Results 221 to 230 of about 71,497 (297)

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

Cell Proliferation, EarlyView.
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

Identification and Phylogenetic Characterisation of Novel Adeno‐Associated Virus Capsids in Non‐Human Primate Tissues

Cell Proliferation, EarlyView.
AAV's widespread application is currently confronting critical challenges. This study established a systematic framework of ‘natural discovery–evolutionary analysis–functional optimization’, providing a new paradigm for the development of next‐generation AAV vectors with clinical‐grade tissue specificity, low immunogenicity, and cross‐species ...
Liyu Zhu, Kai Xu, Yali Ding, Kailun Liu, Jing Liu, Zongren Hou, Rui Niu, Ning Yang, Hualing Qin, Baoyang Hu, Ying Zhang, Wei Li   +11 more
wiley   +1 more source

Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe bulbar function trajectories in patients with spinal muscular atrophy (SMA) type 1 treated with nusinersen in the UK and Italy. Method In two previously reported, retrospective, observational cohort studies, we observed the 2‐year change in the Children's Eating and Drinking Ability Scale (CEDAS) (the revised and optimized ...
Georgia Stimpson, Lavinia Fanelli, Eleanor Conway, Emily Johnson, Beatrice Berti, Mariacristina Scoto, Francesco Muntoni, Eugenio Mercuri, Giovanni Baranello, the p‐FOIS/CEDAS and OrSAT Working Group, Nikki Cornell, Giulia Stanca, Giorgia Coratti, Marika Pane   +13 more
wiley   +1 more source

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A

Developmental Medicine &Child Neurology, EarlyView.
To our knowledge, we are the first to provide constructed disease‐specific growth charts for PCH2A (age 0–18 years). Constructed growth charts (0–2 years) for height, weight, body mass index, and head circumference are compared in a sex‐disaggregated manner to typically developing children. Failure to thrive is evident despite normal caloric intake and
Alice Kuhn, Maren Hackenberg, Anna‐Lena Klauser, Antonia Herrmann, Julia Matilainen, Simone Mayer, Saskia Frölich, Ingeborg Krägeloh‐Mann, Samuel Groeschel, Wibke G. Janzarik   +9 more
wiley   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

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

Developmental Medicine &Child Neurology, EarlyView.
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

Correlation Between the Motor Outcomes and SMN2 and NAIP Gene Copy Numbers Among North Indian Children with Spinal Muscular Atrophy. [PDF]

Ann Indian Acad Neurol
Singh S, Suthar R, Srivastava P, Pandey A, Kaur A, Sahu JK.   +5 more
europepmc   +1 more source

Central nervous system involvement in cardiac amyloidosis: Redefining the heart‐brain axis

European Journal of Clinical Investigation, EarlyView.
Central nervous system involvement in cardiac amyloidosis. Amyloidosis is a systemic disease that can directly affect the central nervous system. Furthermore, the amyloid cardiomyopathy can indirectly affect the central nervous system by inducing systemic hypoperfusion and increasing the risk of acute ischaemic stroke.
Domenico Mario Giamundo, Giuliano Cassataro, Stefano Ministrini, Simon F. Stämpfli   +3 more
wiley   +1 more source

Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy. [PDF]

Brain Pathol
Cottam NC, Dowling M, Kong L, Chan-Cortés MH, Charvet CJ, Norzeron N, Grover C, Harrington MA, Sumner CJ, Sun J.   +9 more
europepmc   +1 more source

Bilateral laryngeal paralysis (aplegia) occurring late during the recovery of a horse after orthopaedic surgery

Equine Veterinary Education, EarlyView.
Summary A 9‐year‐old male castrated Standardbred was presented for evaluation of a comminuted right front first phalanx fracture. On initial clinical examination, mild haemoconcentration and increased vital parameters were noted. After overnight hospitalisation, the horse underwent general anaesthesia for surgical fracture repair.
I. Lutvikadic, K. Hopster, B. Driessen
wiley   +1 more source