S. Mole

H. Goebel, S. Mole, R. Gardiner, 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses

S. Mole, E. Gardner, 2021, Frontiers in Neurology.

The neuronal ceroid-lipofuscinoses (Batten disease)

S. Mole, M. Haltia, A. Schulz, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

Neuronal ceroid lipofuscinoses.

D. A. Nita, B. Minassian, S. Mole, 2016, Epileptic disorders : international epilepsy journal with videotape.

The neuronal ceroid lipofuscinoses : batten disease

S. Mole, M. Haltia, 2015 .

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

S. Mole, Ruth E. Williams, 2012, Neurology.

Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population

R. Badii, T. Ben-Omran, S. Mole, 2011, Journal of child neurology.

Neuronal ceroid lipofuscinoses (NCL) ARTICLE IN PRESS

S. Mole, 2006 .

btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis

Sandra Codlin, Y. Gachet, J. Hyams, 2005, Journal of Cell Science.

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset

G. Bedoya, A. Ruiz-Linares, W. Cornejo, 2005, Neurology.

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

Sandra Codlin, D. Cutler, S. Mole, 2004, Experimental cell research.

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

I. Saatci, M. Topcu, A. Dufke, 2004, Human mutation.

The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses

S. Mole, 2004, Brain pathology.

Neuronal ceroid lipofuscinoses (NCL).

S. Mole, 2004, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

A. Lehesjoki, S. Mole, W. Mitchell, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Batten's disease: eight genes and still counting?

S. Mole, 1999, The Lancet.

Neuronal ceroid lipofuscinoses.

S. Mole, 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Katherine R. Smith, S. Berkovic, M. Bahlo, 2016, Neurology.

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

S. Berkovic, J. Cooper, D. Medina, 2019, The Lancet Neurology.

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

Sandra Codlin, D. Cutler, S. Mole, 2007, Human molecular genetics.

CLN8 disease caused by large genomic deletions

R. Guerreiro, J. Bras, A. Taratuto, 2016, Molecular genetics & genomic medicine.

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease

T. Streichert, T. Braulke, S. Storch, 2011, Molecular medicine.

Molecular Genetics of the Neuronal Ceroid Lipofuscinoses

M. Gardiner, S. Mole, 1999, Epilepsia.

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation

S. Storch, Melanie Thelen, S. Mole, 2018, Human molecular genetics.

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p

Sandra Codlin, S. Mole, 2009, Journal of Cell Science.

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6

T. Braulke, S. Storch, A. Lehesjoki, 2007, Molecular membrane biology.

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

R. Boldrini, R. Carrozzo, N. Nardocci, 2009, Biochemical and biophysical research communications.

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

M. Breuning, P. Barth, S. Mole, 1995, American journal of human genetics.

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Katherine R. Smith, D. Dickson, S. Berkovic, 2012, American journal of human genetics.

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

R. Guerreiro, S. Schneider, J. Bras, 2012, Human molecular genetics.

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis

Á. Almeida, J. Bolaños, D. Medina, 2022, Nature communications.

Mitochondrial collapse links PFKFB3-promoted glycolysis with CLN7/MFSD8 neuronal ceroid lipofuscinosis pathogenesis

Á. Almeida, J. Bolaños, D. Medina, 2020, bioRxiv.

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

B. Ponder, C. Healey, J. Kwok, 1993, Nature.

Experimental gene therapies for the NCLs.

Wenfei Liu, R. Ali, Alexander J. Smith, 2020, Biochimica et biophysica acta. Molecular basis of disease.

Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease

J. Bähler, Julia Petschnigg, StJohn Townsend, 2021, Scientific Reports.

Molecular Genetics of the Neuronal Ceroid Lipofuscinoses

M. Gardiner, S. Mole, 1999, Epilepsia.

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

P. Munroe, F. Andermann, Y. Crow, 1998, Human molecular genetics.

Rapid diagnostic test for the major mutation underlying Batten disease.

P. Munroe, A. Syvänen, I. Järvelä, 1996, Journal of medical genetics.

Prenatal diagnosis of Batten's disease

P. Munroe, I. Järvelä, J. Rapola, 1996, The Lancet.

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

P. Munroe, S. Mole, H. Mitchison, 1999, Human mutation.

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.

