arginine and External Ophthalmoplegia

arginine has been researched along with External Ophthalmoplegia in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's3 (60.00)29.6817
2010's1 (20.00)24.3611
2020's1 (20.00)2.80

Authors

AuthorsStudies
Abdul-Rahman, OA; Almpani, K; Antony, JH; Barry, BJ; Brewer, C; Chan, WM; Collins, FS; Delaney, A; Engle, EC; Facio, FM; FitzGibbon, EJ; Hunter, DG; Jabs, EW; King, KA; Kvarnung, M; Larsen, DA; Lee, JS; Lee, PR; Lehky, TJ; Ma, A; Maarup, TJ; MacKinnon, S; Manoli, I; Moller, HU; Paul, SM; Ragnhild, G; Robson, CD; Tham, E; Thurm, A; Toro, C; Troedson, C; Van Ryzin, C; Webb, BD; Whitman, MC; Wirgenes, KV; Zalewski, C1
Finnilä, S; Hassinen, I; Hinttala, R; Kärppä, M; Komulainen, T; Majamaa, K; Pajunen, L; Rantala, H; Tuominen, H; Uusimaa, J1
Traboulsi, EI1
Gong, SX; Liu, JY; Liu, MG; Peng, JH; Tang, ZH; Wang, Q; Xu, CQ; Zhang, XQ; Zhou, X1
Al-Tassan, NA; Khalil, DS; Khan, AO1

Other Studies

5 other study(ies) available for arginine and External Ophthalmoplegia

ArticleYear
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
    Human genetics, 2021, Volume: 140, Issue:12

    Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Child, Preschool; Facial Paralysis; Female; Fibrosis; Histidine; Humans; Infant; Male; Mutation; Ophthalmoplegia; Peripheral Nervous System Diseases; Syndrome; Tubulin; Young Adult

2021
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
    BMC neurology, 2010, May-03, Volume: 10

    Topics: Aged, 80 and over; Arginine; Brain; Deglutition Disorders; Diabetes Mellitus, Type 2; Disease Progression; DNA Polymerase gamma; DNA-Directed DNA Polymerase; DNA, Mitochondrial; Histidine; Humans; Male; Mitochondrial Diseases; Mutation; Ophthalmoplegia; Phenotype

2010
Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.
    Transactions of the American Ophthalmological Society, 2004, Volume: 102

    Topics: Adenine; Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 11; Cranial Nerves; Female; Fibrosis; Genes, Recessive; Genetic Variation; Glutamine; Guanine; Humans; Kinesins; Male; Mobius Syndrome; Mutation; Nerve Tissue Proteins; Oculomotor Muscles; Ophthalmoplegia; Pedigree; Phenotype; Scoliosis; Syndrome

2004
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.
    Yi chuan xue bao = Acta genetica Sinica, 2006, Volume: 33, Issue:8

    Topics: Amino Acid Substitution; Arginine; Asian People; Female; Fibrosis; Humans; Kinesins; Male; Mutation; Oculomotor Muscles; Ophthalmoplegia; Pedigree; Tryptophan; Young Adult

2006
Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula.
    Ophthalmic genetics, 2008, Volume: 29, Issue:1

    Topics: Adult; Arabs; Arginine; Blepharoptosis; Child, Preschool; Female; Fibrosis; Heterozygote; Humans; Kinesins; Male; Muscular Diseases; Mutation; Nerve Tissue Proteins; Oculomotor Muscles; Ophthalmoplegia; Pedigree; Saudi Arabia; Tryptophan

2008