Compounds > phenylalanine

phenylalanine and Dystonia

phenylalanine has been researched along with Dystonia in 14 studies

Research

Studies (14)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	4 (28.57)	18.2507
2000's	7 (50.00)	29.6817
2010's	2 (14.29)	24.3611
2020's	1 (7.14)	2.80

Authors

Authors	Studies
Anjanappa, R; Arunachal, G; Bhat, M; Chandra, SR; Christopher, R; Dhar, D; Gowda, VK; Kamate, M; Mahale, R; Mathuranath, PS; Nagappa, M; Padmanabha, H; Pooja, M; Ray, S; Sreedharan, S	1
Anikster, Y; Ben-Zeev, B; Benoist, JF; Berutti, R; Blau, N; Bruggmann, R; Cremer, K; Dorboz, I; Engels, H; Gahl, WA; Gemperle-Britschgi, C; Guarani, V; Haack, TB; Harper, JW; Heimer, G; Hoffmann, GF; Huttlin, EL; Imbard, A; Keller, I; Landau, Y; Malicdan, MCV; Marek-Yagel, D; Martinez, A; Mayatepek, E; Meili, D; Meissner, T; Meitinger, T; Mullikin, JC; Opladen, T; Paulo, JA; Pode-Shakked, B; Prokisch, H; Schiff, M; Schwartz, G; Shen, N; Strom, TM; Thöny, B; Trefz, FK; Vilboux, T; Ziv-Strasser, L	1
Fujioka, H; Kudo, S; Shintaku, H; Yamano, T	1
Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T	1
Bandmann, O; Deuschl, G; Goertz, M; Hefter, H; Hoffmann, G; Jost, W; Müller, U; Oertel, W; Zöfel, P; Zschocke, J	1
Blau, N; Casaer, P; Goriounov, D; Hedrich, K; Klein, C; Legius, E; Matthijs, G; Møller, LB; Romstad, A; Steyaert, J; Theys, P; Van Hove, JL; Wevers, R	1
Rodacker, V; Toustrup-Jensen, M; Vilsen, B	1
Anstey, NM; Boutlis, CS; Granger, DL; Hobbs, MR; Levesque, MC; Lopansri, BK; Maniboey, H; Mwaikambo, ED; Stoddard, GJ; Tjitra, E; Weinberg, JB	1
Blau, N; Connolly, M; Horvath, GA; Hyland, K; Lillquist, YP; Rupar, T; Salvarinova-Zivkovic, R; Stockler-Ipsiroglu, SG; Waters, PJ	1
Amaral, VG; Carducci, C; Giovanniello, T; Lorenzoni, PJ; Scola, RH; Teive, HA; Werneck, LC	1
Breakefield, XO; Ozelius, LJ	1
Arnold, LA; Bebin, EM; Fryburg, JS; Gunasekera, RS; Hyland, K; Jacobson, RD; Rost-Ruffner, E; Trugman, JM; Wilson, WG	1
Hirano, M; Ueno, S	1
Arnold, LA; Hyland, K; Nygaard, TG; Sparagana, SP; Swoboda, KJ; Trugman, JM	1

Trials

1 trial(s) available for phenylalanine and Dystonia

Article	Year
The phenylalanine loading test in the differential diagnosis of dystonia. Neurology, 2003, Feb-25, Volume: 60, Issue:4 Topics: Administration, Oral; Adult; Diagnosis, Differential; Dystonia; Female; Humans; Levodopa; Male; Middle Aged; Phenylalanine; Predictive Value of Tests; Reference Values; Sensitivity and Specificity; Time Factors; Tyrosine	2003