I. Järvelä, S. Mole, H. Mitchison, 1995, American journal of human genetics.

Phenol sulfotransferases: candidate genes for Batten disease.

M. Siciliano, S. Mole, H. Mitchison, 1995, American journal of medical genetics.

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

B. Minassian, M. Kousi, A. Lehesjoki, 2009, Brain : a journal of neurology.

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

P. Taschner, Sandra Codlin, C. Korey, 2006, Biochimica et biophysica acta.

Analysis of CLN3-protein two-hybrid system interactions using the yeast

P. Munroe, N. Greene, S. Mole, 2001 .

Analysis of CLN3-protein interactions using the yeast two-hybrid system.

N. Greene, S. Mole, P. Munroe, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis

P. Munroe, T. Autti, E. Kirveskari, 1999, Neurology.

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

R. W. Janes, P. Munroe, B. Wallace, 1996, FEBS letters.

PTEN and prostate cancer.

R M Gardiner, P B Munroe, N D Greene, 1998, Journal of medical genetics.

A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.

T. Autti, L. Lauronen, S. Mole, 2009, Pediatric neurology.

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3

Sandra Codlin, S. Mole, R. Haines, 2009, Disease Models & Mechanisms.

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

P. Rothberg, A. Leman, S. Mole, 2006, Journal of Neuroscience Methods.

New mutations genes in the neuronal ceroid lipofuscinosis

P. Taschner, P. Franken, T. Salonen, 2001 .

New mutations in the neuronal ceroid lipofuscinosis genes.

P. Taschner, P. Franken, I. Järvelä, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Katherine R. Smith, F. Andermann, S. Berkovic, 2011, American journal of human genetics.

btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH

Sandra Codlin, S. Mole, R. Haines, 2008, Journal of Cell Science.

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1

A. Varma, R. Watts, S. Mole, 2007, Neurology.

Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1

S. Mole, M. Turmaine, M. Porter, 2005, Journal of neuroscience research.

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

S. Mole, R. Gardiner, R. Wheeler, 2003, Human mutation.

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

R. Schultz, S. Mole, J. Joslin, 2002, American journal of human genetics.

Analysis of Batten disease candidate genes STP and STM.

P. Munroe, S. Mole, H. Mitchison, 1995, American journal of medical genetics.

CLN7 mutation causes aberrant redistribution of protein isoforms and contributes to Batten disease pathobiology

J. Bolaños, T. McKay, A. Rahim, 2022, bioRxiv.

Gene therapy targeting the inner retina rescues the retinal phenotype in a mouse model of CLN3 Batten disease.

R. Ali, Alexander J. Smith, Sophia-Martha kleine Holthaus, 2020, Human gene therapy.

Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells.

M. Rizzi, A. Georgiadis, R. Ali, 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

A. Chapelle, T. Gilliam, M. Soares, 1999, Nature Genetics.

Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses.

R. Ali, Alexander J. Smith, Sophia-Martha kleine Holthaus, 2018, Advances in experimental medicine and biology.

Future perspectives: Moving towards NCL treatments.

S. Mole, S. Cotman, R. Kohan, 2015, Biochimica et biophysica acta.

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

H. Goebel, T. Mullen, Y. Shen, 2010, Neurology.

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

P. Munroe, H. Eiberg, P. Uvebrant, 2000, Ophthalmic genetics.

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

I. Järvelä, S. Mole, N. Doggett, 1995, American journal of medical genetics.

Rapiddiagnostic testforthemajormutation underlying Batten disease

P. Munroe, A. Syvänen, S. Mole, 1996 .

Neuronal ceroid lipofuscinoses.

S. Mole, 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The value of a comprehensive natural history in late infantile CLN5 disease

S. Mole, 2017, Developmental medicine and child neurology.

Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297))

P. Munroe, F. Andermann, Y. Crow, 1998 .

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6

W. Wurst, U. Kornak, M. Schweizer, 2006, Proceedings of the National Academy of Sciences.

Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease.

R. Mortishire-Smith, J. Griffin, Sandra Codlin, 2010, Molecular bioSystems.

Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.

