Results 141 to 150 of about 15,488 (253)

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

Integrated Role of Musculoskeletal Ultrasound in Piriformis Syndrome: A Case Series. [PDF]

Cureus
Sudhakar P, Sai V, Sugumaran M, Balasubramanian B, Sugumaran N.   +4 more
europepmc   +1 more source

Functional Sneeze: A Case Report

Movement Disorders Clinical Practice, EarlyView.
Alexandra Lodge, Barnaby J. Proctor, Jan Coebergh   +2 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

Pseudo‐Dystonic Gait in a Preschool Child: Foot Posturing Contralateral to a Cuboid Fracture

Movement Disorders Clinical Practice, EarlyView.
Allison J. Chirigos, Donald L. Gilbert, Barbara E. Hallinan, Jes Marchbank, Alberto J. Espay   +4 more
wiley   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, EarlyView.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Real-World Diagnostic Phenotypes and Treatment Pathways in Trigeminal Pain: A Retrospective Tertiary-Center Cohort-Diagnostic Phenotypes in Trigeminal Pain. [PDF]

Neurol Int
Shemesh SZ, Kelmer P, Asprilla J, Hadari Y, Cohen O, Ungar L.   +5 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

Evolving Paradigms in Cancer Pain Management: From Opioid-Centric Care to Multimodal and Personalized Strategies. [PDF]

Cancers (Basel)
Barrios I, Thomas SA, Hernandez YL, Pagan A, Munoz E, Cespedes K, Aggarwal S.   +6 more
europepmc   +1 more source