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1

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

Sara E. Mole, Ruth E. Williams, Hans H. Goebel

Journal:

Year:

2005

Language:

english

File:

PDF, 370 KB

english, 2005

2

Involvement of the mitochondrial compartment in human NCL fibroblasts

Francesco Pezzini, Floriana Gismondi, Alessandra Tessa, Paola Tonin, Rosalba Carrozzo, Sara E. Mole, Filippo M. Santorelli, Alessandro Simonati

Journal:

Biochemical and Biophysical Research Communications

Year:

2011

Language:

english

File:

PDF, 816 KB

english, 2011

3

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

Faller, Kiterie M.E., Bras, Jose, Sharpe, Samuel J., Anderson, Glenn W., Darwent, Lee, Kun-Rodrigues, Celia, Alroy, Joseph, Penderis, Jacques, Mole, Sara E., Gutierrez-Quintana, Rodrigo, Guerreiro, Ri

Journal:

Journal of Neuroscience Research

Year:

2016

Language:

english

File:

PDF, 660 KB

english, 2016

4

Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?

Cooper, Jonathan D., Mole, Sara E.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2020

Language:

english

File:

PDF, 598 KB

english, 2020

5

Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5

Sara E. Mole, Hannah M. Mitchison, Patricia B. Munroe

Journal:

Year:

1999

Language:

english

File:

PDF, 390 KB

english, 1999

6

Analysis of Batten disease candidate genes STP and STM

Patricia B. Munroe, Hannah M. Mitchison, Thomas P. Dooley, R. Mark Gardiner, Sara E. Mole

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 296 KB

english, 1995

7

Phenol sulfotransferases: Candidate genes for Batten disease

Thomas P. Dooley, Pam Probst, R. Dawn Obermoeller, Michael J. Siciliano, Norman A. Doggett, David F. Callen, Hannah M. Mitchison, Sara E. Mole

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 687 KB

english, 1995

8

Physical map of the region containing the gene for Batten disease (CLN3)

Irma E. Järvelä, Hannah M. Mitchison, David F. Callen, Terry J. Lerner, Norman A. Doggett, Peter E. M. Taschner, R. Mark Gardiner, Sara E. Mole

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 337 KB

english, 1995

9

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

Julie D. Sharp, Ruth B. Wheeler, Keith A. Parker, R. Mark Gardiner, Ruth E. Williams, Sara E. Mole

Journal:

Year:

2003

Language:

english

File:

PDF, 171 KB

english, 2003

10

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

Susanna Ranta, Meral Topcu, Saara Tegelberg, Hüseyin Tan, Alp Üstübütün, Isil Saatci, Andreas Dufke, Herbert Enders, Keith Pohl, Yves Alembik, Wayne A. Mitchell, Sara E. Mole, Anna-Elina Lehesjoki

Journal:

Year:

2004

Language:

english

File:

PDF, 242 KB

english, 2004

11

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

12

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6

Anna-Katherina Kurze, Giovanna Galliciotti, Claudia Heine, Sara E. Mole, Arne Quitsch, Thomas Braulke

Journal:

Year:

2010

Language:

english

File:

PDF, 370 KB

english, 2010

13

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

Maria Kousi, Anna-Elina Lehesjoki, Sara E. Mole

Journal:

Year:

2012

Language:

english

File:

PDF, 1.01 MB

english, 2012

14

Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1

Morwenna Y. Porter, Mark Turmaine, Sara E. Mole

Journal:

Journal of Neuroscience Research

Year:

2005

Language:

english

File:

PDF, 833 KB

english, 2005

15

Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G > C and R208X in CLN2

Adam R. Leman, Susan Polochock, Sara E. Mole, David A. Pearce, Paul G. Rothberg

Journal:

Journal of Neuroscience Methods

Year:

2006

Language:

english

File:

PDF, 347 KB

english, 2006

16

Effects of the increase in neuronal fatty acids availability on food intake and satiety in mice

Roberto Coccurello, Antonio Caprioli, Sara Bellantuono, Francesca R. D’Amato, Roberto Conti, Fabio Giannessi, Franco Borsini, Anna Moles

Journal:

Psychopharmacology

Year:

2010

Language:

english

File:

PDF, 292 KB

english, 2010

17

Molecular Genetics of the Neuronal Ceroid Lipofuscinoses

Sara Mole, Mark Gardiner

Journal:

Year:

1999

Language:

english

File:

PDF, 431 KB

english, 1999

18

btn1 Affects Endocytosis, Polarization of Sterol-Rich Membrane Domains and Polarized Growth in Schizosaccharomyces pombe

Sandra Codlin, Rebecca L. Haines, Sara E. Mole

Journal:

Year:

2008

Language:

english

File:

PDF, 1023 KB

english, 2008

19

The Genetic Spectrum of Human Neuronal Ceroid-lipofuscinoses

Journal:

Brain Pathology

Year:

2004

Language:

english

File:

PDF, 122 KB

english, 2004

20

10.1038/13868

Ranta, Susanna, Zhang, Yonghui, Ross, Barbara, Lonka, Liina, Takkunen, Elina, Messer, Anne, Sharp, Julie, Wheeler, Ruth, Kusumi, Kenro, Mole, Sara, Liu, Wencheng, Soares, Marcelo Bento, de Fatima Bona

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 431 KB

english, 1999

21

Epitope mapping

Journal:

Molecular Biotechnology

Year:

1994

Language:

english

File:

PDF, 1.29 MB

english, 1994

22

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E. Mole, John F. Staropoli, Katherine B. Sims, Jad

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 425 KB

english, 2012

23

Neuronal ceroid lipofuscinoses (NCL)

