Results 171 to 180 of about 45,153 (265)

Early Cervical and Orofacial Variable Dystonia in Levodopa‐Naïve PRKN Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Amy Gallagher, Aine Redmond, John McKinley, John Inocentes, Diana A Olszewska, Conor Fearon, Tim Lynch   +6 more
wiley   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

A combined model of BCVA, TRAb, and NLR predicts response to intravenous methylprednisolone in dysthyroid optic neuropathy. [PDF]

Front Med (Lausanne)
Liu S, He L, Wei R.
europepmc   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

Optic Neuritis in Temporal Association With Cosmetic Hyaluronic Acid Injection: A Case Requiring Differentiation From Ischemic Optic Neuropathy. [PDF]

Cureus
Ogasawara R, Takai Y, Yamagami A, Inoue K.   +3 more
europepmc   +1 more source

Myasthenia Gravis and Thymoma

Muscle &Nerve, EarlyView.
ABSTRACT Thymoma is the most common tumor of the anterior mediastinum. Approximately 20%–30% of patients with a thymoma develop myasthenia gravis (MG), and an additional one third may possess positive acetylcholine receptor (AChR) antibodies without MG.
Benjamin Claytor, Lukas Delasos, Daniel P. Raymond, Erik Seroogy, Jason Lempel, Yuebing Li   +5 more
wiley   +1 more source

Orbital MRI for diagnosing giant cell arteritis in cases of anterior ischaemic optic neuropathy. [PDF]

RMD Open
Brenac G, Bernard A, Lemogne B, Greigert H, Ramon A, Audia S, Leguy-Seguin V, Razanamahery J, Comby PO, Arnould L, Gabrielle PH, Creuzot-Garcher C, Bonnotte B, Samson M.   +13 more
europepmc   +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

Beyond Joint Hypermobility: Investigating Bladder Dysfunction in Hypermobile Ehlers‐Danlos Syndrome

Neurourology and Urodynamics, EarlyView.
ABSTRACT Introduction and Objectives Hypermobile Ehlers‐Danlos Syndrome (hEDS) is the most common subtype of Ehlers‐Danlos Syndrome, a group of connective tissue disorders caused by collagen abnormalities. While musculoskeletal features of hEDS are well characterized, its impact on visceral organs, including the bladder, remains underexplored.
Marium Ansari, Mallory Pine, Viktoriya Sapkalova, Emily Chan Brodowsky, Charles R. Powell, Ramzy T. Burns   +5 more
wiley   +1 more source