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1

Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy

Meier, Kolja, GÃ¤rtner, Jutta, Huppke, Peter

Journal:

Neurology: Neuroimmunology & Neuroinflammation

Year:

2021

File:

PDF, 330 KB

2021

2

Equilibrium Dehydrogenation of Ethane, Propane, and the Butanes

Frey, F. E., Huppke, W. F.

Journal:

Industrial & Engineering Chemistry

Year:

1933

Language:

english

File:

PDF, 791 KB

english, 1933

3

Handlungsempfehlung gemäß der LeitliniePädiatrische Multiple Sklerose

Prof. Dr. P. Huppke,Prof. Dr. J. Gärtner

Journal:

Monatsschrift Kinderheilkunde

Year:

2016

Language:

german

File:

PDF, 192 KB

german, 2016

4

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

5

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

6

Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy

Sabine Rudnik-Schöneborn, László Sztriha, Gururaj R. Aithala, Gunnar Houge, Liv M. Lægreid, Jürgen Seeger, Michael Huppke, Brunhilde Wirth, Klaus Zerres

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 282 KB

english, 2003

7

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

8

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

Franco Laccone, Ivonne Jünemann, Sharon Whatley, Rhian Morgan, Rachel Butler, Peter Huppke, David Ravine

Journal:

Year:

2004

Language:

english

File:

PDF, 534 KB

english, 2004

9

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

Franco Laccone, Ivonne Jünemann, Sharon Whatley, Rhian Morgan, Rachel Butler, Peter Huppke, David Ravine

Journal:

Year:

2004

Language:

english

File:

PDF, 106 KB

english, 2004

10

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

F. Laccone, P. Huppke, F. Hanefeld, M. Meins

Journal:

Year:

2001

Language:

english

File:

PDF, 244 KB

english, 2001

11

EEG Features of Glut-1 Deficiency Syndrome

Arpad Von Moers, Knut Brockmann, Dong Wang, Christoph G. Korenke, Peter Huppke, Darryl C. De Vivo, Folker Hanefeld

Journal:

Year:

2002

Language:

english

File:

PDF, 263 KB

english, 2002

12

Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency

M. Lakomek, P. Huppke, B. Neubauer, A. Pekrun, H. Winkler, W. Schröter

Journal:

Annals of Hematology

Year:

1994

Language:

english

File:

PDF, 1.05 MB

english, 1994

13

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

14

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

15

Eosinophilic fasciitis leading to painless contractures

Peter Huppke, Bernd Wilken, Knut Brockmann, Bernd Sattler, Folker Hanefeld

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 102 KB

english, 2002

16

Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia

P. Huppke, D. Wünsch, A. Pekrun, R. Kind, H. Winkler, W. Schröter, M. Lakomek

Journal:

European Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 278 KB

english, 1997

17

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

18

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

19

UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation

Y. S. Shin, G.-C. Korenke, P. Huppke, I. Knerr, T. Podskarbi

Journal:

Journal of Inherited Metabolic Disease

Year:

2000

Language:

english

File:

PDF, 52 KB

english, 2000

20

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

Peter Huppke, Cornelia Brendel, Georg Christoph Korenke, Iris Marquardt, Anthony Donsante, Ling Yi, Julia D. Hicks, Peter J. Steinbach, Callum Wilson, Orly Elpeleg, Lisbeth Birk Møller, John Christodo

Journal:

Year:

2012

Language:

english

File:

PDF, 475 KB

english, 2012

21

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

Peter Huppke, Cornelia Brendel, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaele Pitelet, Callum Wilson, Ursula Gruber-Sedlmayr,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 30 KB

english, 2012

22

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

Peter Huppke, Cornelia Brendel, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaele Pitelet, Callum Wilson, Ursula Gruber-Sedlmayr,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 544 KB

english, 2012

23

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

24

The spectrum of phenotypes in females with Rett Syndrome

Peter Huppke, Melanie Held, Franco Laccone, Folker Hanefeld

Journal:

Brain and Development

Year:

2003

Language:

english

File:

PDF, 135 KB

english, 2003

25

Endocrinological study on growth retardation in Rett syndrome

P Huppke, C Roth, HJ Christen, K Brockmann, F Hanefeld

Journal:

Acta Paediatrica

Year:

2001

Language:

english

File:

PDF, 147 KB

english, 2001

26

Periventricular heterotopia: Identifying homogeneity among heterogeneity

Pandolfo, M., Depondt, C., Huppke, P.

