Results 91 to 100 of about 7,657 (243)

Are PARKIN patients ideal candidates for dopaminergic cell replacement therapies? [PDF]

, 2018
Parkinson's is a heterogeneous, complex condition. Stratification of Parkinson's subtypes will be essential to identify those that will benefit most from a cell replacement therapy.
Chan, Claire, Chen, Yixi, Khan, Sadaquate, Kunath, Tilo, Muqit, Miratul M. K., Natalwala, Ammar, Stecher, Benjamin, Taylor, Martin   +7 more
core   +3 more sources

Utility of Far‐Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1089-1095, June 2026.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluated the utility of ulnar nerve FFP as a robust research biomarker of lower motor neuron degeneration in spinal muscular atrophy (SMA).
Aicee Dawn Calma, Nathan Pavey, Cláudia Santos Silva, Yukiko Tsuji, Amirul Ab Ghapar, Katrina Morris, Matthew C. Kiernan, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +9 more
wiley   +1 more source

A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis - possibility of preventing scoliosis with a rehabilitation program focusing on postural management.

Brain & development (Tokyo. 1979)
BACKGROUND Early-onset scoliosis, which develops before 2 years of age and progresses rapidly, has been reported as an inevitable complication in spinal muscular atrophy (SMA) patients with 2 copies of the survival motor neuron 2 (SMN2) gene that receive
T. Kimizu, Saki Yokawa, Takuya Horibe, Keisuke Oki, Ken Nakajima, Koji Tominaga, Y. Mogami, Daisuke Tamura, Keiko Yanagihara   +8 more
semanticscholar   +1 more source

Risdiplam Add‐On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi‐Center Case Series

Muscle &Nerve, Volume 73, Issue 6, Page 1164-1171, June 2026.
ABSTRACT Introduction/Aims Three disease‐modifying therapies are approved for individuals with spinal muscular atrophy (SMA); however, data concerning the combination of these therapies remain limited. This study aimed to evaluate the safety and efficacy of add‐on risdiplam in children who had experienced clinical deterioration despite gene therapy ...
Corinna Stoltenburg, Klaus Goldhahn, Arpad von Moers, Angela M. Kaindl, Claudia Weiß   +4 more
wiley   +1 more source

Impairment experiences, identity and attitudes towards genetic screening : the views of people with Spinal Muscular Atrophy [PDF]

, 2017
Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications.
A Asch, A Gontard Von, A Middleton, A Petersen, B Glaser, C Benjamin, C Cornelis, C Lamb, C Pugh, C Wang, D Skinner, D Wells, E Chen, E Parens, E Watson, F Boardman, F Campbell, Felicity K. Boardman, Frances E. Griffiths, GB Willis, H Hahn, H Ho, J Jeppesen, J Malek, JM Green, K Bogart, K Bogart, K Charmaz, K Reed, L Locock, L Pei-Jung, M Allyse, M Bury, M Butchbatch, M Norton, M Peterson, MC Leo, N Watson, P Hauser-Cram, P Wolfe De, Philip J. Young, R Kenen, R Shuttleworth, R Sukenik-Halevy, S Ahmed, S Stern, SD Edwards, T Dragonas, T Shakespeare, TW Prior, V Dubowitz, V Sinason, VL Plano Clark   +52 more
core   +1 more source

Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China

Journal of Neurology
To evaluate the effectiveness and safety of nusinersen for the treatment of 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients. Using a longitudinal, multi-center registry, both prospective and retrospective data were collected from ...
Xiaoli Yao, Jing Peng, Rong Luo, Xiuxia Wang, Xinguo Lu, Liwen Wu, Ruifeng Jin, Jianmin Zhong, Jianmin Liang, Siqi Hong, Lin Yang, Xiaoli Zhang, S. Mao, Jun Hu, Zhe Tao, Dan Sun, Hua Wang, Li Zhang, Yanyan Xia, Ken Chen, Yi Wang   +20 more
semanticscholar   +1 more source

Optimizing Oligonucleotide Therapeutics: A Model‐Informed Drug Development Perspective

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Oligonucleotide therapies have emerged as a powerful therapeutic class, providing novel solutions for diverse diseases through antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), and aptamers that specifically target and modulate gene expression or protein function. However, oligonucleotide development faces distinct challenges,
Ye Yuan, Vishnu Sharma, Venkatesh Atul Bhattaram, Xiaolei Pan, Justin Earp, Yun Wang, Jiang Liu, Hao Zhu   +7 more
wiley   +1 more source

Development and validation of an HILIC/MS/MS method for determination of nusinersen in rabbit plasma

Heliyon
A hydrophilic interaction liquid chromatography tandem mass spectrometry (HILIC/MS/MS) method was developed and validated for the quantitative analysis of the fully phosphorothioate modified oligonucleotide nusinersen.
Xiao Zhang, Chunjie Sha, Wei Zhang, Fengjuan Zhao, Mingli Zhu, Guangyi Leng, Wanhui Liu   +6 more
doaj   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 696-705, May 2026.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3. [PDF]

Eur J Pediatr
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder characterized by respiratory decline. While nusinersen improves motor function, its long-term respiratory effects in milder SMA types (2 and 3) remain unclear.
Rochman M, Shay Levanon D, Amirav I, Be'er M, Cahal M, Besor O, Fattal-Valevski A, Lavie M.   +7 more
europepmc   +2 more sources