Early copper therapy in classic Menkes disease patients with a novel splicing mutation

A catalogue of splice junction sequences

1982 • 3,861 citations

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1989 • 2,480 citations

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

1993 • 1,395 citations

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

1992 • 1,338 citations

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1993 • 720 citations

Isolation of a partial candidate gene for Menkes disease by positional cloning

1993 • 690 citations

[16] Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project

1990 • 689 citations

MENKES' KINKY-HAIR SYNDROME

1972 • 418 citations

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

1994 • 355 citations

Primary defect in copper transport underlies mottled mutants in the mouse

1974 • 318 citations

Bacteriotherapy for chronic relapsing Clostridium difficile in six patients

1989 • 291 citations

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1994 • 259 citations

Menkes' Kinky Hair Disease: Further Definition of the Defect in Copper Transport

1973 • 217 citations

Sequence, mapping and disruption of CCC2, a gene that cross‐complements the Ca²⁺‐sensitive phenotype of csg1 mutants and encodes a P‐type ATPase belonging to the Cu²⁺‐ATPase subfamily

1995 • 166 citations

Kinky Hair Disease

1966 • 146 citations

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

1995 • 132 citations

Copper-histidine therapy for Menkes disease

1993 • 129 citations

COPPER INCORPORATION STUDIES ON CULTURED CELLS FOR PRENATAL DIAGNOSIS OF MENKES' DISEASE

1976 • 128 citations

The mottled gene is the mouse homologue of the Menkes disease gene

1994 • 125 citations

Diverse mutations in patients with Menkes disease often lead to exon skipping.

1994 • 123 citations

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

1994 • 119 citations

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease

1993 • 101 citations

Dopamine‐β‐hydroxylase deficiency in humans

1990 • 77 citations

Copper infusion therapy in trichopoliodystrophy

1975 • 74 citations

Copper Histidinate Therapy in Menkes’ Disease: Prevention of Progressive Neurodegeneration

1989 • 64 citations

Genetic and Biochemical Analysis of Alternative RNA Splicing

1994 • 63 citations

Menkes Kinky-Hair Syndrome (Trichopoliodystrophy)

1973 • 60 citations

Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.

1993 • 57 citations

Menkes' disease: long-term treatment with copper and D-penicillamine

1988 • 52 citations

Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Changes in copper-dependent enzyme activity in 13-day-old mice

1986 • 46 citations

The failure of parenteral copper therapy in Menkes Kinky Hair Syndrome

1984 • 33 citations

Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice

1982 • 31 citations

Biochemical Study on the Critical Period for Treatment of the Mottled Brindled Mouse

1990 • 29 citations

Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper.

1978 • 28 citations

Difficulties in the Neonatal Diagnosis of Menkes' Kinky Hair Syndrome—Trichopoliodystrophy

1984 • 25 citations

A defect in catecholamine metabolism in kinky‐hair disease

1982 • 23 citations

Effect of Altered Copper Metabolism Induced by Mottled Alleles and Diet on Mouse Tyrosinase

1979 • 20 citations

Catecholamine metabolism in kinky hair disease

1988 • 15 citations

Elevation of Plasma Lathosterol, as an Indicator of Increased Cholesterol Synthesis, in Preterm (23–32 Weeks Gestation) Infants Given Intralipid

1992 • 14 citations

Formulation of copper-histidine for the treatment of Menkes disease, a genetic disorder of copper transport

1993 • 8 citations