Homozygosity Mapping to Chromosome 5p15 of a Gene Responsible for Hartnup Disorder

Parametric and nonparametric linkage analysis: a unified multipoint approach.

1996 • 2,905 citations

Easy calculations of lod scores and genetic risks on small computers.

1984 • 1,526 citations

DEFECTIVE BRAIN MICROTUBULE ASSEMBLY IN ALZHEIMER'S DISEASE

1986 • 704 citations

HEREDITARY PELLAGRA-LIKE SKIN RASH WITH TEMPORARY CEREBELLAR ATAXIA, CONSTANT RENAL AMINO-ACIDURIA, AND OTHER BIZARRE BIOCHEMICAL FEATURES

1956 • 402 citations

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

1995 • 226 citations

Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency

1999 • 170 citations

Hartnup Disease

1965 • 80 citations

The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.

1987 • 75 citations

MASSACHUSETTS METABOLIC DISORDERS SCREENING PROGRAM. I. TECHNICS AND RESULTS OF URINE SCREENING

1972 • 63 citations

Natural history of Hartnup disease.

1977 • 50 citations

Nutrient-gene interactions: the gene is not the disease and vice versa.

1988 • 25 citations

Clinical and Biochemical Observations in Two Cases of Hartnup Disease

1966 • 23 citations

A candidate mouse model for Hartnup Disorder deficient in neutral amino acid transport

1997 • 19 citations

[Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions].

1989 • 9 citations

Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse

1997 • 9 citations