Results 151 to 160 of about 20,899 (290)

Mapping VEXAS‐associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population

British Journal of Haematology, Volume 208, Issue 1, Page 116-128, January 2026.
VEXAS syndrome is a late‐onset inflammatory disorder with rheumatological and haematological features. Epidemiological studies of VEXAS syndrome so far have been limited. Analysis of various UK cohorts estimates the incidence of VEXAS to be 1.51/100 000, or 171 new cases in the population of men over the age of 50 who are being investigated for myeloid
Ana Martinez Rodriguez, Leon Chang, Dorota Rowczenio, Alexandra Smith, Ebun Omoyinmi, James A. Poulter, Andrew McGregor, Sebastian Francis, Roochi Trikha, Adam Al‐Hakim, Kar Lok Kong, David G. Kent, Helen Lachmann, Austin Kulasekararaj, Catherine Cargo, Sinisa Savic   +15 more
wiley   +1 more source

Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature

Frontiers in Pediatrics
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5, leading to the degeneration of lower motor neurons.
Hua Yang, Hua Yang, Jie Yang, Jie Yang, Yawen Xue, Lihui Liao, Qianyun Cai, Qianyun Cai, Rong Luo, Rong Luo   +9 more
doaj   +1 more source

EE245 Indirect Cost of Spinal Muscular Atrophy (SMA) in Singapore [PDF]

, 2023
Zoe Zon Be Lim, S K Tay, Fang Wang, Sam Ling, Yujin Lim, Yan Wang   +5 more
openalex   +1 more source

Scoliosis: Congenital, Neuromuscular, Syndromic, and Other Nonidiopathic Types, Understanding and managing the condition: A practical guide for familiesBy Tenner J. Guillaume, Walter H. Truong, Danielle Harding, Lily Collison, and Cheryl Tveit Gillette Children's Healthcare Series. St Paul, MN: Gillette Children's Healthcare Press, 2025, £45.00 (paperback), £10.00 (eBook), pp. 316, ISBN: 9781952181214

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 295-296, February 2026.
Brian Snyder
wiley   +1 more source

Piezo2 in Mechanosensory Biology: From Physiological Homeostasis to Disease‐Promoting Mechanisms

Cell Proliferation, Volume 59, Issue 1, January 2026.
Piezo2 channels are essential mechanotransducers regulating touch, proprioception and visceral mechanosensation across physiological systems, emerging as therapeutic targets for pathological mechanical hypersensitivity and neurogenic disorders. ABSTRACT Piezo2, a mechanically activated ion channel, serves as the key molecular transducer for touch ...
Zhebin Cheng, Zuping Wu, Mengjie Wu, Liang Xie, Qianming Chen   +4 more
wiley   +1 more source

A NETWORK-BIOLOGY BASED APPROACH FOR THE EVALUATION OF NOVEL TREATMENT TARGETS FOR SPINAL MUSCULAR ATROPHY (SMA) [PDF]

, 2023
Ines Tapken, Theresa Schweitzer, Andreas Pich, Peter Claus   +3 more
openalex   +1 more source

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1. [PDF]

Front Pediatr, 2022
Boursange S, Araneda M, Stalens C, Desguerre I, Barnerias C, Nougues MC, Isapof A, Quijano-Roy S, Blu Genestine N, Ouillade L, Martinez Jalilie M, Castiglioni C, Boespflug-Tanguy O, Gargiulo M, SMAPAR Study Group.   +14 more
europepmc   +1 more source

Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. [PDF]

, 1991
Z Borochowitz, Bruce Glick, S Blazer
openalex   +1 more source

The Effect of Gene Therapy on Respiratory Support and Hospitalization in Children with Spinal Muscular Atrophy (SMA): An Experience from Qatar [PDF]

, 2021
Sara G. Hamad, Amal Al-Naimi, Reem Mohamed, Tawfeg Ben Omran, Khalid Ibrahim, Mahmoud O. Fawzi, Mutasim Abu‐Hasan   +6 more
openalex   +1 more source

Changes in the cortical GABAergic inhibitory system with ageing and ageing‐related neurodegenerative diseases

The Journal of Physiology, Volume 604, Issue 2, Page 689-706, 15 January 2026.
Abstract figure legend With ageing and age‐related neurodegenerative diseases, the amount of GABA and GABAergic inhibition as well as the modulation (indicated by sine wave) of GABAergic inhibition is reduced, whereas excitation is increased. In many parts of the brain, this leads to a mismatch of facilitatory (green neurons) and inhibitory (red ...
Wolfgang Taube, Benedikt Lauber
wiley   +1 more source