threonine has been researched along with Pigmentary Retinopathy in 11 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (9.09) | 18.7374 |
| 1990's | 7 (63.64) | 18.2507 |
| 2000's | 2 (18.18) | 29.6817 |
| 2010's | 1 (9.09) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Gaillard, MC; Munier, FL; Schorderet, DF; Tiab, L; Vaclavik, V | 1 |
| Bessant, DA; Bhattacharya, SS; Bird, AC; Fitzke, FW; Holder, GE; Payne, AM | 1 |
| Baracca, A; Carelli, V; Lenaz, G; Sgarbi, G; Solaini, G; Valentino, LM | 1 |
| Bleeker-Wagemakers, EM; de Jong, LA; de Jong, PT; Gal, A; Riemslag, FC; van den Born, LI; van Schooneveld, MJ | 1 |
| Jacobson, SG; Li, ZY; Milam, AH | 1 |
| Antich, J; Ayuso, C; Carballo, M; Garcia-Sandoval, B; Gean, E; Ramos, C; Reig, C | 1 |
| Antich, J; Carballo, M; Gean, E; Llecha, N; Molina, M; Reig, C; Reventós, J; Tejada, I | 1 |
| Bardet, J; Diry, C; Heron, B; Kamoun, P; Marsac, C; Munnich, A; Parvy, P; Ponsot, G; Rabier, D; Rotig, A; Rustin, P; Saudubray, JM | 1 |
| Boehnke, M; Kuo, CY; Richards, JE; Sieving, PA | 1 |
| Fishman, GA; Gilbert, LD; Kenna, P; Sheffield, VC; Stone, EM | 1 |
| Eriksson, O; Hultberg, B; Ockerman, PA | 1 |
11 other study(ies) available for threonine and Pigmentary Retinopathy
| Article | Year |
|---|---|
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.
Topics: Adult; Aged; Amino Acid Substitution; Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; Electroretinography; Family; Female; Fluorescence; Fundus Oculi; Genes, Dominant; Humans; Male; Methionine; Middle Aged; Molecular Sequence Data; Mutation; Nuclear Proteins; Phenotype; Retinitis Pigmentosa; Ribonucleoprotein, U4-U6 Small Nuclear; Switzerland; Threonine; Young Adult | 2010 |
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
Topics: Adolescent; Adult; Basic-Leucine Zipper Transcription Factors; Child; Dark Adaptation; DNA-Binding Proteins; Electroretinography; Eye Proteins; Female; Fluorescein Angiography; Humans; Leucine Zippers; Male; Middle Aged; Mutation; Night Blindness; Ophthalmoscopy; Pedigree; Phenotype; Photoreceptor Cells, Vertebrate; Retinitis Pigmentosa; Serine; Threonine; Transcription Factors; Visual Acuity; Visual Fields | 2003 |
Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.
Topics: Adenosine Triphosphate; Cell Membrane Permeability; Cells, Cultured; Digitonin; DNA, Mitochondrial; Female; Humans; Ion Transport; Leigh Disease; Male; Mutation; Pedigree; Protons; Retinitis Pigmentosa; Substrate Specificity; Syndrome; Threonine | 2006 |
Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family.
Topics: Adult; Codon; Electroretinography; Female; Fundus Oculi; Humans; Lysine; Middle Aged; Netherlands; Pedigree; Photoreceptor Cells; Point Mutation; Retinitis Pigmentosa; Rhodopsin; Threonine; Vision Tests; Visual Fields | 1994 |
Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry.
Topics: Aged; Fluorescent Antibody Technique; Genes, Dominant; Humans; Male; Methionine; Microscopy, Electron; Microscopy, Immunoelectron; Mutation; Photoreceptor Cells; Retina; Retinitis Pigmentosa; Rhodopsin; Threonine; Vision, Ocular | 1994 |
Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa.
Topics: Adolescent; Aged; DNA Mutational Analysis; Electrophoresis, Agar Gel; Exons; Female; Humans; Male; Methionine; Middle Aged; Pedigree; Point Mutation; Polymerase Chain Reaction; Retinitis Pigmentosa; Rhodopsin; Threonine | 1994 |
A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family.
Topics: Amino Acid Sequence; Arginine; Base Sequence; DNA; Exons; Female; Genes, Dominant; Histidine; Humans; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Retinitis Pigmentosa; Rhodopsin; Spain; Threonine | 1994 |
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Topics: Abnormalities, Multiple; Ataxia; Biomarkers; Child, Preschool; Citrulline; DNA, Mitochondrial; Female; Glycine; Humans; Infant; Male; Muscular Diseases; Mutation; Retinitis Pigmentosa; Threonine | 1998 |
Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.
Topics: Adult; Aged; Arginine; Base Sequence; Dark Adaptation; DNA; Electroretinography; Female; Genes, Dominant; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Retinitis Pigmentosa; Rhodopsin; Sensory Thresholds; Threonine; Visual Fields | 1991 |
Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.
Topics: Adult; Arginine; Base Sequence; Chromosome Aberrations; Chromosome Disorders; Codon; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; Electroretinography; Female; Fundus Oculi; Gene Expression; Genes, Dominant; Humans; Male; Middle Aged; Molecular Sequence Data; Mutagenesis; Pedigree; Phenotype; Retinitis Pigmentosa; Rhodopsin; Threonine; Visual Fields | 1991 |
Urinary amino acids in storage disorders: mucopolysaccharidosis, Gaucher's disease and metachromatic leucodystrophy.
Topics: Adolescent; Adult; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Diffuse Cerebral Sclerosis of Schilder; Female; Gaucher Disease; Glycolipids; Glycoproteins; Glycosaminoglycans; Humans; Intellectual Disability; Lysosomes; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Serine; Threonine; Tryptophan | 1969 |