Results 51 to 60 of about 1,670 (170)

The Classical Complement Pathway Mediates Microglia-Dependent Remodeling of Spinal Motor Circuits during Development and in SMA

Cell Reports, 2019
Summary: Movement is an essential behavior requiring the assembly and refinement of spinal motor circuits. However, the mechanisms responsible for circuit refinement and synapse maintenance are poorly understood.
Aleksandra Vukojicic, Nicolas Delestrée, Emily V. Fletcher, John G. Pagiazitis, Sethu Sankaranarayanan, Ted A. Yednock, Ben A. Barres, George Z. Mentis   +7 more
doaj  

Psychological burden in spinal muscular atrophy patients and their families: a systematic review

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
Background Spinal muscular atrophy (SMA) is an autosomal-recessive disorder that manifests in paralysis and skeletal muscle weaknesses. This neuromuscular problem is caused by degeneration of the spinal cord anterior horn cells. Main body of the abstract
Dian Marta Sari, Laurentia Cindy Gani Wijaya, Wintoro Duraman Roives Sitorus, Mia Milanti Dewi   +3 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Neuroprotective effect of non-viral gene therapy treatment based on tetanus toxin C-fragment in a severe mouse model of Spinal Muscular Atrophy.

Frontiers in Molecular Neuroscience, 2016
Spinal muscular atrophy (SMA) is a hereditary childhood disease that causes paralysis and progressive degeneration of skeletal muscles and spinal motor neurons.
Sara Olivan Garcia, Sara Olivan Garcia, Ana Cristina Calvo, Amaya Rando, Mireia Herrando-Grabulosa, Raquel Manzano, Pilar Zaragoza, Eduardo Fidel Tizzano, Jose Aguilera, Rosario Osta   +9 more
doaj   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez, Thomas Lilieholm, Walter F. Block   +2 more
wiley   +1 more source

Central Pathophysiology and Brain Network Changes Related to Camptocormia in Parkinson's Disease

Movement Disorders, EarlyView.
ABSTRACT Background Studies on brain connectivity offer important insights into the changes that occur in central network diseases such as Parkinson's disease (PD). Camptocormia, a condition characterized by abnormal flexion of the trunk, often occurs in advanced PD, but its underlying mechanisms are not yet clear.
Tauqeer Anjum, Jan Raethjen, Hao Ding, Nabin Koirala, Rüdiger Pryss, Robin Wolke, Chi Wang Ip, Günther Deuschl, Jens Volkmann, Nils G. Margraf, Muthuraman Muthuraman   +10 more
wiley   +1 more source

Genetic testing for spinal muscular atrophy (SMA) in South Africa.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2006
Extracted from text ... March 2006, Vol. 96, No. 3 SAMJ SCIENTIFIC LETTERS 200 To the Editor: Spinal muscular atrophy (SMA) is an autosomalrecessive neuromuscular disorder that results in progressive muscle weakness and atrophy due to the degeneration of the anterior horn cells of the spinal cord.
Robyn Labrum, John L. Rodda, Amanda Krause   +2 more
openaire   +3 more sources

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  

Evaluating the Effects of Nusinersen Treatment in Adults With Spinal Muscular Atrophy Using Axonal Excitability and MscanFit MUNE

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims The biological changes in motor neurons and motor axons that correlate with the clinical benefits of nusinersen, an antisense oligonucleotide, in spinal muscular atrophy (SMA) remain poorly understood. This study aimed to investigate changes in axonal excitability and motor unit number estimation (MUNE) parameters following a
Abir Alaamel, Nazan Şimşek Erdem, Gökçe Yağmur Güneş Gencer, Hüseyin Can Kaya, Hilmi Uysal   +4 more
wiley   +1 more source