Volume 5; Issue supp-S1

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European Journal of Paediatric Neurology
Volume 5; Issue supp-S1

European Journal of Paediatric Neurology

Volume 5; Issue supp-S1

1

An Australasian diagnostic service for the neuronal ceroid lipofuscinoses

Vivienne J. Muller, Barbara C. Paton, Michael I. Fietz

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 426 KB

english, 2001

2

Hippocampal lesions in the neuronalceroid lipofuscinoses

Matti Haltia, Riitta Herva, Jaana Suopanki, Marc Baumann, Jaana Tyynelä

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 502 KB

english, 2001

3

Batten disease research - where we were— where we are — where we are going

J. Alfred Rider, Dean I. Rider

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 201 KB

english, 2001

4

New mutations in the neuronal ceroid lipofuscinosisgenes

Sara E. Mole, Nanbert A. Zhong, Akosua Sarpong, W. Peter Logan, Sandra Hofmann, Won Yi, Patrick F. Franken, Otto P. Van Diggelen, Martijn H. Reuning, Dorota Moroziewicz, Weina Ju, Tarja Salonen, Ville

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 244 KB

english, 2001

5

Lysosomal membrane proteins

Bryan G. Winchester

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 1.18 MB

english, 2001

6

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8

Wayne A. Mitchell, Ruth B. Wheeler, Julie D. Sharp, S. Louise Bate, R. Mark Gardiner, U. Susanna Ranta, Liina Lonka, Ruth E. Williams, Anna-Elina Lehesjoki, Sara E. Mole

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 887 KB

english, 2001

7

Analysis of candidate genes in the CLN6 critical regionusing in silico cloning

Julie D. Sharp, Ruth B. Wheeler, Roger A. Schultz, John M. Joslin, Sara E. Mole, Ruth E. Williams, R. Mark Gardiner

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 189 KB

english, 2001

8

Fine mapping of ovine ceroid lipofuscinosisconfirms orthology with CLN6

Murray F. Broom, Chaoming Zhou

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 222 KB

english, 2001

9

Neuronal ceroid lipofuscinosis in Australian Merino sheep: a new animal model

Imke Tammen, Roger W. Cook, Frank W. Nicholas, Herman W. Raadsma

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 344 KB

english, 2001

10

Congenital ovine neuronal ceroid lipofuscinosis — acathepsin D deficiency with increased levels of the inactive enzyme

Jaana Tyynelä, Istvan Sohar, David E. Sleat, Rosalie M. Gin, Robert J. Don Nelly, Marc Baumann, Matti Haltia, Peter Lobel

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 601 KB

english, 2001

11

Infantile neuronal ceroid lipofuscinosis:no longer just a ‘Finnish’ disease

Sandra L. Hofmann, Amit K. Das, Jui-Yun Lu, Krystyna E. Wisniewski, Praveena Gupta

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 514 KB

english, 2001

12

Role of palmitoyl protein thioesterase in cell death:implications for infantile neuronal ceroid lipofuscinosis

Seongeun Cho, Philip E. Dawson, Glyn Dawson

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 191 KB

english, 2001

13

Aminoglycoside-mediated suppression of nonsensemutations in late infantile neuronal ceroid lipofuscinosis

David E. Sleat, Istvan Sohar, Rosalie M. Gin, Peter Lobel

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 473 KB

english, 2001

14

Specific substrate for CLN2 proteaseltripeptidylpeptidaseI assay

Mohammed A. Junaid, Susan Sklower Brooks, Raju K. Pullarkat

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 739 KB

english, 2001

15

The substrate range of tripeptidyl-peptidase I

Francesca Bernardini, Michael J. Warburton

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 273 KB

english, 2001

16

Tripeptidyl-peptidase 1 in neuronal ceroid lipofuscinoses and other lysosomal storage disorders

Krystyna E. Wisniewski, Elizabeth Kida, Mariusz Walus, Peter Wujek, Wojciech Kaczmarski, Adam A. Golabek

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 3.12 MB

english, 2001

17

A yeast model for classical juvenile Batten disease(CLN3)

Karen J. Barwell, Murray F. Broom

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 261 KB

english, 2001

18

CLN3 disease process: missense point mutations and protein depletion in vitro

Adam A. Golabek, Elizabeth Kida, Mariusz Walus, Wojciech Kaczmarski, Piotr Wujek, Krystyna E. Wisniewski

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 4.19 MB

english, 2001

19

Analysis of CLN3-protein interactions using the yeasttwo-hybrid system

Kit-Yi Leung, Nicholas D.E. Greene, Patricia B. Munroe, Sara E. Mole

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 700 KB

english, 2001

20

Searching for interacting partners of CLN 1, CLN2 and Btn1p with the two-hybrid system

Charles D. Cottone, Subrata Chattopadhyay, David A. Pearce

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 378 KB

english, 2001

21

CLN-3 Protein is expressed in the pancreatic somatostatin-secreting delta cells 1

