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

Neurology, 2010-02, Vol.74 (7), p.565-571

2010

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Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses

Current pharmaceutical biotechnology, 2011-06, Vol.12 (6), p.867-883

2011

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

Neurology, 2007-01, Vol.68 (5), p.387-388

2007

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

Neurology, 2005-02, Vol.64 (4), p.740-742

2005

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

Human molecular genetics, 2013-04, Vol.22 (7), p.1417-1423

2013

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

Nature (London), 1993-06, Vol.363 (6428), p.458-460

1993

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Spectrum of Mutations in the Batten Disease Gene, CLN3

American journal of human genetics, 1997-08, Vol.61 (2), p.310-316

1997

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

Neurology, 1999-01, Vol.52 (2), p.360-360

1999

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Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits

Human molecular genetics, 1998-02, Vol.7 (2), p.291-297

1998

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Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2

Human molecular genetics, 1993-03, Vol.2 (3), p.247-252

1993

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Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses

Journal of inherited metabolic disease, 1996-01, Vol.19 (3), p.269-274

Mole, S. E.

1996

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

Human molecular genetics, 1993-03, Vol.2 (3), p.241-246

1993

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Prenatal diagnosis of Batten's disease

The Lancet (British edition), 1996-04, Vol.347 (9007), p.1014-1015

1996

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Rapid diagnostic test for the major mutation underlying Batten disease

Journal of medical genetics, 1996-12, Vol.33 (12), p.1041-1042

1996

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

American journal of human genetics, 1995-03, Vol.56 (3), p.654-662

1995

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

Genomics (San Diego, Calif.), 1993-08, Vol.17 (2), p.294-298

1993

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Genomic Structure and Complete Nucleotide Sequence of the Batten Disease Gene,CLN3

Genomics (San Diego, Calif.), 1997-03, Vol.40 (2), p.346-350

1997

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Structure and function of SV40 large-T antigen

Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 1987-12, Vol.317 (1187), p.455-469

1987

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A murine model for juvenile NCL: gene targeting of mouse Cln3

Molecular genetics and metabolism, 1999-04, Vol.66 (4), p.309-313

1999

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Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease)

Current opinion in neurology, 2001-12, Vol.14 (6), p.795-803

2001

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Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland

Journal of medical genetics, 1998-09, Vol.35 (9), p.790-790

1998

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Identification of a Transactivation Motif in the CLN3 Protein

IUBMB life, 2001-05, Vol.51 (5), p.295-298

2001

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The Molecular Basis of GROD-Storing Neuronal Ceroid Lipofuscinoses in Scotland

Molecular genetics and metabolism, 1999-04, Vol.66 (4), p.245-247

1999

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

American journal of human genetics, 1995-03, Vol.56 (3), p.663-668

1995

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Characterisation of a boundary between satellite III and alphoid sequences on human chromosome 10

Nucleic acids research, 1992-09, Vol.20 (18), p.4781-4787

1992

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

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses

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

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

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

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

Spectrum of Mutations in the Batten Disease Gene, CLN3

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

Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits

Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses

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

Prenatal diagnosis of Batten's disease

Rapid diagnostic test for the major mutation underlying Batten disease

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

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

Genomic Structure and Complete Nucleotide Sequence of the Batten Disease Gene,CLN3

Structure and function of SV40 large-T antigen

A murine model for juvenile NCL: gene targeting of mouse Cln3

Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease)

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland

Identification of a Transactivation Motif in the CLN3 Protein

The Molecular Basis of GROD-Storing Neuronal Ceroid Lipofuscinoses in Scotland

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

Characterisation of a boundary between satellite III and alphoid sequences on human chromosome 10

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