Other Studies

13 other study(ies) available for phenylalanine and Dystonia

Article	Year
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India. Metabolic brain disease, 2022, Volume: 37, Issue:3 Topics: Biopterins; Child; Child, Preschool; Dystonia; Female; Humans; Infant; Male; Phenylalanine; Phenylketonurias	2022
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American journal of human genetics, 2017, 02-02, Volume: 100, Issue:2 Topics: Alleles; Amino Acid Sequence; Biopterins; Case-Control Studies; Dopamine; Dystonia; Exons; Female; Fibroblasts; Gene Deletion; Genome-Wide Association Study; HSP70 Heat-Shock Proteins; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Repressor Proteins; Serotonin; Tryptophan; Tryptophan Hydroxylase; Tyrosine; Tyrosine 3-Monooxygenase	2017
Plasma phenylalanine level in dopa-responsive dystonia. Movement disorders : official journal of the Movement Disorder Society, 2009, Nov-15, Volume: 24, Issue:15 Topics: Analysis of Variance; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; GTP Cyclohydrolase; Humans; Phenylalanine; Tyrosine	2009
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Molecular genetics and metabolism, 2013, Volume: 108, Issue:3 Topics: Administration, Oral; Adult; Biopterins; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Psychomotor Disorders; Tyrosine	2013
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. Journal of neurology, neurosurgery, and psychiatry, 2006, Volume: 77, Issue:1 Topics: Adolescent; Adult; Circadian Rhythm; Dystonia; Female; Fibroblasts; Gene Expression; GTP Cyclohydrolase; Humans; Lower Extremity; Male; Middle Aged; Paraparesis, Spastic; Parkinsonian Disorders; Pedigree; Phenotype; Phenylalanine; Polymerase Chain Reaction; Reflex, Abnormal; Syndrome; Tendinopathy; Tremor	2006
Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. The Journal of biological chemistry, 2006, Jul-07, Volume: 281, Issue:27 Topics: Animals; Chlorocebus aethiops; COS Cells; Dystonia; Genetic Predisposition to Disease; Humans; Models, Molecular; Mutation; Parkinsonian Disorders; Phenylalanine; Protein Conformation; Rats; Sodium; Sodium-Potassium-Exchanging ATPase; Threonine	2006
Elevated plasma phenylalanine in severe malaria and implications for pathophysiology of neurological complications. Infection and immunity, 2006, Volume: 74, Issue:6 Topics: Child; Child, Preschool; Dystonia; Female; Humans; Infant; Malaria; Malaria, Cerebral; Male; Phenylalanine; Phenylalanine Hydroxylase; Tyrosine	2006
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. Molecular genetics and metabolism, 2008, Volume: 94, Issue:1 Topics: Child, Preschool; Consanguinity; Deficiency Diseases; DNA Mutational Analysis; Dystonia; Genes, Dominant; Genes, Recessive; GTP Cyclohydrolase; Humans; Male; Mutation; Phenotype; Phenylalanine	2008
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia. Arquivos de neuro-psiquiatria, 2007, Volume: 65, Issue:4B Topics: Child; Dopamine Agents; Dystonia; Female; GTP Cyclohydrolase; Heterozygote; Humans; Levodopa; Mutation, Missense; Phenylalanine; Tyrosine	2007
Co-factor insufficiency in dystonia-parkinsonian syndrome. Nature genetics, 1994, Volume: 8, Issue:3 Topics: Age of Onset; Biopterins; Chromosome Mapping; Chromosomes, Human, Pair 14; Chromosomes, Human, Pair 9; Dopamine; Dystonia; Genes, Dominant; Genes, Recessive; GTP Cyclohydrolase; Humans; Japan; Jews; Parkinson Disease; Phenylalanine; Syndrome; Tyrosine 3-Monooxygenase; X Chromosome	1994
Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology, 1997, Volume: 48, Issue:5 Topics: Administration, Oral; Adolescent; Adult; Aged; Aged, 80 and over; Aging; Biopterins; Child, Preschool; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Female; Humans; Male; Middle Aged; Neopterin; Osmolar Concentration; Phenylalanine; Time Factors; Tyrosine	1997
Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia. Neurology, 1999, Jan-01, Volume: 52, Issue:1 Topics: Animals; COS Cells; Dystonia; Enzyme Activation; Gene Expression Regulation, Enzymologic; Genes, Dominant; Genes, Recessive; GTP Cyclohydrolase; Humans; Mutation, Missense; Phenotype; Phenylalanine; RNA, Messenger; Transfection	1999
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:3 Topics: Administration, Oral; Dopamine; Dystonia; Genetic Diseases, Inborn; GTP Cyclohydrolase; Heterozygote; Humans; Phenylalanine; Tyrosine	1999