P. Munroe, I. Järvelä, S. Mole, 1997, Neuropediatrics.

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

J. Cooper, S. Mole, 2020, Biochimica et biophysica acta. Molecular basis of disease.

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

S. Mole, A. Schulz, N. Miller, 2019, Human mutation.

The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.

P. Munroe, N. Greene, Y. Crow, 1999, Molecular genetics and metabolism.

NCLs and ER: A stressful relationship

S. Mole, E. Tinelli, D. Marotta, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Safe and stable generation of induced pluripotent stem cells using doggybone DNA vectors

R. Harbottle, T. McKay, S. Mole, 2021, Molecular therapy. Methods & clinical development.

underlying Batten disease . Rapid diagnostic test for the major mutation

P. Munroe, S. Mole, H. Mitchison, 2022 .

Analysis of candidate genes in the CLN6 critical region using in silico cloning.

R. Schultz, S. Mole, J. Joslin, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Involvement of the mitochondrial compartment in human NCL fibroblasts.

R. Carrozzo, A. Tessa, F. Santorelli, 2011, Biochemical and biophysical research communications.

Genomic structure of three CLN3-like genes in Caenorhabditis elegans.

P. Kuwabara, S. Mole, W. Mitchell, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

A. Ballabio, C. Grimm, L. Johannes, 2021, EMBO molecular medicine.

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2.

R. Norum, D. Easton, L. Mulligan, 1993, Human molecular genetics.

Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses

W. Heywood, K. Mills, P. Gissen, 2020, iScience.

CLN5 – Finnish variant late infantile NCL

Sara E. Mole, Leena Peltonen, Matti Haltia, 1999 .

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

Katherine R. Smith, F. Andermann, S. Berkovic, 2013, Human molecular genetics.

Mutation of TBCK causes a rare recessive developmental disorder

R. Guerreiro, J. Bras, S. Mole, 2016, Neurology: Genetics.

A central role for TOR signalling in a yeast model for juvenile CLN3 disease

J. Bähler, C. Rallis, S. Mole, 2015, Microbial cell.

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease

Amna Z. Shah, R. Ali, Alexander J. Smith, 2019, bioRxiv.

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.

Amna Z. Shah, R. Ali, Alexander J. Smith, 2019, Human molecular genetics.

Mice with a targeted disruption of the Batten disease gene (CLN3) display a progressive storage disorder

Sara E. Mole, Robert L. Nussbaum, Hannah M. Mitchison, 1998 .

Mutations in MFSD8/CLN7 are a frequent cause of variant‐late infantile neuronal ceroid lipofuscinosis

R. Boldrini, E. Bertini, R. Carrozzo, 2009, Human mutation.

CLN7 - Turkish variant late infantile NCL

S. Mole, W. Mitchell, B. Lake, 1999 .

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

T. Jacques, N. Wood, H. Houlden, 2014, Neurology.

Special edition: The NCLs/batten disease.

A. Rahim, S. Mole, Claire Russell, 2020, Biochimica et biophysica acta. Molecular basis of disease.

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

R. Guerreiro, J. Alroy, J. Bras, 2016, Journal of neuroscience research.

CLN6 disease caused by the same mutation originating in Pakistan has varying pathology

J. Bras, H. Stewart, V. Warrier, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

F. Andermann, J. Martín, E. Andermann, 1997, Neuropediatrics.

Nonalcoholic Fatty Liver

J. Utikal, S. Goerdt, M. Zeviani, 2018 .

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.

J. Cooper, F. Platt, Ana María Oller de Ramírez, 2015, Biochimica et biophysica acta.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Katherine R. Smith, F. Andermann, S. Berkovic, 2011, American journal of human genetics.

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

R. Boldrini, R. Carrozzo, N. Nardocci, 2009, Biochemical and biophysical research communications.

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.

J. Cooper, F. Platt, Ana María Oller de Ramírez, 2015, Biochimica et biophysica acta.

NIACIN DEFICIENCY

J. Utikal, S. Goerdt, M. Zeviani, 1952 .

Analysis of candidate genes in the CLN6 using in silico cloning critical region

R. Schultz, S. Mole, J. Joslin, 2001 .

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Ne

C. Broeckhoven, H. Hartmannová, S. Kmoch, 2011 .