Results 51 to 60 of about 311,762 (300)

Axenfeld-Rieger syndrome

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2018
Axenfeld-Rieger syndrome is a rare congenital disease that has an autosomal-dominant inheritance pattern. The ophthalmic disorder with the dysgenesis of the anterior segment is what defines the disease. This study presents the case of a 9-month-old still-
Kenia Verdecia-Jacobo, Enaydys Gómez-de-Armas, Katiria Sales-Armas   +2 more
doaj  

Pathological findings of an eye anomaly in Randall's threadfin bream Nemipterus randalli Russell, 1986 from the Mediterranean Sea (Antalya Gulf-Türkiye)

Cluj Veterinary Journal
Genetic, environmental and nutritional conditions seriously affect the health of natural fish stocks. In addition, increasing human pressure on aquatic systems in recent years is threatening fish populations.
Şükrü GÜNGÖR, Özlem ÖZMEN, Deniz İNNAL   +2 more
doaj   +1 more source

Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. [PDF]

, 2019
Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens.
Adissu, Hibret, Berberovic, Zorana, Clary, Dave, Eskandarian, Mohammad, Flenniken, Ann M, International Mouse Phenotyping Consortium, Lloyd, KC Kent, McKerlie, Colin, Moore, Bret A, Moshiri, Ala, Moshiri, Ata S, Murphy, Christopher J, Newbigging, Susan, Nutter, Lauryl MJ, Owen, Celeste, Thomasy, Sara M   +15 more
core  

Eye Movement Abnormalities in Joubert Syndrome [PDF]

Investigative Opthalmology & Visual Science, 2009
Joubert syndrome is a genetic disorder characterized by hypoplasia of the midline cerebellum and deficiency of crossed connections between neural structures in the brain stem that control eye movements. The goal of the study was to quantify the eye movement abnormalities that occur in Joubert syndrome.Eye movements were recorded in response to ...
Avery H, Weiss, Dan, Doherty, Melissa, Parisi, Dennis, Shaw, Ian, Glass, James O, Phillips   +5 more
openaire   +2 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito, Chiara Meneghini, Alice Galli, Luca Gallo, Pierfrancesco Mitrotti, Paola Dimartino, Marianna Inglese, Cinzia Zatti, Alessandro Lupini, Andrea Pilotto, Alessandro Padovani, Micol Avenali, Enza Maria Valente, Cristina Tassorelli, Silvia P. Caminiti   +14 more
wiley   +1 more source

Vascular changes in diabetic retinopathy-a longitudinal study in the Nile rat. [PDF]

, 2019
Diabetic retinopathy is the most common microvascular complication of diabetes and is a major cause of blindness, but an understanding of the pathogenesis of the disease has been hampered by a lack of accurate animal models. Here, we explore the dynamics
Blodi, Barbara A, Bozadjian, Rachel V, Clegg, Dennis O, Coffey, Peter J, Keeley, Patrick W, Lockwood, Madison D, Reese, Benjamin E, Sadjadi, Ryan, Smolentsev, Alexander, Thomson, James A, Toh, Huishi   +10 more
core  

Motor deficits in schizophrenia quantified by nonlinear analysis of postural sway. [PDF]

, 2012
Motor dysfunction is a consistently reported but understudied aspect of schizophrenia. Postural sway area was examined in individuals with schizophrenia under four conditions with different amounts of visual and proprioceptive feedback: eyes open or ...
Bolbecker, Amanda R., Forsyth, Jennifer K., Hetrick, William P., Hong, S. Lee, Kent, Jerillyn S., Klaunig, Mallory J., O'Donnell, Brian F.   +6 more
core   +3 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome

Case Reports in Ophthalmology, 2015
Purpose: Walker-Warburg syndrome (WWS) is a type of congenital muscular dystrophy (CMD) characterised by severe brain malformation, lissencephaly, and congenital eye abnormalities.
Natsuko Mano, Tatsuma Mitsutsuji, Yamato Yoshikawa, Makiko Miyamoto, Hiroko Watanabe, Kazuhiro Shimizu, Michiko Miki, Masashi Mimura, Mari Ueki, Tsunehiko Ikeda   +9 more
doaj   +1 more source