Results 41 to 50 of about 19,843 (235)

Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies

Arquivos de Neuro-Psiquiatria
Background Spinal muscular atrophy (SMA-5q) is a neurodegenerative disease characterized by progressive muscle atrophy, hypotonia, and weakness, with SMA 1 presenting symptoms within the first 6 months of life. Disease-modifying therapies have
Brenda Klemm Arci Mattos de Freitas Alves, Alexandra Prufer de Queiroz Campos Araujo, Flávia Nardes dos Santos, Márcia Gonçalves Ribeiro   +3 more
doaj   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report

BMC Anesthesiology
Background Spinal Muscular Atrophy (SMA) is a rare autosomal recessive genetic disorder characterized by degeneration of motor neurons in the spinal cord, resulting in progressive limb muscle weakness, atrophy, and severe scoliosis.
Zhuangyuan Chen, Xiaowei Chen, Xiyun Liang, Qiang Niu, Yauwai Chan, Xuebing Xu   +5 more
doaj   +1 more source

Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy

Neuroscience Insights, 2020
Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 ( SMN1 ) gene, while less than 5% of cases are attributed to genes other than SMN . Mutations in LMNA , the lamin A/C encoding gene, cause an adult form
Darija Šoltić, Heidi R Fuller
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Purpose‐Adaptable Reinforced 3D Hyaluronic‐Acid Based Platform to Study Pathomechanisms of the Central Nervous System

Advanced Healthcare Materials, EarlyView.
Platform system to create biofabricated 3D spinal cord tissue models: Combining high resolution PCL fiber placement, a customized, hyaluronic acid‐based hydrogel, two cell types (spinal cord neurons and astrocytes) together with three distinct laminin isoforms allow the formation of functional cell–cell network interactions.
Nicoletta Murenu, Esra Tuerker, Anna‐Lena Wiessler, Jessica Faber, Ievgenii Liashenko, Jeanette Weigelt, Jörg Tessmar, Paul D. Dalton, Sibylle Jablonka, Mateo S. Andrade Mier, Carmen Villmann, Silvia Budday, Natascha Schaefer   +12 more
wiley   +1 more source

The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1

Pakistan Journal of Medicine and Dentistry
Spinal muscular atrophy (SMA) is a hereditary neuromuscular condition caused by mutations in the Survival Motor Neuron 1 gene. This report presents a clinical description of a case diagnosed with SMA and highlights the significance of early recognition ...
Almas Siddique, Shanzay Siddique, Erum Akhter   +2 more
doaj   +1 more source

ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons

Cell Death Discovery, 2023
Spinal Muscular Atrophy (SMA) is a severe genetic neuromuscular disorder that occurs in childhood and is caused by misexpression of the survival motor neuron (SMN) protein.
Alba Sansa, Maria P. Miralles, Maria Beltran, Ferran Celma-Nos, Jordi Calderó, Ana Garcera, Rosa M. Soler   +6 more
doaj   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol [PDF]

Einstein (São Paulo)
Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and maximum motor ...
Elice Carneiro Batista, Edmar Zanoteli, Frederico Monfardini, Gustavo Prado dos Santos, Gisele Sampaio Silva, Otávio Berwanger, Luiz Vicente Rizzo, Henrique Andrade Rodrigues da Fonseca   +7 more
doaj   +1 more source