Results 71 to 80 of about 35,344 (269)

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia

PLoS ONE, 2013
Background Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterised by bilateral progressive ptosis and ophthalmoplegia.
C. Yu-Wai-Man, F. Smith, M. Firbank, Grant Guthrie, Stuart Guthrie, G. Gorman, R. Taylor, D. Turnbull, P. Griffiths, A. Blamire, P. Chinnery, P. Yu-Wai-Man   +11 more
semanticscholar   +1 more source

Sequential and Concurrent C5 and Neonatal Fc Receptor Inhibition in Prolonged Myasthenic Crisis due to Advanced Invasive Thymoma‐Associated Myasthenia Gravis: A Case Report and Literature Review

Clinical and Experimental Neuroimmunology, Volume 17, Issue 4, November 2026.
ABSTRACT Thymoma‐associated myasthenia gravis (TAMG) is frequently refractory, particularly when complicated by myasthenic crisis in advanced invasive disease. Complement C5 inhibitors and neonatal Fc receptor (FcRn) inhibitors have expanded the treatment of acetylcholine receptor (AChR) antibody‐positive generalized myasthenia gravis; however, their ...
Yuta Kizuka, Yuriko Nakamura, Kensuke Okada, Yu Okubo, Kaoru Kaseda, Hirofumi Toyama, Keisuke Asakura, Atsuya Takeda, Jin Nakahara, Kei Ishizuchi   +9 more
wiley   +1 more source

Internuclear Ophthalmoplegia

, 2019
Dr.
Andrew G. Lee, MD; Meesha Khatke
core  

Steroid-resistant bilateral facial nerve palsies, ophthalmoparesis, and multilevel thoracic radiculopathy as immune effector cell-associated late-onset neurotoxicity after cilta-cel CAR-T therapy: a case report and review of similar cases

Frontiers in Neurology
The use of chimeric antigen receptor T-cell (CAR-T) therapy has become more widespread in recent years, most commonly for hematologic malignancies. This therapy can be potentially associated with neurotoxic side effects.
James Reid Johnson, Tanya Gupta, Michelle Tavcar, Alex Glynn, Peter Hedera   +4 more
doaj   +1 more source

RYR1 mutations cause ophthalmoplegia, facial weakness, and malignant hyperthermia

JAMA ophthalmology, 2013
Objective To determine the genetic cause of congenital ptosis, ophthalmoplegia, facial paralysis and mild hypotonia segregating in two pedigrees diagnosed with atypical Moebius syndrome or congenital fibrosis of the extraocular muscles (CFEOM).
Sherin Shaaban, L. Ramos-Platt, F. Gilles, W. Chan, C. Andrews, U. de Girolami, J. Demer, E. Engle   +7 more
semanticscholar   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Internuclear ophthalmoplegia: MR-anatomic correlation.

, 1987
Internuclear ophthalmoplegia is a gaze disorder characterized by impaired adduction on the side of a lesion involving the medial longitudinal fasciculus with dissociated nystagmus of the abducting eye.
Goldberg, H I, Grossman, R I, Bosley, T M, Atlas, S W, Savino, P J, Sergott, R C, Zimmerman, R A, Schatz, N J, Hackney, D B, Bilaniuk, L T   +9 more
core   +1 more source

Cavernous sinus syndrome with painful ophthalmoplegia: aspects of differential diagnosis to consider

Headache Medicine
Introduction: Cavernous sinus syndrome with painful ophthalmoplegia is a rare disorder that affects 1-2 individuals per million annually and requires an assertive investigation, considering the multiple alternative diagnostic options that can impact the ...
Duanne Stollmeier Pandini, Ana Caroline Benin, Leonardo Rodrigues da Silva   +2 more
doaj   +1 more source

Incidence of pupillary involvement, course of anisocoria and ophthalmoplegia in diabetic Oculomotor nerve palsy

Indian Journal of Ophthalmology, 2013
Dear Editor, After going through the article published in the January 2013 issue on “Incidence of pupillary involvement, course of anisocoria and ophthalmoplegia in diabetic Oculomotor nerve palsy” I have few queries: Cases recruited in the
S. Bhandari, Dayakar Yadalla
semanticscholar   +1 more source