Results 71 to 80 of about 888,799 (202)

Clinical research advance of therapeutic strategies for spinal muscular atrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy caused by degeneration of brain stem and spinal cord motor neurons. SMA is common genetic neuromuscular disorder that
Jing LI, Cheng ZHANG
doaj  

Artificial structures for human‐machine interfaces with closed‐loop interaction

FlexMat, EarlyView.
Artificial structures bridge sensing and feedback in closed‐loop human‐machine interfaces by providing geometry‐enabled mechanical and functional programmability. This review maps the role of artificial structures in diverse sensing modalities and feedback strategies, and illustrates their integration into closed‐loop interaction systems, highlighting ...
Taiqi Hu, Taisong Pan, Siqi Chen, Yiting Zhang, Yuan Lin   +4 more
wiley   +1 more source

Anaesthetic Management of Spinal Muscular Atrophy For Laparoscopic Cholecystectomy [PDF]

, 2006
We report the anaesthetic management of a female patient with Spinal Muscular Atrophy (SMA) presented for laparoscopic cholecystectomy. In order to avoid prolonged recovery; we chose to use total intravenous anaesthesia (TIVA) with propofol and ...
Dr. E. Argyra / Dr. C. Staikou / Dr. G. Polymeneas / Dr. C. M. Markatou
core  

Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]

, 2014
As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
core   +1 more source

Electronic Devices and Digital Therapeutics in Neuromuscular Diseases: Narrative Review on Current Applications in Patients' Management and Pharmacovigilance

Health Care Science, EarlyView.
Digital innovations are revolutionizing neuromuscular disease management by integrating wearable sensors, mobile applications, and telemedicine to enable continuous monitoring and personalized care. These technologies enhance diagnosis, treatment, and drug development fostering dynamic interaction between patients and clinicians paving the way toward ...
Ilaria Saltarella, Concetta Altamura, Paola Laghetti, Giuseppina Settanni, Nicola Savino, Angelo Galiano, Bodvaël Fraysse, Angelo Vacca, Jean‐François Desaphy   +8 more
wiley   +1 more source

Splicing therapeutics in SMN2 and APOB [PDF]

, 2009
Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR, Khoo, B., Krainer, A. R., Khoo, B   +3 more
core  

Establishing a standardized therapeutic testing protocol for spinal muscular atrophy

Neurobiology of Disease, 2006
Several mice models have been created for spinal muscular atrophy (SMA); however, there is still no standard preclinical testing system for the disease.
Li-Kai Tsai, Ming-Shung Tsai, Tzer-Bin Lin, Wuh-Liang Hwu, Hung Li   +4 more
doaj   +1 more source

Disease‐specific body composition patterns in children with cerebral palsy and spinal muscular atrophy

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Spinal muscular atrophy (SMA) and cerebral palsy (CP) are severe neurological conditions characterized by neurodegeneration and non‐progressive brain injury, respectively, both profoundly affecting the nutritional status in children.
Giulia Fiore, Sara Vizzuso, Ramona De Amicis, Barbara Borsani, Mireia Escudero‐Marín, Alessandra Mari, Francesca Destro, Hatim Azaryah, Chiara Mastella, Anna Mandelli, Laura Stabilini, Alessandra Bosetti, Francesca Izzo, Elena Zoia, Eleonora Bonaventura, Lorenzo Norsa, Davide Tonduti, Gloria Pelizzo, Cristina Campoy, Simona Bertoli, Gianvincenzo Zuccotti, Elvira Verduci   +21 more
wiley   +1 more source

PREGNANCY AND CHILDBIRTH IN A PATIENT WITH SPINAL MUSCULAR ATROPFY (CLINICAL CASE)

Мать и дитя в Кузбассе, 2020
Spinal muscle atrophy (SMA) is a group of diseases inherited by an autosomal recessive type and characterized by degeneration of cells of the anterior horns of the spinal cord.
Ирина Анатольевна Ушакова, Нонна Марковна Шибельгут, Игорь Анатольевич Гнусарев, Екатерина Владимировна Литовченко, Вадим Гельевич Мозес, Елена Владимировна Рудаева, Светлана Ивановна Елгина   +6 more
doaj  

Generation of a spinal muscular atrophy type III patient-specific induced pluripotent stem cell line ICGi003-A

Stem Cell Research, 2020
Spinal muscular atrophy (SMA) is a genetic disease, which characterized by the degeneration of motor neurons in the spinal cord and further striated muscle atrophy. The research of the processes in diseased neurons is complicated due to the impossibility
V.S. Ovechkina, M.A. Maretina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, S.M. Zakian, K.R. Valetdinova   +6 more
doaj   +1 more source