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Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

American journal of human genetics, 2002-10, Vol.71 (4), p.838-853

2002

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Properties and Tissue Distribution of Mouse Monomeric Carbonyl Reductase

Biological and Pharmaceutical Bulletin, 1998/08/15, Vol.21(8), pp.879-881

1998

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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

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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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Novel cDNA clones obtained by antibody screening of a mouse cerebellar cDNA expression library

Brain research. Molecular brain research., 1994-09, Vol.25 (3), p.183-191

1994

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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

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Pelizaeus-Merzbacher Disease: Tight Linkage to Proteolipid Protein Gene Exon Variant

Proceedings of the National Academy of Sciences - PNAS, 1989-12, Vol.86 (23), p.9427-9430

1989

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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

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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

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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

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The formation apurinic acid from the desoxyribonucleic acid of calf thymus

The Journal of biological chemistry, 1952-03, Vol.195 (1), p.49-63

1952

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α-amylase gene transcription in tissues of normal dog

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

1990

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The action of synthetic surfactants on membranes of tumor cells

Experimental cell research, 1961-08, Vol.24 (2), p.298-310

1961

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AhaII polymorphism in human X-linked proteolipid protein gene (PLP)

Nucleic acids research, 1991-11, Vol.19 (21), p.6057-6057

1991

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The apurinic acids from deoxyribonucleic acid fractions

Biochimica et biophysica acta, 1956-11, Vol.22 (2), p.348-360

1956

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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

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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

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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

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Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

Properties and Tissue Distribution of Mouse Monomeric Carbonyl Reductase

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

Novel cDNA clones obtained by antibody screening of a mouse cerebellar cDNA expression library

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

Pelizaeus-Merzbacher Disease: Tight Linkage to Proteolipid Protein Gene Exon Variant

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

The formation apurinic acid from the desoxyribonucleic acid of calf thymus

α-amylase gene transcription in tissues of normal dog

The action of synthetic surfactants on membranes of tumor cells

AhaII polymorphism in human X-linked proteolipid protein gene (PLP)

The apurinic acids from deoxyribonucleic acid fractions

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])

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