Results 21 to 30 of about 7,066 (221)

Eye Movement Abnormalities in Multiple Sclerosis: Pathogenesis, Modeling, and Treatment

Frontiers in Neurology, 2018
Multiple sclerosis (MS) commonly causes eye movement abnormalities that may have a significant impact on patients’ disability. Inflammatory demyelinating lesions, especially occurring in the posterior fossa, result in a wide range of disorders, spanning ...
Alessandro Serra, Clara G. Chisari, Manuela Matta   +2 more
doaj   +1 more source

Diplopia and eye movement disorders.

, 2004
Published ...
Danchaivijitr, C, Kennard, C
core   +2 more sources

A CASE OF RELAPSING ACUTE POLIOMYELITIS SHOWING NYSTAGMUS; WITH PATHOLOGICAL EXAMINATION [PDF]

Brain, 1907
n ...
openaire   +3 more sources

Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis [PDF]

, 2010
We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease.
Blaschek, Astrid, Borggraefe, I., Heinen, F., Hohlfeld, R., Huss, K., Kümpfel, T., Lohse, P., Mueller-Felber, W.   +7 more
core   +1 more source

Upright BPPV Protocol: Feasibility of a New Diagnostic Paradigm for Lateral Semicircular Canal Benign Paroxysmal Positional Vertigo Compared to Standard Diagnostic Maneuvers

Frontiers in Neurology, 2020
Background: The diagnosis of benign paroxysmal positional vertigo (BPPV) involving the lateral semicircular canal (LSC) is traditionally entrusted to the supine head roll test, also known as supine head yaw test (SHYT), which usually allows ...
Salvatore Martellucci, Pasquale Malara, Andrea Castellucci, Rudi Pecci, Beatrice Giannoni, Vincenzo Marcelli, Alfonso Scarpa, Ettore Cassandro, Silvia Quaglieri, Marco Lucio Manfrin, Elisabetta Rebecchi, Enrico Armato, Francesco Comacchio, Marta Mion, Giuseppe Attanasio, Massimo Ralli, Massimo Ralli, Antonio Greco, Antonio Greco, Marco de Vincentiis, Marco de Vincentiis, Cecilia Botti, Cecilia Botti, Luisa Savoldi, Luigi Califano, Angelo Ghidini, Giulio Pagliuca, Veronica Clemenzi, Veronica Clemenzi, Andrea Stolfa, Andrea Stolfa, Andrea Gallo, Andrea Gallo, Giacinto Asprella Libonati   +33 more
doaj   +1 more source

Clinical pathology and diagnostics of nystagmus

Russian Pediatric Ophthalmology, 2021
Optical nystagmus is an involuntary oscillatory movement. Nystagmus can occur as an isolated nosology and lead to decreased visual functions in combination with other pathologies. A decreased visual function, including visual acuity, is observed in many patients with optic nystagmus. Patients with optical nystagmus were noted by ophthalmologists with a
openaire   +1 more source

Molecular and clinical characterization of albinism in a large cohort of Italian patients. [PDF]

, 2011
PURPOSE: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.
Ciccodicola, A, de Berardinis, T, Di Iorio, V, FAZZI, Elisa Maria, Fecarotta, S, Fossarello, M, Galantuomo, Ms, Gargiulo, A, Iovine, A, Macaluso, C, Magli, A, Montefusco, S, Neri, A, Rossi, S, Signorini, S, Simonelli, F, Surace, Em, Testa, F   +17 more
core   +2 more sources

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Episodic vestibular symptoms in children with a congenital cytomegalovirus infection [PDF]

, 2019
Objective: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss in children. Although cCMV-induced vestibular loss is demonstrated in several studies, the occurrence of vertigo has been described ...
Dhondt, Cleo, Dhooge, Ingeborg, Maes, Leen, Oostra, Anna   +3 more
core   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source