Literature DB >> 27704495

Neuromuscular Diseases.

Brett M Morrison1.   

Abstract

Neuromuscular diseases are a broadly defined group of disorders that all involve injury or dysfunction of peripheral nerves or muscle. The site of injury can be in the cell bodies (i.e., amyotrophic lateral sclerosis [ALS] or sensory ganglionopathies), axons (i.e., axonal peripheral neuropathies or brachial plexopathies), Schwann cells (i.e., chronic inflammatory demyelinating polyradiculoneuropathy), neuromuscular junction (i.e., myasthenia gravis or Lambert-Eaton myasthenic syndrome), muscle (i.e., inflammatory myopathy or muscular dystrophy), or any combination of these sites. Some neuromuscular diseases are also associated with central nervous system disease, such as ALS, but most are restricted to the peripheral nervous system. The multitude of possible sites of injury can make neuromuscular diseases difficult to diagnose. Here the author reviews key features of the clinical presentation that help localize the site of injury and some basic tenets of electromyography. He then shares several pearls in diagnosing and treating patients with specific neuromuscular diseases. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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Mesh:

Year:  2016        PMID: 27704495     DOI: 10.1055/s-0036-1586263

Source DB:  PubMed          Journal:  Semin Neurol        ISSN: 0271-8235            Impact factor:   3.420


  10 in total

1.  ActRIIB:ALK4-Fc alleviates muscle dysfunction and comorbidities in murine models of neuromuscular disorders.

Authors:  Jia Li; Maureen Fredericks; Marishka Cannell; Kathryn Wang; Dianne Sako; Michelle C Maguire; Rosa Grenha; Katia Liharska; Lavanya Krishnan; Troy Bloom; Elitza P Belcheva; Pedro A Martinez; Roselyne Castonguay; Sarah Keates; Mark J Alexander; Hyunwoo Choi; Asya V Grinberg; R Scott Pearsall; Paul Oh; Ravindra Kumar; Rajasekhar Nvs Suragani
Journal:  J Clin Invest       Date:  2021-02-15       Impact factor: 14.808

Review 2.  Neuromuscular diseases and their cardiac manifestations under the spectrum of cardiovascular imaging.

Authors:  Georgios M Alexandridis; Efstathios D Pagourelias; Nikolaos Fragakis; Maria Kyriazi; Efthymia Vargiami; Dimitrios Zafeiriou; Vassilios P Vassilikos
Journal:  Heart Fail Rev       Date:  2022-07-20       Impact factor: 4.654

Review 3.  Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.

Authors:  Anthony Tucker-Bartley; Jordan Lemme; Andrea Gomez-Morad; Nehal Shah; Miranda Veliu; Frank Birklein; Claudia Storz; Seward Rutkove; David Kronn; Alison M Boyce; Eduard Kraft; Jaymin Upadhyay
Journal:  Neurosci Biobehav Rev       Date:  2021-02-10       Impact factor: 9.052

Review 4.  Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1.

Authors:  Laure de Pontual; Stéphanie Tomé
Journal:  Int J Mol Sci       Date:  2022-03-23       Impact factor: 5.923

Review 5.  3D in vitro Models of Pathological Skeletal Muscle: Which Cells and Scaffolds to Elect?

Authors:  Eugenia Carraro; Lucia Rossi; Edoardo Maghin; Marcella Canton; Martina Piccoli
Journal:  Front Bioeng Biotechnol       Date:  2022-07-11

Review 6.  Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies.

Authors:  Panagiota Panagiotou; Christina Kanaka-Gantenbein; Athanasios G Kaditis
Journal:  Children (Basel)       Date:  2022-08-11

7.  Retrograde Axonal Transport of Liposomes from Peripheral Tissue to Spinal Cord and DRGs by Optimized Phospholipid and CTB Modification.

Authors:  Takafumi Fukui; Hironao Tateno; Takashi Nakamura; Yuma Yamada; Yusuke Sato; Norimasa Iwasaki; Hideyoshi Harashima; Ken Kadoya
Journal:  Int J Mol Sci       Date:  2022-06-15       Impact factor: 6.208

8.  Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit.

Authors:  Federica Scalia; Rosario Barone; Francesca Rappa; Antonella Marino Gammazza; Fabrizio Lo Celso; Giosuè Lo Bosco; Giampaolo Barone; Vincenzo Antona; Maria Vadalà; Alessandra Maria Vitale; Giuseppe Donato Mangano; Domenico Amato; Giusy Sentiero; Filippo Macaluso; Kathryn H Myburgh; Everly Conway de Macario; Alberto J L Macario; Mario Giuffrè; Francesco Cappello
Journal:  Front Mol Biosci       Date:  2022-06-02

Review 9.  Current Progress in the Creation, Characterization, and Application of Human Stem Cell-derived in Vitro Neuromuscular Junction Models.

Authors:  Eileen Lynch; Emma Peek; Megan Reilly; Claire FitzGibbons; Samantha Robertson; Masatoshi Suzuki
Journal:  Stem Cell Rev Rep       Date:  2021-07-01       Impact factor: 5.739

10.  Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001).

Authors:  Takashi Nakajima; Yoshiyuki Sankai; Shinjiro Takata; Yoko Kobayashi; Yoshihito Ando; Masanori Nakagawa; Toshio Saito; Kayoko Saito; Chiho Ishida; Akira Tamaoka; Takako Saotome; Tetsuo Ikai; Hisako Endo; Kazuhiro Ishii; Mitsuya Morita; Takashi Maeno; Kiyonobu Komai; Tetsuhiko Ikeda; Yuka Ishikawa; Shinichiro Maeshima; Masashi Aoki; Michiya Ito; Tatsuya Mima; Toshihiko Miura; Jun Matsuda; Yumiko Kawaguchi; Tomohiro Hayashi; Masahiro Shingu; Hiroaki Kawamoto
Journal:  Orphanet J Rare Dis       Date:  2021-07-07       Impact factor: 4.123

  10 in total

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