Results 131 to 140 of about 1,143 (221)

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0. [PDF]

Mol Genet Genomic Med
Stokes S, Snipes M, Moore LD, Schlabritz-Lutsevich N, Amy V, Maher J.   +5 more
europepmc   +1 more source

Progressive Cerebellar Dysfunction, Pituitary Insufficiency, and Severe Skeletal Fragility in Adult Survivorship of Childhood Multisystem Langerhans Cell Histiocytosis: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Childhood‐onset multisystem Langerhans cell histiocytosis can lead to delayed adult morbidity involving the neurologic, hypothalamic–pituitary, and skeletal systems. Progressive cerebellar dysfunction, chronic pituitary insufficiency, and severe skeletal fragility may emerge years after apparent disease control, underscoring the need for ...
Suhaib Alnahar, Alaa Senjab, Sara Gharib, Zena Gharib, Lama Hadid   +4 more
wiley   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1. [PDF]

Dev Med Child Neurol
Brusa C, Buchignani B, Cutri C, Coratti G, Clark E, Johnson E, Cornell N, Scoto M, Pane M, Mercuri EM, Muntoni F, Baranello G, Language and Social Communication in SMA working group.   +12 more
europepmc   +1 more source

Glymphatic Dysfunction in Children With Type 2 and 3 Spinal Muscular Atrophy

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
This study reveals glymphatic dysfunction in children with spinal muscular atrophy (SMA), characterized by increased cerebrospinal fluid volume and reduced ALPS index. These alterations correlate with clinical severity, identifying glymphatic dysfunction as a previously unrecognized feature of SMA pathophysiology.
Shasha Lan, Pei Xiang, Cui Yan, Huirong Nie, Huan Wang, Boyan Xu, Zhiyun Yang, Wen Tang, Yijuan Li, Yujian Liang, Yingqian Chen   +10 more
wiley   +1 more source

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

BMC Anesthesiol
Chen Z, Chen X, Liang X, Niu Q, Chan Y, Xu X.   +5 more
europepmc   +1 more source

Recombinant Artemin‐Fc Fusion Protein Attenuates TLR4/NF‐κB‐Associated Neuroinflammation and Modulates Inhibitory/Excitatory Synaptic Marker Expression After Spinal Cord Injury

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
Intrathecal ARTN‐Fc treatment attenuates TLR4/NF‐κB‐associated neuroinflammation, promotes microglia/macrophage polarization towards an anti‐inflammatory phenotype, and improves functional recovery after spinal cord injury. ARTN‐Fc also modulates inhibitory/excitatory synaptic marker expression in the L4–L5 spinal dorsal horn, which may contribute to ...
Wenjie Lu, Yurong Tu, Renkai Wang, Minghao Jiang, Junyu Zhuang, Jiahui Song, Ping Wu, Sunren Sheng, Sipin Zhu, Zhouguang Wang   +9 more
wiley   +1 more source

Effectiveness of Risdiplam Treatment in Adult Patients With Spinal Muscular Atrophy Type IIb-III. [PDF]

Rev Neurol
García Estévez DA.
europepmc   +1 more source

Maternal and infant gut microbiome

iMeta, Volume 5, Issue 4, August 2026.
The maternal–infant continuum involves critical windows of host–microbiota co‐adaptation. Preconception, maternal and paternal microbiomes modulate immunity and reproduction. During pregnancy, a gut–placenta axis emerges, where microbial metabolites influence fetal growth or contribute to complications like gestational diabetes mellitus (GDM ...
Huidi Wang, Felicia Tin, Hui Chen, Fuxin Jiao, Min Wu, Shanshan Sun, Lisha Lin, Die Li, Huimin Zheng, Zhenxin Niu, Mengyao Lan, Bahtiyar Yilmaz, Johan G. Eriksson, Mengjia Wang, Andrew Macpherson, Jose C. Clemente, Jia Xu, Ri‐hua Xie, Xiaojiao Zheng, Tao Zhou, Jinfeng Wang, Wei Shen, Bing Huang, Xia Chen, Hai Li, Yan He   +25 more
wiley   +1 more source

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy. [PDF]

Sci Rep
Buchignani B, Coratti G, Cutrì C, Scattoni ML, Pane M, Palermo C, Leone D, De Sanctis R, Stanca G, Antonaci L, Cutrona C, Pera MC, Brogna C, Cristofani P, Fulceri F, Baranello G, Mercuri E.   +16 more
europepmc   +1 more source

Exploring Genetic Therapies Targeting Amyotrophic Lateral Sclerosis in Animal Models: A Systematic Review and Meta‐Analysis

The Journal of Gene Medicine, Volume 28, Issue 8, August 2026.
Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease for which there is currently no known cure. This systematic review explores the efficacy of genetic therapies used to target ALS in preclinical studies using in vivo rodent models. Outcomes investigated include the total number of motor neurons, rodent survival, and muscle function
Hannah E. Wedgwood, Richard I. Tuxworth, Zubair Ahmed   +2 more
wiley   +1 more source