Journal:

Year:

2012

Language:

english

File:

PDF, 161 KB

english, 2012

27

Induction and detection of long-lasting peptide-specific antibody responses in pigs and beef cattle: a powerful technology for tracing meat processing chains from stock farmers to sales counters

Annett Raschke, Sandra Strich, Stephanie Huppke, Markus Neugebauer, Eugen Geuther, Wolf Bertling, Birgit Walders, Christian Reiser, Juergen Hess

Journal:

Year:

2006

Language:

english

File:

PDF, 319 KB

english, 2006

28

Immunoglobulin Therapy in Idiopathic Hypothalamic Dysfunction

Peter Huppke, Alexander Heise, Kevin Rostasy, Brenda Huppke, Jutta Gärtner

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 126 KB

english, 2009

29

Spontaneous central apneas occur in the C57BL/6J mouse strain

Georg M. Stettner, Sébastien Zanella, Peter Huppke, Jutta Gärtner, Gérard Hilaire, Mathias Dutschmann

Journal:

Respiratory Physiology & Neurobiology

Year:

2008

Language:

english

File:

PDF, 488 KB

english, 2008

30

Indication for genetic testing: A checklist for Rett syndrome

Peter Huppke, Karola Köhler, Franco Laccone, Folker Hanefeld

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 133 KB

english, 2003

31

MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin

R. Trappe, F. Laccone, J. Cobilanschi, M. Meins, P. Huppke, F. Hanefeld, W. Engel

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 182 KB

english, 2001

32

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)

Zirn, B, Grundmann, K, Huppke, P, Puthenparampil, J, Wolburg, H, Riess, O, Muller, U

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2008

Language:

english

File:

PDF, 594 KB

english, 2008

33

THE ACTIVITY COEFFICIENTS AND TRANSFERENCE NUMBERS OF BARIUM BROMIDE

Gelbach, Ralph W., Huppke, Walter F.

Journal:

Journal of the American Chemical Society

Year:

1926

Language:

english

File:

PDF, 178 KB

english, 1926

34

Chemokine-mediated redirection of T cells constitutes a critical mechanism of glucocorticoid therapy in autoimmune CNS responses

Schweingruber, Nils, Fischer, Henrike J., Fischer, Lisa, van den Brandt, Jens, Karabinskaya, Anna, Labi, Verena, Villunger, Andreas, Kretzschmar, Benedikt, Huppke, Peter, Simons, Mikael, Tuckermann, J

Journal:

Acta Neuropathologica

Year:

2014

Language:

english

File:

PDF, 1.21 MB

english, 2014

35

Methotrexate treatment of FraX fibroblasts results inFMR1transcription but not in detectable FMR1 protein levels

Brendel, Cornelia, Mielke, Benjamin, Hillebrand, Merle, Gärtner, Jutta, Huppke, Peter

Journal:

Journal of Neurodevelopmental Disorders

Year:

2013

Language:

english

File:

PDF, 459 KB

english, 2013

36

Clinical presentation of pediatric multiple sclerosis before puberty

Huppke, B., Ellenberger, D., Rosewich, H., Friede, T., Gärtner, J., Huppke, P.

Journal:

European Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 483 KB

english, 2014

37

P274 – 2135 Acetyl Co A deficit: first prenatal diagnosis. Biochemeical, molecular and ultrasound data in an affected fetus

Pitelet, G, Paquis, V, Trastour, C, Chami, M, Rouzier, C, Huppke, P, Giuliano, F

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 63 KB

english, 2013

38

Failure of pallidal deep brain stimulation in a case of rapid-onset dystonia parkinsonism (DYT12)

Brücke, C., Ebner, S., Horn, A., Gärtner, J., Huppke, P., Kupsch, A., Schneider, G.-H., Kühn, A.A.

