Results 101 to 110 of about 3,107 (205)

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q‐Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study

European Journal of Neurology, Volume 32, Issue 11, November 2025.
This study evaluated changes in compound muscle action potential (CMAP) amplitudes in 78 adults with spinal muscular atrophy (SMA) treated with nusinersen and their association with motor function. CMAP amplitudes remained stable over time, showing no significant differences between SMA types 2 and 3 or correlations with motor function scales.
Bogdan Bjelica, Camilla Wohnrade, Alma Osmanovic, Olivia Schreiber‐Katz, Sonja Koerner, Katja Kollewe, Sebastian Haeckl, Maren Freigang, Isabell Cordts, Benedikt Becker, Charlotte Vogt, Mohamad Tareq Muhandes, René Günther, Marcus Deschauer, Jan C. Koch, Matthias Tuerk, Martin Regensburger, Christoph Neuwirth, Susanne Petri   +18 more
wiley   +1 more source

Pharmacy Newsletter : July 2022 [PDF]

, 2022
Content: TOX TOK! Liquid Nicotine Used in E-Cigarettes can Harm Children Monkey Pox FAQs Clinical Understanding of Different Formulations of Tenofovir: TDF Versus TAF Fluids And Electrolytes Maintenance Calculation In Pediatric Patients A NEW Warning :
Pharmacy Department,
core   +1 more source

Loss of SMN Impairs Osteoblast–Osteoclast Coupling via IGF1–Akt–OPG Axis in Spinal Muscular Atrophy

The FASEB Journal, Volume 39, Issue 20, 31 October 2025.
Loss of SMN impairs osteoblast–osteoclast coupling by disrupting the IGF1–Akt–OPG signaling axis, which leads to defective bone remodeling in spinal muscular atrophy. The graphical abstract highlights this molecular mechanism underlying skeletal pathology in SMA.
Taiyang Xiang, Zijie Zhou, Yaoyao Li, Yinxuan Suo, Jun Dai, Xiaoyan Shi, Xiaozhong Zhou, Lei Sheng   +7 more
wiley   +1 more source

Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

EMBO Molecular Medicine
Physiological regulation of transgene expression is a major challenge in gene therapy. Onasemnogene abeparvovec (Zolgensma®) is an approved adeno-associated virus (AAV) vector gene therapy for infants with spinal muscular atrophy (SMA), however, adverse ...
Qing Xie, Xiupeng Chen, Hong Ma, Yunxiang Zhu, Yijie Ma, Leila Jalinous, Gerald F Cox, Fiona Weaver, Jun Yang, Zachary Kennedy, Alisha Gruntman, Ailing Du, Qin Su, Ran He, Phillip WL Tai, Guangping Gao, Jun Xie   +16 more
doaj   +1 more source

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidence.

Journal of Neuromuscular Diseases
BackgroundSince the approval of onasemnogen abeparvovec (OA) for gene addition therapy in children with spinal muscular atrophy (SMA), there has been a considerable increase of evidence regarding its effectiveness and safety.
Weiß, Claudia, Vill, Katharina, Baumann, Matthias, Bernert, Günther, Blaschek, Astrid, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Friese, Johannes, Ganter, Claudia, Goldhahn, Klaus, Hahn, Andreas, von der Hagen, Maja, Hartmann, Hans, Hasselmann, Oswald, Horber, Veronka, Husain, Ralf A, Illsinger, Sabine, Jacquier, David, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Kolodzig, Michael, Klein, Andrea, Pechmann, Astrid, von Moers, Arpad, Müller-Felber, Wolfgang, Rauscher, Christian, Schara-Schmidt, Ulrike, Schreiber, Gudrun, Schwartz, Oliver, Sproß, Joachim, Stettner, Georg M, Stoltenburg, Corinna, Stumpe, Eva, Trollmann, Regina, Wiegand, Gert, Wilichowski, Ekkehard, Kirschner, Janbernd, Ziegler, Andreas   +38 more
openalex   +2 more sources

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, Volume 12, Issue 10, Page 2020-2035, October 2025.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam [PDF]

Risdiplam is a once-daily oral, survival of motor neuron 2 (SMN2) splicing modifier approved for the treatment of spinal muscular atrophy (SMA). JEWELFISH (NCT03032172) investigated the safety, tolerability, pharmacokinetics (PK), and PK/pharmacodynamic (
Bruno, Claudio, Carruthers, Imogen, Chiriboga, Claudia A, Duong, Tina, Fischer, Dirk, Fontoura, Paulo, Gorni, Ksenija, Jaber, Birgit, JEWELFISH Study Group, Kirschner, Janbernd, Kletzl, Heidemarie, Kostera-Pruszczyk, Anna, Martin, Carmen, Mercuri, Eugenio, Muntoni, Francesco, Scalco, Renata S   +15 more
core  

Drug Candidate BIO101 for Spinal Muscular Atrophy as Monotherapy or Combined With the Antisense Oligonucleotide ASO‐10‐27

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 5, October 2025.
ABSTRACT Background Spinal muscular atrophy (SMA) is a neuromuscular disease caused by loss of survival of motor neuron (SMN) protein inducing progressive muscle weakness and atrophy due to motor neurons degeneration. Despite benefits of SMN restoration therapies in patients, motor defects are still persistent.
Cynthia Bézier, Steve Cottin, Parvin Nazari Hashemi, Mirella El Khoury, Zoé Clerc, Christine Balducci, Delphine Sapaly, Laure Weill, René Lafont, Stanislas Veillet, Pierre J. Dilda, Frédéric Charbonnier, Mathilde Latil, Olivier Biondi   +13 more
wiley   +1 more source

Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy

Acta Neurologica Taiwanica
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease characterized by progressive weakness and atrophy of skeletal muscles. With homozygous survival motor neuron 1 (SMN1) gene mutation, all SMA patients have at least one copy of ...
Li-Kai Tsai, Chen-Hung Ting, Yo-Tsen Liu, Cheng-Tsung Hsiao, Wen-Chin Weng, Society for Neurological Rare Disorders-Taiwan   +5 more
doaj   +1 more source

Treatment strategies for patients with spinal muscular atrophy [PDF]

peer ...
De Waele, Liesbeth, Servais, Laurent
core   +2 more sources