Results 1 to 10 of about 256,729 (300)

Neuromuscular Disease

Journal of Pediatric Rehabilitation Medicine, 2016
Russell J, Butterfield, Nicholas E, Johnson   +1 more
doaj   +4 more sources

Hemodynamic Consideration in Intraoperative Neurophysiological Monitoring in Neuromuscular Scoliosis Surgery [PDF]

Annals of Rehabilitation Medicine, 2022
Objective To prove the hypothesis that the parameters of intraoperative neurophysiological monitoring (IONM) during will be more deteriorated in neuromuscular scoliosis (NMS) than in adolescent idiopathic scoliosis (AIS). Methods This retrospective study
Seok Young Chung, Chae Hwan Lim, Yoon Ghil Park, Hak Sun Kim, Dawoon Kim, Jinyoung Park   +5 more
doaj   +1 more source

Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy

European Journal of Histochemistry, 2022
Sarcoglycanopathies are highly heterogeneous in terms of disease progression, muscular weakness, loss of ambulation and cardiac/respiratory involvement.
Simona Zanotti, Francesca Magri, Francesca Poggetti, Michela Ripolone, Daniele Velardo, Francesco Fortunato, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco   +10 more
doaj   +1 more source

Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency [PDF]

Annals of Rehabilitation Medicine, 2020
Freeman-Sheldon syndrome (FSS) is a rare distal arthrogryposis syndrome. There are few reports on the respiratory insufficiency of FSS. Additionally, there is no detailed information on pulmonary functional evaluation. A 17-year-old male patient with FSS
Jihyun Park, Seong-Woong Kang, Won Ah Choi, Yewon Lee, Han Eol Cho   +4 more
doaj   +1 more source

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population

Metabolites, 2022
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited genetic mitochondrial disease with a typical onset in the first two decades of life and a major involvement of central nervous system ...
Simona Zanotti, Daniele Velardo, Monica Sciacco   +2 more
doaj   +1 more source

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations

BMC Neurology, 2022
Background Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by lower-limb spastic paraplegia with highly genetic and clinical heterogeneity.
Jiannan Chen, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Xuan Guo, Jing Hu   +6 more
doaj   +1 more source

Genetic neuromuscular disease [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2002
The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders.
Mary M, Reilly, Michael G, Hanna
openaire   +2 more sources

Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy [PDF]

, 2012
Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting primarily from the degeneration and loss of lower motor neurons.
A Lionikas, AD Ebert, B Wirth, BJ Turner, C Cifuentes-Diaz, Chantal A. Mutsaers, CL Lorson, CM McCann, CM Mutsaers, CS Lobsiger, D Angaut-Petit, Derek Thomson, G Feng, G Valdez, G Vrbova, Gillian Hamilton, GZ Mentis, H Ilieva, Huaibin Cai, J Hegedus, J Pearn, JN Sleigh, Joya E. Nahon, K Talbot, KK Ling, KK Ling, L Kong, LM Murray, LM Murray, LM Murray, LR Fischer, M Ruggui, MC Brown, MR Lunn, R Dengler, S Kariya, S Kariya, S Lefebvre, S Pun, S Saxena, Simon H. Parson, Sophie R. Thomson, SR Thomson, T Yamazaki, TH Gillingwater, Thomas H. Gillingwater, UR Monani, WG Bradley, Z Feng   +48 more
core   +8 more sources

Improvement of Peak Cough Flow After the Application of a Mechanical In-exsufflator in Patients With Neuromuscular Disease and Pneumonia: A Pilot Study [PDF]

Annals of Rehabilitation Medicine, 2018
Objective To investigate and demonstrate persistent increase of peak cough flow after mechanical in-exsufflator application, in patients with neuromuscular diseases and pneumonia.
Ji Ho Jung, Hyeon Jun Oh, Jang Woo Lee, Mi Ri Suh, Jihyun Park, Won Ah Choi, Seong-Woong Kang   +6 more
doaj   +1 more source

The era of cryptic exons: implications for ALS-FTD

Molecular Neurodegeneration, 2023
TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises from the nucleus to the cytoplasm in a range of neurodegenerative disorders.
Puja R. Mehta, Anna-Leigh Brown, Michael E. Ward, Pietro Fratta   +3 more
doaj   +1 more source