Natalia Laura Gonzalez

Journal article Mol Genet Metab · November 2025 BACKGROUND: Infantile-onset Pompe disease (IOPD) is caused by a deficiency of the enzyme acid alfa glucosidase, resulting in glycogen accumulation in muscles and other tissues. Without treatment, affected infants typically die within two years. Enzyme repl ... Full text Link to item Cite

Clinical Reasoning: A 60-Year-Old Woman With Rapidly Progressive Muscle Weakness and Ophthalmoparesis.

Journal article Neurology · August 13, 2024 The clinical assessment of patients with proximal muscle weakness represents a frequent yet intricate challenge. We present the case of a 60-year-old woman who experienced a progressive, symmetrical weakness in proximal limbs and bulbar muscles over 6 mont ... Full text Link to item Cite

Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study.

Journal article Lancet Neurol · May 2023 BACKGROUND: Generalised myasthenia gravis is a chronic, unpredictable, and debilitating rare disease, often accompanied by high treatment burden and with an unmet need for more efficacious and well tolerated treatments. Zilucoplan is a subcutaneous, self-a ... Full text Link to item Cite

A Case of Probable Multifocal Motor Neuropathy With Clinical Stability for Ten Years After a Single Treatment of Rituximab.

Journal article J Clin Neuromuscul Dis · March 1, 2022 Multifocal motor neuropathy is a rare, immune-mediated motor neuropathy with asymmetric, often debilitating progressive weakness. The efficacy of intravenous immunoglobulin in this disease is well established; however, the response typically wanes over tim ... Full text Link to item Cite

The Role of Imaging for Disorders of Peripheral Nerve.

Journal article Clin Geriatr Med · May 2021 Peripheral nerve imaging is a helpful and sometimes essential adjunct to clinical history, physical examination, and electrodiagnostic studies. Advances in imaging technology have allowed the visualization of nerve structures and their surrounding tissues. ... Full text Link to item Cite

Reduced plasmablast frequency is associated with seronegative myasthenia gravis.

Journal article Muscle Nerve · April 2021 BACKGROUND: The immunopathology of autoimmune seronegative myasthenia gravis (SN MG) is poorly understood. Our objective was to determine immune profiles associated with a diagnosis of SN MG. METHODS: We performed high-dimensional flow cytometry on blood s ... Full text Link to item Cite

Knowledge and perceptions of the COVID-19 pandemic among patients with myasthenia gravis.

Journal article Muscle Nerve · March 2021 BACKGROUND: Patients with myasthenia gravis (MG) may be particularly vulnerable during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic due to risk of worsening disease during infection, potential adverse impacts of coronavirus dis ... Full text Link to item Cite

Neuromuscular ultrasound in clinical practice: A review.

Journal article Clinical neurophysiology practice · January 2019 Neuromuscular ultrasound (NMUS) is becoming a standard element in the evaluation of peripheral nerve and muscle disease. When obtained simultaneously to electrodiagnostic studies, it provides dynamic, structural information that can refine a diagnosis or i ... Full text Cite

Myasthenia triggered by immune checkpoint inhibitors: New case and literature review.

Journal article Neuromuscul Disord · March 2017 Immune checkpoint molecules are potent regulators of immunologic homeostasis that prevent the development of autoimmunity while maintaining self-tolerance. Inhibitors of immune checkpoint molecules are used as immunotherapy in the treatment of melanoma and ... Full text Link to item Cite