Richard L. Boriack, Michael J. Bennett

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 2.95 MB

english, 2001

22

High resolution MRI reveals global changes in brains of Cln3 mutant mice

Nicholas D.E. Greene, Mark F. Lythgoe, David L. Thomas, Robert L. Nussbaum, David J. Bernard, Hannah M. Mitchison

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 1.14 MB

english, 2001

23

Mouse gene knockout models for the CLN2and CLN3 forms of ceroid lipofuscinosis

Martin L. Katz, Gary S. Johnson

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 1.03 MB

english, 2001

24

Caenorhabditis elegans homologues of the CLN3 gene,mutated in juvenile neuronal ceroid lipofuscinosis

Gert De Voer, Gert Jansen, Gert-Jan B. Van Ommen, Dorien J.M. Peters, Peter E.M. Taschner

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 555 KB

english, 2001

25

Genomic structure of three CLN3-like genes in Caenorhabditis elegans

Wayne A. Mitchell, Morwenna Porter, Patricia Kuwabara, Sara E. Mole

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 440 KB

english, 2001

26

Changes in GABAergic neuron distribution in situ and in neuron cultures in ovine (OCL6) Batten disease

Manfred J. Oswald, Graham W. Kay, David N. Palmer

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 3.93 MB

english, 2001

27

Altered levels of high-energy phosphate compoundsin fibroblasts from different forms of neuronal ceroid lipofuscinoses: further evidence for mitochondria) involvement

Anibh M. Das, Remko Von Harlem, Miriam Feist, Thomas Lücke, Alfried Kohlschotter

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 319 KB

english, 2001

28

Batten disease and the control of the Fo subunit c pore by cGMP and calcium

Julie E.M. McGeoch, Guido Guidotti

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 302 KB

english, 2001

29

Assessment of dietary therapies in a canine model of Batten disease

Aristotle N. Siakotos, Gary D. Hutchins, Martin R. Farlow, Martin L. Katz

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 588 KB

english, 2001

30

Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders

Pirkko Santavuori, Sanna-Leena Vanhanen, Taina Autti

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 412 KB

english, 2001

31

New antidepressive and antipsychotic drugs in juvenile neuronal ceroid lipofuscinoses — a pilot study

Maria L. Bäckman, Laura E. berg, Eeva T. Aronen, Pirkko R. Santavuori

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 324 KB

english, 2001

32

Northern epilepsy syndrome (NES, CLN8) — MRI and electrophysiological studies

L. Lauronen, P. Santavuori, A. Hirvasniemi, E. Kirveskari, J. Huttunen, T. Autti

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 1.18 MB

english, 2001

33

Transdermal fentanyl therapy for pains in children withinfantile neuronal ceroid lipofuscinosis

Minna K. Mannerkoski, Hannu J. Heiskala, Pirkko R.A. Santavuori, Jukka A. Pouttu

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 252 KB

english, 2001

34

Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis

Andreo Larsen, Kimmo Sainio, Laura berg, Pirkko Santavuori

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 356 KB

english, 2001

35

Impaired temporo-occipital blood flow in an atypical CLN1 case with late infantile onset and granular osmiophilic deposits

Michel Philippart, Ismael Mena, Krystyna E. Wisniewski, Gregory Pineda

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 199 KB

english, 2001

36

Pre- and postnatal enzyme analysis for infantile,late infantile and adult neuronal ceroid lipofuscinosis (CLN 1 and CLN2)

O.P. Van Diggelen, J.L.M. Keulemans, W.J. Kleijer, S. Thobois, C. Tilikete, Y.V. Voznyi

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 337 KB

english, 2001

37

Pre- and postnatal diagnosis of patients withCLN1 and CLN2 by assay of palmitoyl protein thioesterase and tripeptidyl peptidase I activities

Elisabeth P. Young, Viki C. Worthington, Marie Jackson, Bryan G. Winchester

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 328 KB

english, 2001

38

Morphological studies on CLN2

Hans H. Goebel, Eiki Kominami, Eva Neuen-Jacob, Ruth B. Wheeler

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 1.91 MB

english, 2001

39

Cardiac pathology in neuronal ceroid lipofuscinoses —a clinicopathologic correlation in three patients

Irene L. Ofman, Allard C. Van Der Wal, Koert P. Dingemans, Anton E. Becker

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 1.84 MB

english, 2001

40

The 8th International Congress on Neuronal CeroidLipofuscinoses (Batten Disease)

Mark Gardiner, Sara Mole, Hannah Mitchison

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 91 KB

english, 2001

41

ATP synthase activity in ovine ceroid lipofuscinosis [OCL 6]

Robert D. Jolly, Sheryl L. Bayliss, Anibh Das, Delwyn G. Cooke, Simon Browns

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 347 KB

english, 2001