threonine has been researched along with Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis in 6 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (16.67) | 18.7374 |
| 1990's | 4 (66.67) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (16.67) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Abicht, A; Bindoff, LA; Chinnery, PF; Czermin, B; de Coo, IF; De Vries, M; Dimauro, S; Gorman, GG; Hirano, M; Holinski-Feder, E; Horvath, R; Hudson, G; Jardel, C; Keiling, BC; Klopstock, T; Lochmüller, H; Lombès, A; Neeve, VC; Saft, C; Samuels, DC; Smeets, H; Smeitink, J; Smits, BW; Taylor, RW; Turnbull, DM; van den Bosch, B; Van Goethem, G | 1 |
| Boyadjiev, S; Dlouhy, SR; Green, K; Hodes, ME; Pratt, VM | 1 |
| Nanba, E; Yamamoto, T | 1 |
| Baraitser, M; Malcolm, S; Rutland, P; Strautnieks, S; Winter, RM | 1 |
| Conneally, PM; Dlouhy, SR; Hodes, ME; Pratt, VM; Schinzel, A; Trofatter, JA | 1 |
| Eriksson, O; Hultberg, B; Ockerman, PA | 1 |
6 other study(ies) available for threonine and Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis
| Article | Year |
|---|---|
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Topics: Adolescent; Adult; Age of Onset; Alanine; Child; Cohort Studies; Diffuse Cerebral Sclerosis of Schilder; DNA Mutational Analysis; DNA Polymerase gamma; DNA-Directed DNA Polymerase; Europe; Family Health; Female; Genetic Predisposition to Disease; Homozygote; Humans; Male; Middle Aged; Mitochondrial Diseases; Muscle, Skeletal; Mutation; Ophthalmoplegia, Chronic Progressive External; Statistics as Topic; Statistics, Nonparametric; Threonine; Young Adult | 2012 |
Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.
Topics: Adult; Base Sequence; Deoxyribonucleases, Type II Site-Specific; Diffuse Cerebral Sclerosis of Schilder; DNA Primers; Exons; Family; Female; Genetic Markers; Humans; Infant, Newborn; Isoleucine; Male; Molecular Sequence Data; Myelin Proteolipid Protein; Point Mutation; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Threonine; X Chromosome | 1995 |
A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
Topics: Alanine; Diffuse Cerebral Sclerosis of Schilder; Humans; Male; Myelin Proteolipid Protein; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Threonine | 1999 |
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
Topics: Amino Acid Sequence; Base Sequence; Chorionic Villi Sampling; Diffuse Cerebral Sclerosis of Schilder; DNA; Exons; Female; Genetic Counseling; Humans; Infant, Newborn; Leucine; Male; Molecular Sequence Data; Myelin Proteins; Myelin Proteolipid Protein; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Pregnancy; Prenatal Diagnosis; Proline; Restriction Mapping; Threonine; X Chromosome | 1992 |
A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
Topics: Diffuse Cerebral Sclerosis of Schilder; Exons; Female; Heterozygote; Humans; Isoleucine; Magnetic Resonance Imaging; Male; Mutation; Myelin Proteins; Myelin Proteolipid Protein; Pedigree; Threonine; X Chromosome | 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 |