Results 141 to 150 of about 45,022 (264)

Traumatic optic neuropathy [PDF]

Eye, 2004
openaire   +2 more sources

Exocrine Gland Dysfunction in Parkinson's Disease: Pathophysiology, Clinical Manifestations, and Therapeutic Perspectives—A Narrative Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Non‐motor symptoms, especially autonomic dysfunction, are major contributors to disability and decreased quality of life in Parkinson's disease (PD). Despite being common and having a wide range of clinical facets, exocrine gland dysfunction is still not well recognized and managed.
Renato P. Munhoz, Marina Farah, Laura Silveira‐Moriyama   +2 more
wiley   +1 more source

Expanding the clinical phenotype of HIST1H1E syndrome: cerebellar atrophy and bilateral optic neuropathy, a case report. [PDF]

Front Neurol
Lai ZSY, O'Neil N, Siebert E, Colley S, Panegyres PK.   +4 more
europepmc   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Optimized ND4 allotopic expression for gene therapy of Leber's hereditary optic neuropathy. [PDF]

Front Bioeng Biotechnol
Lapshin EV, Egorov AD, Malogolovkin AS, Gasanov NB, Smirnikhina SA, Tabakov VY, Karabelsky AV.   +6 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Bilateral optic neuropathy following prolonged linezolid use: A case report. [PDF]

IDCases
Ibrahim HO, Alnuaimi AE, Alzaabi A, Elbashari M, Abouelnaga M, Almaazmi A.   +5 more
europepmc   +1 more source

Leber Hereditary Optic Neuropathy in the Elderly: A Case Report. [PDF]

Case Rep Ophthalmol
Li H, Micieli J.
europepmc   +1 more source

Orthostatic Myoclonus—Clinical and Electrophysiological Features in a Large Retrospective Cohort

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Orthostatic myoclonus is characterized by irregular, lower limb myoclonic bursts during stance and is a major cause of postural instability and falls. However, studies are limited, and little is known about its pathophysiology. Objectives We sought to define the clinical and electrophysiological features of orthostatic myoclonus in ...
Sai A. Nagaratnam, Niroshan Jeyakumar, Gobishan Jeyakumar, Florence Chang, Duncan Wilson, Paloma Becker, Hugo Morales‐Briceno, Neil Mahant, Victor S.C. Fung   +8 more
wiley   +1 more source

Stereophotographic Assessment of Intraocular Pressure Reduction in Myopic Eyes with Glaucoma-Compatible Optic Neuropathy. [PDF]

Ophthalmol Ther
Zhang Y, Bian A, Zhou Q, Li L, Jin Y, Sun Z, Chen Y, Cheng G.   +7 more
europepmc   +1 more source