Journal:

Year:

2013

Language:

english

File:

PDF, 185 KB

english, 2013

39

Acute disseminated encephalomyelitis followed by recurrent or monophasic optic neuritis in pediatric patients

Huppke, P., Rostasy, K., Karenfort, M., Huppke, B., Seidl, R., Leiz, S., Reindl, M., Gartner, J.

Journal:

Multiple Sclerosis Journal

Year:

2013

Language:

english

File:

PDF, 816 KB

english, 2013

40

The expanding clinical and genetic spectrum of ATP1A3-related disorders

Rosewich, H., Ohlenbusch, A., Huppke, P., Schlotawa, L., Baethmann, M., Carrilho, I., Fiori, S., Lourenco, C. M., Sawyer, S., Steinfeld, R., Gartner, J., Brockmann, K.

Journal:

Year:

2014

Language:

english

File:

PDF, 496 KB

english, 2014

41

MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis

Weygandt, Martin, Hummel, Hannah-Maria, Schregel, Katharina, Ritter, Kerstin, Allefeld, Carsten, Dommes, Esther, Huppke, Peter, Haynes, JohnDylan, Wuerfel, Jens, Gärtner, Jutta

Journal:

NeuroImage: Clinical

Year:

2015

Language:

english

File:

PDF, 1.62 MB

english, 2015

42

Novel mechanisms of glucocorticoids in the treatment of multiple sclerosis

Fischer, Henrike J., Schweingruber, Nils, Lühder, Fred, Simons, Mikael, Huppke, Peter, Reichardt, Holger M.

Journal:

Journal of Neuroimmunology

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

43

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

Journal:

Human Molecular Genetics

Year:

2000

Language:

english

File:

PDF, 411 KB

english, 2000

44

JC virus antibody status in a pediatric multiple sclerosis cohort: Prevalence, conversion rate and influence on disease severity

Huppke, P., Hummel, H., Ellenberger, D., Pfeifenbring, S., Stark, W., Huppke, B., Bruck, W., Gartner, J.

Journal:

Multiple Sclerosis Journal

Year:

2015

Language:

english

File:

PDF, 774 KB

english, 2015

45

Extensive acute axonal damage in pediatric multiple sclerosis lesions

Pfeifenbring, Sabine, Bunyan, Reem F., Metz, Imke, Röver, Christian, Huppke, Peter, Gärtner, Jutta, Lucchinetti, Claudia F., Brück, Wolfgang

Journal:

Annals of Neurology

Year:

2015

Language:

english

File:

PDF, 1.46 MB

english, 2015

46

From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1

Kettwig, Matthias, Schubach, Max, Zimmermann, Franz A., Klinge, Lars, Mayr, Johannes A., Biskup, Saskia, Sperl, Wolfgang, Gärtner, Jutta, Huppke, Peter

Journal:

Year:

2015

Language:

english

File:

PDF, 1.85 MB

english, 2015

47

Very mild cases of Rett syndrome with skewed X inactivation

Huppke, P, Maier, E M, Warnke, A, Brendel, C, Laccone, F, Gartner, J

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 277 KB

english, 2006

48

Molecular Diagnosis of Rett Syndrome

Huppke, P., Gartner, J.

Journal:

Journal of Child Neurology

Year:

2005

Language:

english

File:

PDF, 145 KB

english, 2005

49

Apheresis in treatment of acute inflammatory demyelinating disorders

Mühlhausen, Johannes, Kitze, Bernd, Huppke, Peter, Müller, Gerhard A., Koziolek, Michael J.

Journal:

Atherosclerosis Supplements

Year:

2015

Language:

english

File:

PDF, 349 KB

english, 2015

50

Anti–Myelin Oligodendrocyte Glycoprotein Antibodies in Pediatric Patients With Optic Neuritis

Rostasy, Kevin, Mader, Simone, Schanda, Kathrin, Huppke, Peter, Gärtner, Jutta, Kraus, Verena, Karenfort, Michael, Tibussek, Daniel, Blaschek, Astrid, Bajer-Kornek, Barbara, Leitz, Steffen, Schimmel,

Journal:

Archives of Neurology

Year:

2012

Language:

english

File:

PDF, 143 KB

english, 2012

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