Results 71 to 80 of about 116,027 (330)

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
core   +2 more sources

Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment

Annals of Clinical and Translational Neurology, 2021
To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q‐associated ...
M. Freigang, C. Wurster, T. Hagenacker, B. Stolte, M. Weiler, C. Kamm, O. Schreiber-Katz, Alma Osmanovic, S. Petri, A. Kowski, T. Meyer, J. Koch, I. Cordts, M. Deschauer, P. Lingor, Elisa Aust, Daniel Petzold, A. Ludolph, Björn H Falkenburger, A. Hermann, R. Günther   +20 more
semanticscholar   +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

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes [PDF]

, 2017
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
Blaauw, Bert, Borgia, Doriana, Gomes Pereira, Marcelo, Lieberman, Andrew P., Maino, Eleonora, Malena, Adriana, Marchioretti, Caterina, Milioto, Carmelo, Pegoraro, Elena, Pennuto, Maria, Pennuto, Maria, Plebani, Mario, Polanco, Maria J., Sambataro, Fabio, Sambataro, Fabio, Sorar, Gianni, Soraru', Gianni, Venturini, Roberta, Vergani, Lodovica   +18 more
core   +3 more sources

Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme

Developmental Medicine & Child Neurology, 2021
This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).
Arlene M. D'Silva, Didu S. T. Kariyawasam, S. Best, V. Wiley, M. Farrar   +4 more
semanticscholar   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 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

Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]

, 2020
The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David, deCarvalho, Mamede, Grosskreutz, Julian, Kiernan, Matthew C, Leigh, P Nigel, Swash, Michael, Turner, Martin R   +6 more
core   +1 more source

Mitochondrial Dysfunction in Spinal Muscular Atrophy

International Journal of Molecular Sciences, 2022
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by recessive mutations in the SMN1 gene, globally affecting ~8–14 newborns per 100,000.
Eleonora Zilio, V. Piano, B. Wirth
semanticscholar   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source