| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Giulia Ricci, Francesca Torri, Alessandra Govoni, Roberto Chiappini, Laura Manca, Gabriele Vadi, Stefano Roccella, Francesca Magri, Megi Meneri, Federica Fassini, Veria Vacchiano, Silvia Tomassini, Noemi Gironella, Michela Coccia, Giacomo Comi, Rocco Liguori, Gabriele Sicilian. Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 42. issue 2-3. 2023-12-13. PMID:38090548. |
spinal muscular atrophy (sma) is a genetic neuromuscular disease affecting the lower motor neuron, carrying a significant burden on patients' general motor skills and quality of life, characterized by a great variability in phenotypic expression. |
2023-12-13 |
2023-12-17 |
Not clear |
| Stephen D Cahalan, Justin D Perkins, Ines Boehm, Ross A Jones, Thomas H Gillingwater, Richard J Pierc. A method to identify, dissect and stain equine neuromuscular junctions for morphological analysis. Journal of anatomy. 2022-09-10. PMID:36087283. |
morphological study of the neuromuscular junction (nmj), a specialised peripheral synapse formed between a lower motor neuron and skeletal muscle fibre, has significantly contributed to the understanding of synaptic biology and neuromuscular disease pathogenesis. |
2022-09-10 |
2023-08-14 |
Not clear |
| Gloria Cristofano, Martina Fucci, Maria Carmela Oliva, Marta De Rinaldis, Antonio Trabacc. Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 41. issue 2. 2022-07-14. PMID:35832505. |
spinal muscular atrophy is a progressive and severe hereditary (autosomal recessive) neuromuscular disease characterized by lower motor neuron degeneration in the spinal cord and brainstem causing a clinical picture of progressive muscle atrophy and weakness of skeletal and respiratory muscles. |
2022-07-14 |
2023-08-14 |
Not clear |
| Mitra Forouhan, Wooi Fang Lim, Laura C Zanetti-Domingues, Christopher J Tynan, Thomas C Roberts, Bilal Malik, Raquel Manzano, Alfina A Speciale, Ruth Ellerington, Antonio Garcia-Guerra, Pietro Fratta, Gianni Sorarú, Linda Greensmith, Maria Pennuto, Matthew J A Wood, Carlo Rinald. AR cooperates with SMAD4 to maintain skeletal muscle homeostasis. Acta neuropathologica. 2022-05-06. PMID:35522298. |
this adult-onset neuromuscular disease is caused by a polyglutamine expansion (polyq) in ar and is characterized by progressive muscle weakness and atrophy secondary to a combination of lower motor neuron degeneration and primary muscle atrophy. |
2022-05-06 |
2023-08-13 |
mouse |
| Laura M Mattson, Walter O Alomar-Jimenez, Sandra L Hear. An Atypical Presentation of Hirayama Disease With Lower Limb Myelopathic Symptoms Only. American journal of physical medicine & rehabilitation. vol 100. issue 12. 2021-11-25. PMID:34267058. |
hirayama disease is a rare neuromuscular disease, which classically presents as lower motor neuron weakness and atrophy in the upper limbs and specifically the c7-t1 myotomes. |
2021-11-25 |
2023-08-13 |
Not clear |
| Mathilde Chivet, Caterina Marchioretti, Marco Pirazzini, Diana Piol, Chiara Scaramuzzino, Maria Josè Polanco, Vanina Romanello, Emanuela Zuccaro, Sara Parodi, Maurizio D'Antonio, Carlo Rinaldi, Fabio Sambataro, Elena Pegoraro, Gianni Soraru, Udai Bhan Pandey, Marco Sandri, Manuela Basso, Maria Pennut. Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism. Cells. vol 9. issue 2. 2021-02-10. PMID:32019272. |
polyglutamine (polyq) expansions in the androgen receptor (ar) gene cause spinal and bulbar muscular atrophy (sbma), a neuromuscular disease characterized by lower motor neuron (mn) loss and skeletal muscle atrophy, with an unknown mechanism. |
2021-02-10 |
2023-08-13 |
mouse |
| Hannelore K van der Burgh, Henk-Jan Westeneng, Jil M Meier, Michael A van Es, Jan H Veldink, Jeroen Hendrikse, Martijn P van den Heuvel, Leonard H van den Ber. Cross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease. NeuroImage. Clinical. vol 24. 2020-09-21. PMID:31499409. |
amyotrophic lateral sclerosis (als) is a progressive neuromuscular disease characterized by both upper and lower motor neuron degeneration. |
2020-09-21 |
2023-08-13 |
Not clear |
| Shannon Niedermeyer, Michael Murn, Philip J Cho. Respiratory Failure in Amyotrophic Lateral Sclerosis. Chest. vol 155. issue 2. 2019-11-15. PMID:29990478. |
amyotrophic lateral sclerosis is a progressive neuromuscular disease characterized by both lower motor neuron and upper motor neuron dysfunction. |
2019-11-15 |
2023-08-13 |
Not clear |
| Sònia Año. Acute lower motor neuron tetraparesis. The Veterinary clinics of North America. Small animal practice. vol 44. issue 6. 2015-08-04. PMID:25441630. |
flaccid nonambulatory tetraparesis or tetraplegia is an infrequent neurologic presentation; it is characteristic of neuromuscular disease (lower motor neuron [lmn] disease) rather than spinal cord disease. |
2015-08-04 |
2023-08-13 |
Not clear |
| Ximena Paez-Colasante, Bonnie Seaberg, Tara L Martinez, Lingling Kong, Charlotte J Sumner, Mendell Rime. Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. PloS one. vol 8. issue 9. 2014-07-18. PMID:24086650. |
in the inherited childhood neuromuscular disease spinal muscular atrophy (sma), lower motor neuron death and severe muscle weakness result from the reduction of the ubiquitously expressed protein survival of motor neuron (smn). |
2014-07-18 |
2023-08-12 |
mouse |
| Johnny S Salameh, Nazem Atassi, William S Davi. SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis. Muscle & nerve. vol 40. issue 5. 2009-12-01. PMID:19618436. |
amyotrophic lateral sclerosis (als) is a progressive degenerative neuromuscular disease that presents with upper and lower motor neuron signs. |
2009-12-01 |
2023-08-12 |
Not clear |
| S Wenzel, G Herrendorf, A Scheel, C Kurth, B J Steinhoff, C D Reimer. Surface EMG and myosonography in the detection of fasciculations: a comparative study. Journal of neuroimaging : official journal of the American Society of Neuroimaging. vol 8. issue 3. 1998-08-10. PMID:9664850. |
this study was conducted to evaluate the prevalence of fasciculations in 10 lower extremity muscles in 58 subjects 47 +/- 18 years of age without and 54 patients 52 +/- 15 years of age with various neuromuscular diseases (3 with inflammatory myopathy, 15 with lower motor neuron disease, 22 with acquired and 11 with hereditary motor and sensory neuropathy (hmsn), and 3 with adrenomyeloneuropathy). |
1998-08-10 |
2023-08-12 |
human |