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Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Science (American Association for the Advancement of Science), 2000-02, Vol.287 (5454), p.848-851

2000

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Additive Manufacturing Under Lunar Gravity and Microgravity

Microgravity science and technology, 2021-04, Vol.33 (2), Article 25

2021

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SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology

The Journal of pathology, 2003-11, Vol.201 (3), p.480-486

2003

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Adopt a Bacterium: a professional development opportunity for teacher assistants

FEMS microbiology letters, 2020-08, Vol.367 (16), p.1

2020

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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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effect of the rpoSam allele on gene expression and stress resistance in Escherichia coli

Archives of microbiology, 2014-08, Vol.196 (8), p.589-600

2014

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Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas

European journal of endocrinology, 2005-01, Vol.152 (1), p.87

2005

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Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1065-1080

2005

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Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Nature genetics, 1996-10, Vol.14 (2), p.191-194

1996

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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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Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease

Genomics (San Diego, Calif.), 1997-11, Vol.45 (3), p.541-553

1997

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Division behavior and shape changes in isogenic ftsZ, ftsQ, ftsA, pbpB, and ftsE cell division mutants of Escherichia coli during temperature shift experiments

Journal of Bacteriology, 1988-04, Vol.170 (4), p.1533-1540

1988

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Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

Annals of neurology, 2001-08, Vol.50 (2), p.269-272

2001

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Polymorphism of μ-opioid receptor gene (OPRM1:c.118a>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response

Anesthesiology (Philadelphia), 2005-03, Vol.102 (3), p.522-530

2005

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Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

Pediatric nephrology (Berlin, West), 1996-08, Vol.10 (4), p.403-407

1996

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Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR

Journal of medical genetics, 1997-11, Vol.34 (11), p.955-956

1997

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Replication of an incomplete alfalfa mosaic virus genome in plants transformed with viral replicase genes

Virology (New York, N.Y.), 1991-04, Vol.181 (2), p.445-450

1991

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First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

Prenatal diagnosis, 2001-02, Vol.21 (2), p.99-101

2001

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Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene

Genes chromosomes & cancer, 2001-07, Vol.31 (3), p.274-281

2001

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Phenotypic dichotomy in mitochondrial complex II genetic disorders

Journal of molecular medicine (Berlin, Germany), 2001-09, Vol.79 (9), p.495-503

2001

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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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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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First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

Prenatal diagnosis, 1999-06, Vol.19 (6), p.559-562

1999

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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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Cross-species homology of the CLN3 gene

Neuropediatrics, 1997-02, Vol.28 (1), p.18

1997

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Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Additive Manufacturing Under Lunar Gravity and Microgravity

SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology

Adopt a Bacterium: a professional development opportunity for teacher assistants

Spectrum of Mutations in the Batten Disease Gene, CLN3

effect of the rpoSam allele on gene expression and stress resistance in Escherichia coli

Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

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

Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease

Division behavior and shape changes in isogenic ftsZ, ftsQ, ftsA, pbpB, and ftsE cell division mutants of Escherichia coli during temperature shift experiments

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

Polymorphism of μ-opioid receptor gene (OPRM1:c.118a>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR

Replication of an incomplete alfalfa mosaic virus genome in plants transformed with viral replicase genes

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene

Phenotypic dichotomy in mitochondrial complex II genetic disorders

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

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

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

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

Cross-species homology of the CLN3 gene

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