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Human molecular genetics, ISSN 0964-6906, 06/2019
Oculomotor synkinesis is the involuntary movement of the eyes or eyelids with a voluntary attempt at a different movement. The chemokine receptor CXCR4 and its... 
Journal Article
Cerebral cortex (New York, N.Y. : 1991), ISSN 1047-3211, 10/2018, Volume 29, Issue 8, pp. 3561 - 3576
Seven unrelated individuals (four pediatric, three adults) with the TUBB3 E410K syndrome, harboring identical de novo heterozygous TUBB3 c.1228 G>A mutations,... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2017, Volume 127, Issue 5, p. 1664
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from [alpha]2-chimaerin (CHN1) missense... 
Duane retraction syndrome | Cellular signal transduction | Research | Gene mutations | Neurons
Journal Article
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, ISSN 1940-087X, 07/2019, Issue 149
Accurate eye movements are crucial for vision, but the development of the ocular motor system, especially the molecular pathways controlling axon guidance, has... 
ASSAY | oculomotor | MULTIDISCIPLINARY SCIENCES | NEUROPILIN-2 | time-lapse imaging | eye movements | FACTOR-I | RESPONSES | Neuroscience | Issue 149 | congenital cranial dysinnervation disorder | axon guidance | GRADIENTS | slice culture | Index Medicus
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 12/2013, Volume 131, Issue 12, p. 1532
  Total ophthalmoplegia can result from ryanodine receptor 1 (RYR1) mutations without overt associated skeletal myopathy. Patients carrying RYR1 mutations are... 
Risk assessment | Amino acids | Eye diseases | Ophthalmology | Mutation | Fever | Children & youth
Journal Article
by Di Gioia, Silvio Alessandro and Connors, Samantha and Matsunami, Norisada and Cannavino, Jessica and Rose, Matthew F and Gilette, Nicole M and Artoni, Pietro and De Macena Sobreira, Nara Lygia and Chan, Wai-Man and Webb, Bryn D and Robson, Caroline D and Cheng, Long and Van Ryzin, Carol and Ramirez-Martinez, Andres and Mohassel, Payam and Leppert, Mark and Scholand, Mary Beth and Grunseich, Christopher and Ferreira, Carlos R and Hartman, Tyler and Hayes, Ian M and Morgan, Tim and Markie, David M and Fagiolini, Michela and Swift, Amy and Chines, Peter S and Speck-Martins, Carlos E and Collins, Francis S and Jabs, Ethylin Wang and Bönnemann, Carsten G and Olson, Eric N and Carey, John C and Robertson, Stephen P and Manoli, Irini and Engle, Elizabeth C and Andrews, Caroline V and Barry, Brenda J and Hunter, David G and Mackinnon, Sarah E and Shaaban, Sherin and Erazo, Monica and Frempong, Tamiesha and Hao, Ke and Naidich, Thomas P and Rucker, Janet C and Zhang, Zhongyang and Biesecker, Barbara B and Bonnycastle, Lori L and Brewer, Carmen C and Brooks, Brian P and Butman, John A and Chien, Wade W and Farrell, Kathleen and FitzGibbon, Edmond J and Gropman, Andrea L and Hutchinson, Elizabeth B and Jain, Minal S and King, Kelly A and Lehky, Tanya J and Lee, Janice and Liberton, Denise K and Narisu, Narisu and Paul, Scott M and Sadeghi, Neda and Snow, Joseph and Solomon, Beth and Summers, Angela and Toro, Camilo and Thurm, Audrey and Zalewski, Christopher K and Moebius Syndrome Res Consortium and Moebius Syndrome Research Consortium
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, pp. 16077 - 16077
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2013, Volume 17, Issue 1, pp. e22 - e23
Journal Article
Neuron, ISSN 0896-6273, 04/2014, Volume 82, Issue 2, pp. 334 - 349
The ocular motility disorder “Congenital fibrosis of the extraocular muscles type 1” (CFEOM1) results from heterozygous mutations altering the motor and third... 
PROTEIN 1B | CONGENITAL FIBROSIS | KINESIN KIF21A | PERIPHERAL NERVOUS-SYSTEM | MAP1B | EXTRAOCULAR-MUSCLES TYPE-1 | NEURONS | GUIDANCE | DYSINNERVATION | MICROTUBULE DYNAMICS | NEUROSCIENCES | Age Factors | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Cell Count | Humans | Oculomotor Nerve - pathology | Green Fluorescent Proteins - genetics | Neural Pathways - pathology | Ocular Motility Disorders - genetics | Oculomotor Nerve - ultrastructure | Axons - ultrastructure | HEK293 Cells | Kinesin - genetics | Disease Models, Animal | Animals, Newborn | Green Fluorescent Proteins - metabolism | Fibrosis - genetics | Ocular Motility Disorders - pathology | Eye Diseases, Hereditary - pathology | Eye Movements - physiology | Eye Diseases, Hereditary - physiopathology | Fibrosis - physiopathology | Gene Expression Regulation - genetics | Mice, Transgenic | Mutation - genetics | Eye Diseases, Hereditary - genetics | Kinesin - metabolism | Microtubule-Associated Proteins - physiology | Eye Movements - genetics | Animals | Axons - pathology | Neural Pathways - metabolism | Mice | Ocular Motility Disorders - physiopathology | Fibrosis - pathology | Neural Pathways - ultrastructure | Neurosciences | Genetic aspects | Genetic disorders | Analysis | Proteins | Pathology | Motility | Pathogenesis | Neurons | Rodents | Mutation | Experiments | Index Medicus
Journal Article
Journal Article
Cell, ISSN 0092-8674, 2010, Volume 140, Issue 1, pp. 74 - 87
Journal Article