KB

english, 2009

41

Impaired plasma antioxidative defense and increased nontransferrin-bound iron during high-dose chemotherapy and radiochemotherapy preceding bone marrow transplantation

Matthias Dürken, Christina Herrnring, Barbara Finckh, Sandra Nagel, Peter Nielsen, Roland Fischer, Howard M. Berger, Ralf M.W. Moison, Uwe Pichlmeier, Brigitte Kohlschütter, Axel R. Zander, Alfried Ko

Journal:

Free Radical Biology and Medicine

Year:

2000

Language:

english

File:

PDF, 364 KB

english, 2000

42

Beneficial effects of α-lipoic acid and ascorbic acid on endothelium-dependent, nitric oxide-mediated vasodilation in diabetic patients: relation to parameters of oxidative stress

Thomas Heitzer, Barbara Finckh, Sylvia Albers, Karoline Krohn, Alfried Kohlschütter, Thomas Meinertz

Journal:

Free Radical Biology and Medicine

Year:

2001

Language:

english

File:

PDF, 257 KB

english, 2001

43

Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemia

Birgit Wittenstein, Marcus Klein, Barbara Finckh, Kurt Ullrich, Alfried Kohlschütter

Journal:

Free Radical Biology and Medicine

Year:

2002

Language:

english

File:

PDF, 95 KB

english, 2002

44

Nontransferrin-bound Iron in Serum of Patients Receiving Bone Marrow Transplants

Matthias Dürken, Peter Nielsen, Sandra Knobel, Barbara Finckh, Christina Herrnring, Bernd Dresow, Brigitte Kohlschütter, Markus Stockschläder, William H Krüger, Alfried Kohlschütter, Axel R Zander

Journal:

Free Radical Biology and Medicine

Year:

1997

Language:

english

File:

PDF, 226 KB

english, 1997

45

Vitamin E and Neurological Problems in Childhood: a Curable Neurodegenerative Process

ALFRIED KOHLSCHUTTER

Journal:

Developmental Medicine & Child Neurology

Year:

1993

Language:

english

File:

PDF, 350 KB

english, 1993

46

Progress in Neuropathology of the Neuronal Ceroid Lipofuscinoses

Hans H. Goebel, Sydney S. Schochet, Margaret Jaynes, Wolfgang Brück, Alfried Kohlschütter, Faycal Hentati

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 521 KB

english, 1999

47

Membrane fluidity and lipid composition of rat small intestinal brush-border membranes during postnatal maturation

Christoph Hübner, Stephan G. Lindner, Martin Stern, Matthias Clausen, Alfried Kohlschütter

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

1988

Language:

english

File:

PDF, 440 KB

english, 1988

48

Antioxidative activity of ubiquinol-10 at physiologic concentrations in human low density lipoprotein

Anatol Kontush, Christoph Hübner, Barbara Finckh, Alfried Kohlschütter, Ulrike Beisiegel

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1995

Language:

english

File:

PDF, 997 KB

english, 1995

49

Phospholipid composition of cultivated skin fibroblasts in Duchenne's muscular dystrophy

Alfried Kohlschütter, Ulrich N. Wiesmann, Norbert N. Herschkowitz, Ernst Ferber

Journal:

Clinica Chimica Acta

Year:

1976

Language:

english

File:

PDF, 185 KB

english, 1976

50

Thermostability of α-mannosidase in plasma from cystic fibrosis patients and carriers

Alfried Kohlschütter, Helle Jacobsen

Journal:

Year:

1983

Language:

english

File:

PDF, 122 KB

english, 1983