Results 51 to 60 of about 35,344 (269)

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Acute isolated ophthalmoplegia with anti-GQ1b antibodies

, 2011
Ophthalmoplegia without ataxia, areflexia or both has been designated as atypical Miller Fisher syndrome (MFS) or acute ophthalmoplegia (AO). This entity, first reported by Chiba et al. is associated with anti-GQ1b IgG antibodies.We report a patient with
Giuseppe Lauria, Marco Longoni, Rigamonti, Andrea, Agostoni, Elio, Longoni, Marco, Stanzani, Lorenzo, Elio Agostoni, G. LAURIA PINTER, Andrea Rigamonti, Lorenzo Stanzani   +9 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Immunotherapy for Head and Neck Cutaneous Squamous Cell Carcinoma with Perineural Spread: A Systematic Review

Head &Neck, EarlyView.
ABSTRACT Background Immunotherapy is increasingly used for head and neck cutaneous squamous cell carcinoma (cSCC) with perineural spread (PNS), though outcomes remain poorly defined. Methods A systematic review was conducted according to PRISMA and MOOSE guidelines.
Jai Paris, James Tsimiklis, Ayushi Agarwal, Jessica Y. Tong, Dinesh Selva   +4 more
wiley   +1 more source

Bilateral Ophthalmoplegia After Neoadjuvant Pembrolizumab for Oral Cavity Squamous Cell Carcinoma

The Laryngoscope, EarlyView.
The role of immune checkpoint inhibition (ICI) therapy in the treatment of head and neck squamous cell carcinoma (HNSCC) is expanding with increased utilization of neoadjuvant and adjuvant pembrolizumab in the setting of locally advanced disease. This report describes the presentation and management of the first known case of pembrolizumab‐induced ...
Leonard E. Estephan, Peter Jacoby, David M. Cognetti, Steven A. Manobianco   +3 more
wiley   +1 more source

Unilateral external ophthalmoplegia in Miller Fisher syndrome: case report [PDF]

, 2007
Background A description of the diagnostic features of Miller Fisher syndrome. Case presentation The clinical presentation, investigation, and subsequent progress of our patient with clinical unilateral external ophthalmoplegia.
Jonathan Smith, Philip Severn, Severn Philip, Lucy Clarke, Smith Jonathan, Robert Boyce, Clarke Lucy, Boyce Robert   +7 more
core   +2 more sources

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

Painful ophthalmoplegia with normal cranial imaging

BMC Neurology, 2014
BackgroundPainful ophthalmoplegia with normal cranial imaging is rare and confined to limited etiologies. In this study, we aimed to elucidate these causes by evaluating clinical presentations and treatment responses.MethodsCases of painful ...
Chih-Hsien Hung, Kuo-Hsuan Chang, Chun-Che Chu, Ming-Feng Liao, Hong-Shiu Chang, R. Lyu, Yi-Ming Wu, Yao-Liang Chen, C. Lai, Hsiao-Jung Tseng, L. Ro   +10 more
semanticscholar   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Epiphora: A Structured Diagnostic Approach for the Otolaryngologist

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Introduction Epiphora, or excessive tearing, has historically been predominantly managed by ophthalmologists. However, as there is substantial overlap between ophthalmic and otolaryngologic anatomy and pathology that may contribute to epiphora, patients with this symptom often present to otolaryngologists as well.
Luke M. O'Neil, Sam Kushner‐Lenhoff, Alexandra Van Brummen, Christopher Chambers, Hector Perez, Ashton E. Lehmann, Matthew M. Zhang, Aria Jafari   +7 more
wiley   +1 more source