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Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

American journal of human genetics, 2005-12, Vol.77 (6), p.966-987

2005

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Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales

Journal of psychiatric research, 2002-11, Vol.36 (6), p.377-382

2002

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Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

American journal of human genetics, 2000-07, Vol.67 (1), p.14-22

2000

Volltextzugriff (PDF)

The weaver mutation changes the ion selectivity of the affected inwardly rectifying potassium channel GIRK2

FEBS letters, 1996-07, Vol.390 (1), p.63-68

1996

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Genetics of Pelizaeus-Merzbacher disease

Developmental neuroscience, 1993, Vol.15 (6), p.383

1993

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Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

Neurology, 1996-11, Vol.47 (5), p.1333

1996

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Coupled reverse transcription-polymerase chain reaction (RT-PCR) as a sensitive and rapid method for isozyme genotyping

Gene, 1990-09, Vol.93 (2), p.271-275

1990

Volltextzugriff (PDF)

A male child with the rumpshaker mutation, X‐linked spastic paraplegia/Pelizaeus‐Merzbacher disease and lysinuria

Journal of inherited metabolic disease, 1997-11, Vol.20 (6), p.811-816

1997

Volltextzugriff (PDF)

Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15

Genomics (San Diego, Calif.), 1992-08, Vol.13 (4), p.1370-1371

1992

Volltextzugriff (PDF)

Cloning a cDNA for Carbonyl Reductase (Cbr) from Mouse Cerebellum: Murine Genes That Express Cbr Map to Chromosomes 16 and 11

Genomics (San Diego, Calif.), 1996-05, Vol.34 (1), p.147-148

1996

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Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

Human molecular genetics, 1995, Vol.4 (3), p.459-463

1995

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250 Alzheimer disease national cell repository

Neurobiology of aging, 1996, Vol.17 (4), p.S63-S63

1996

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Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred

American journal of human genetics, 1993-06, Vol.52 (6), p.1053-1056

1993

Volltextzugriff (PDF)

α-amylase gene transcription in tissues of normal dog

Nucleic acids research, 1990-02, Vol.18 (4), p.1031-1036

1990

Volltextzugriff (PDF)

A novel, sensitive fluorometric staining technique for the detection of DNA in RNA preparations

Nucleic acids research, 1987-12, Vol.15 (24), p.10589-10589

1987

Volltextzugriff (PDF)

A new discontinuous buffer system for the electrophoresis of cationic proteins at near-neutral pH

Analytical biochemistry, 1981-11, Vol.118 (1), p.194-196

1981

Volltextzugriff (PDF)

Linkage of the indiana kindred variant of Gerstmann-Sträussler-Scheinker disease to a mutation in the prion protein gene ( [formula omitted])

Neurobiology of aging, 1992, Vol.13, p.S70-S70

1992

Volltextzugriff (PDF)

Immunohistochemical demonstration of ribonuclease and amylase in normal and neoplastic parotid glands

Human pathology, 1983-11, Vol.14 (11), p.969-973

1983

Volltextzugriff (PDF)

Characterization of phosphohydrolase activity in bovine spleen extracts: Identification of a bis( p-nitrophenyl)phosphate-hydrolyzing activity (phosphodiesterase IV) which also acts on adenosine triphosphate

Analytical biochemistry, 1985-12, Vol.151 (2), p.375-380

1985

Volltextzugriff (PDF)

Juvenile chronic granulocytic leukemia in a patient with trisomy 8, neurofibromatosis, and prolonged Epstein-Barr virus infection

The Journal of pediatrics, 1983-06, Vol.102 (6), p.888-892

1983

Volltextzugriff (PDF)

Molecular characterization of a novel cDNA from murine cerebellum, developmental expression, and distribution in brain

Brain research. Molecular brain research., 1994-09, Vol.25 (3), p.192-199

1994

Volltextzugriff (PDF)

Sialic acid residues contribute to the heterogeneity of human serum ribonuclease: demonstration by isoelectric focusing and neuraminidase treatment of serum

Clinica chimica acta, 1984-09, Vol.142 (1), p.73-81

1984

Volltextzugriff (PDF)

A positive zymogram for distinguishing among RNase and phosphodiesterases I and II

Analytical biochemistry, 1981, Vol.110 (1), p.150-152

1981

Volltextzugriff (PDF)

Tissue specificity of human phosphodiesterase. I. Blood serum

Clinica chimica acta, 1983-05, Vol.130 (1), p.31-37

1983

Volltextzugriff (PDF)

Immunohistochemical demonstration of altered functional differentiation of pancreatic tissue in sacrococcygeal teratomas

Human pathology, 1983-08, Vol.14 (8), p.724-726

1983

Volltextzugriff (PDF)

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Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales

Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

The weaver mutation changes the ion selectivity of the affected inwardly rectifying potassium channel GIRK2

Genetics of Pelizaeus-Merzbacher disease

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

Coupled reverse transcription-polymerase chain reaction (RT-PCR) as a sensitive and rapid method for isozyme genotyping

A male child with the rumpshaker mutation, X‐linked spastic paraplegia/Pelizaeus‐Merzbacher disease and lysinuria

Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15

Cloning a cDNA for Carbonyl Reductase (Cbr) from Mouse Cerebellum: Murine Genes That Express Cbr Map to Chromosomes 16 and 11

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

250 Alzheimer disease national cell repository

Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred

α-amylase gene transcription in tissues of normal dog

A novel, sensitive fluorometric staining technique for the detection of DNA in RNA preparations

A new discontinuous buffer system for the electrophoresis of cationic proteins at near-neutral pH

Linkage of the indiana kindred variant of Gerstmann-Sträussler-Scheinker disease to a mutation in the prion protein gene ( [formula omitted])

Immunohistochemical demonstration of ribonuclease and amylase in normal and neoplastic parotid glands

Characterization of phosphohydrolase activity in bovine spleen extracts: Identification of a bis( p-nitrophenyl)phosphate-hydrolyzing activity (phosphodiesterase IV) which also acts on adenosine triphosphate

Juvenile chronic granulocytic leukemia in a patient with trisomy 8, neurofibromatosis, and prolonged Epstein-Barr virus infection

Molecular characterization of a novel cDNA from murine cerebellum, developmental expression, and distribution in brain

Sialic acid residues contribute to the heterogeneity of human serum ribonuclease: demonstration by isoelectric focusing and neuraminidase treatment of serum

A positive zymogram for distinguishing among RNase and phosphodiesterases I and II

Tissue specificity of human phosphodiesterase. I. Blood serum

Immunohistochemical demonstration of altered functional differentiation of pancreatic tissue in sacrococcygeal teratomas

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