Results 91 to 100 of about 2,700 (197)

Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho, Renata Monteiro Jovino, Betina S. Tomaz, Paulo R. Nóbrega, Marcelo A. Holanda   +4 more
wiley   +1 more source

Quantitative Whole‐Body Muscle MRI in Adults With Spinal Muscular Atrophy–A Sensitive Tool for Long‐Time Evaluation of Disease Progression

European Journal of Neurology, Volume 33, Issue 3, March 2026.
Quantitative muscle MRI is emerging as an objective biomarker for monitoring therapy in neuromuscular disorders, yet long‐term trajectories in slowly progressive adult spinal muscular atrophy (SMA) remain unclear. In this study, quantitative MRI parameters in nusinersen‐treated adults were longitudinally evaluated and compared with established clinical
Alexander Mensch, Benjamin Troppa, Ilka Schneider, Caroline Deborah Stapf, Anna Katharina Koelsch, Thomas Kendzierski, David Strube, Sebastian Plutz, Max Obenauf, Karl‐Stefan Delank, Torsten Kraya, Markus Otto, Dietrich Stoevesandt, Steffen Naegel   +13 more
wiley   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 218-241, February 2026.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 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

Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy

International Journal of Neonatal Screening
Spinal muscular atrophy (SMA) causes the degeneration of motor neurons in the spinal cord. Treatments including nusinersen, risdiplam, and onasemnogene abeparvovec have been shown to be effective in reducing symptoms, with recent studies suggesting ...
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill, Alice Bessey   +7 more
doaj   +1 more source

Examination of the Peripheral Nervous System in Children With Spinal Muscular Atrophy: A High‐Resolution Ultrasonographic Study

Brain and Behavior, Volume 16, Issue 2, February 2026.
This study aimed to analyze the structure and cross‐sectional area (CSA) of the median nerve in children with spinal muscular atrophy (SMA) and evaluate the usefulness of high‐resolution ultrasound (HRUS) imaging for the monitoring of peripheral nerves in these children.
Janina Wurster, Erin West, Sandro Meier, Noé Phillip Bürke, Lynn Jansen, Philip Julian Broser   +5 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

Progress in RNA‐Targeted Therapeutics for Human Diseases

MedComm, Volume 7, Issue 2, February 2026.
RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang, Aimin Jiang, Bin‐Kui Jia, Yuming Jin, Yinghu Chen, Zhaoyu Li, Yan Liao, Haoling Zhang, Zhiheng Lin, Xiao Fang, Linhui Wang   +10 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

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
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