Results 41 to 50 of about 45,526 (300)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy

Neurotherapeutics
Spinal muscular atrophy is no longer a leading cause of inherited infant death in the United States. Since 2016, three genetic therapies have been approved for the treatment of spinal muscular atrophy.
Megan A. Waldrop
doaj   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

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

The Indian Anaesthetists' Forum, 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
doaj  

Therapeutic Implants: Mechanobiologic Enhancement of Osteogenic, Angiogenic, and Myogenic Responses in Human Mesenchymal Stem Cells on 3D‐Printed Titanium Truss

Advanced Healthcare Materials, EarlyView.
This study investigates a synergistic effect between 3D‐printed surface features and mechanical micro‐strain in enhancing the osteogenic, angiogenic, and myogenic responses of human mesenchymal stem cells (hMSCs). Load‐induced mechanotransduction, facilitated by the implant's architectural design, significantly amplifies hMSC differentiation.
Se‐Hwan Lee, Ali Kiapour, Brendan D. Stoeckl, Ellen Y. Zhang, Matthew R. Begley, Jarod Oldham, Lewis Harrison, Jessee Hunt, Robert L. Mauck, Su Chin Heo   +9 more
wiley   +1 more source

Insights into spinal muscular atrophy from molecular biomarkers

Neural Regeneration Research
Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness. It is one of the most common genetic causes of mortality among infants aged less than 2 years. Biomarker research is currently receiving
Xiaodong Xing, Xinzhu Liu, Xiandeng Li, Mi Li, Xian Wu, Xiaohui Huang, Ajing Xu, Yan Liu, Jian Zhang   +8 more
doaj   +1 more source

Molecular markers of disease severity and response to nusinersen therapy in 5q spinal muscular atrophy (literature review)

Нервно-мышечные болезни, 2023
Currently, there are three drugs in the world for the pathogenetic therapy of spinal muscular atrophy 5q: nusinersen, risdiplam and onasemnogene abeparvovek.
K. D. Popov, T. M. Alekseeva, V. D. Nazarov, A. I. Vlasenko, S. M. Malyshev   +4 more
doaj   +1 more source

Spinal and Bulbar Muscular Atrophy [PDF]

Neurologic Clinics, 2015
Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Affected males typically develop weakness in their mid-40s as well as evidence of androgen insensitivity with reduced fertility and gynecomastia.
Kenneth H. Fischbeck, Christopher Grunseich   +1 more
openaire   +3 more sources

Granular Hydrogels as Modular Biomaterials: From Structural Design to Biological Responses

Advanced Healthcare Materials, EarlyView.
Granular hydrogels are now emerging as promising biomaterials due to their inherent microporousity, injectability, and modularity. They have shown improvements in cell viability and migration, cellular/tissue infiltration, host tissue integration, mitigated foreign body response, and tissue regeneration.
Asmasadat Vaziri, Renata Maia, Pei Zhang, Liliana Agresti, Jelmer Sjollema, Mohammad‐Ali Shahbazi, Hélder A. Santos   +6 more
wiley   +1 more source

Effect of the COVID-19 Pandemic on Children With SMA Receiving Nusinersen: What Is Missed and What Is Gained?

Frontiers in Neurology, 2021
Nusinersen is the first oligonucleotide-based drug that is approved for the treatment of spinal muscular atrophy. In January 2020, the WHO declared COVID-19 a pandemic and nusinersen-provider centers had to postpone planned infusions for some children ...
Caterina Agosto, Eleonora Salamon, Luca Giacomelli, Simonetta Papa, Francesca Benedetti, Franca Benini   +5 more
doaj   +1 more source