Journal:

European Journal of Paediatric Neurology

Year:

2004

Language:

english

File:

PDF, 56 KB

english, 2004

24

Neuronal ceroid lipofuscinoses (NCL)

Journal:

European Journal of Paediatric Neurology

Year:

2006

Language:

english

File:

PDF, 164 KB

english, 2006

25

The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data

Timothy Nugent, Sara E. Mole, David T. Jones

Journal:

Year:

2008

Language:

english

File:

PDF, 391 KB

english, 2008

26

Neuronal ceroid lipofuscinoses (NCL)

Journal:

European Journal of Paediatric Neurology

Year:

1997

Language:

english

File:

PDF, 62 KB

english, 1997

27

Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses London, UK, 13–16 November 1997

Sara E Mole, R Mark Gardiner, Hans H Goebel

Journal:

European Journal of Paediatric Neurology

Year:

1998

Language:

english

File:

PDF, 405 KB

english, 1998

28

Neuronal ceroid lipofuscinoses

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 59 KB

english, 1999

29

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

30

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

31

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

32

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

33

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

34

Gene table: Neuronal ceroid lipofuscinoses

Journal:

European Journal of Paediatric Neurology

Year:

2002

Language:

english

File:

PDF, 59 KB

english, 2002

35

Neuronal ceroid lipofuscinoses

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

36

Assignment of Fifty-Four Cosmid Clones to Five Regions of Chromosome 10

Sara E. Mole, Michael S. Jackson, Takashi Tokino, Yusuke Nakamura, Bruce A.J. Ponder

Journal:

Year:

1993

File:

PDF, 115 KB

1993

37

Assignment of the Human Pulmonary Surfactant Protein D Gene (SFTP4) to 10q22-q23 Close to the Surfactant Protein A Gene Cluster

Konrad Kölble, Jinhua Lu, Sara E. Mole, Stefan Kaluz, Kenneth B.M. Reid

Journal:

Year:

1993

File:

PDF, 358 KB

1993

38

Batten Disease: Four Genes and Still Counting

Journal:

Neurobiology of Disease

Year:

1998

Language:

english

File:

PDF, 159 KB

english, 1998

39

Molecular genetics of the NCLs — status and perspectives

Eija Siintola, Anna-Elina Lehesjoki, Sara E Mole

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2006

Language:

english

File:

PDF, 189 KB

english, 2006

40

Characterizing pathogenic processes in Batten disease: Use of small eukaryotic model systems

Seasson N. Phillips, Neda Muzaffar, Sandra Codlin, Christopher A. Korey, Peter E.M. Taschner, Gert de Voer, Sara E. Mole, David A. Pearce

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2006

Language:

english

File:

PDF, 1.75 MB

english, 2006

41

Special issue: Molecular basis of NCL

Sara E. Mole, Glyn Dawson, Anu Jalanko

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2006

Language:

english

File:

PDF, 82 KB

english, 2006

42

A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course

Laura Åberg, Leena Lauronen, Janne Hämäläinen, Sara E. Mole, Taina Autti

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 143 KB

english, 2009

43

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

Sara E Mole, Gregoire Michaux, Sandra Codlin, Ruth B Wheeler, Julie D Sharp, Daniel F Cutler

Journal:

Experimental Cell Research

Year:

2004

Language:

english

File:

PDF, 439 KB

english, 2004

44

124. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

Angela Schulz, Anne-Helene Lebrun, Stephan Storch, R∣schendorf Franz, Mia-Lisa Schmiedt, Aija Kyttdlld, Sara E. Mole, Claudia Kitzm∣ller, Leena D. Mewasingh, Volker Boda, Kurt Ullrich, Alfried Kohlsch

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

45

Determination of a diabetes control and complications trial-aligned HbA1c reference range in pregnancy

Maurice J O'Kane, Patrick L.M Lynch, Kenneth W Moles, Sara E Magee

Journal:

Clinica Chimica Acta

Year:

2001

Language:

english

File:

PDF, 74 KB

english, 2001

46

A model for Batten disease protein CLN3: Functional implications from homology and mutations

Robert W. Janes, Patricia B. Munroe, Hannah M. Mitchison, R. Mark Gardiner, Sara E. Mole, B.A. Wallace

Journal:

Year:

1996

Language:

english

File:

PDF, 381 KB

english, 1996

47

Batten's disease: eight genes and still counting?

Journal:

Year:

1999

Language:

english

File:

PDF, 46 KB

english, 1999

48

Genetics and development

Sibylle Mittnacht, Rein Aasland, Robert O.J Weinzierl, R.Mark Gardiner, Michele Rees, Sara E Mole, Hannah M Mitchison, Richard Benton, Neil Hukriede, Michael Tsang, Mike Jones, Tracy Ferea

Journal:

Current Opinion in Genetics & Development

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

49

Genetics and development

Sibylle Mittnacht, Rein Aasland, Robert O.J Weinzierl, R.Mark Gardiner, Michele Rees, Sara E Mole, Hannah M Mitchison, Mike Jones, Richard Benton, Neil Hukriede, Tracy Ferea

Journal:

Current Opinion in Genetics & Development

Year:

2001

Language:

english

File:

PDF, 59 KB

english, 2001

50

Paper alert: Genetics and development

Sibylle Mittnacht, Robert O.J Weinzierl, R.Mark Gardiner, Michele Rees, Sara E Mole, Hannah M Mitchison, Mike Jones, Richard Benton, Neil Huckriede, Michael Tsang, Tracy Ferea

Journal:

Current Opinion in Genetics & Development

Year:

2001

Language:

english

File:

PDF, 77 KB

english, 2001