Results 311 to 320 of about 120,291 (395)

Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions. [PDF]

Orphanet J Rare Dis
Li H, Yu B, Yuan Y, Chen N, Wu J, Zhang Z.   +5 more
europepmc   +1 more source

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

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy. [PDF]

FEBS Lett
Cadile F, Ratto D, Rastelli G, Ferraro OE, Temporini C, Kumar S, Boncompagni S, Rossi P, Canepari M.   +8 more
europepmc   +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

Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy. [PDF]

Brain
Simon CM, Delestrée N, Montes J, Sowoidnich L, Gerstner F, Carranza E, Buettner JM, Pagiazitis JG, Prat-Ortega G, Ensel S, Donadio S, Dreilich V, Carlini MJ, Garcia JL, Kratimenos P, Chung WK, Sumner CJ, Weimer LH, Pirondini E, Capogrosso M, Pellizzoni L, De Vivo DC, Mentis GZ.   +22 more
europepmc   +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

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.

JAMA Netw Open
Ropars J, Cances C, Garcia-Uzquiano R, Gomez-Garcia de la Banda M, Barnerias C, Audic F, Durigneux J, Halbert C, Nkam L, Laugel V, Espil C, Walther-Louvier U, Davion JB, Isapof A, Le Goff L, Desguerre I, Quijano-Roy S, Grimaldi L, French SMA Registry Study Group.   +18 more
europepmc   +1 more source

Exploring the Trajectory of Swallowing Within Psychomotor Development in Spinal Muscular Atrophy: Moving Toward Integrated Care. [PDF]

Audiol Res
Gandolfi S, Dosi C, Parravicini S, Arnoldi MT, Zanin R, Biagi S, Rinaldi L, Masson R.   +7 more
europepmc   +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

Comorbidities in spinal muscular atrophy and their impact on the course of the underlying disease: a real-life observational study. [PDF]

BMC Musculoskelet Disord
Błauciak M, Ubysz J, Wieczorek M, Koszewicz M.   +3 more
europepmc   +1 more source