Results 121 to 130 of about 1,822 (274)

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

, 2019
С. В. Курбатов, Polina Tsygankova, K. Yu. Mollaeva, Igor Bychkov, Yu. S. Itkis, В. В. Забненкова, Z. R. Umakhanova, L. G. Geybatova, Ekaterina Zakharova   +8 more
openalex   +2 more sources

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1421-1442, November 2025.
This systematic review found that while the Gross Motor Function Measure (GMFM) is widely used across 208 studies involving various pediatric conditions beyond cerebral palsy, validation studies exist for only eight conditions with generally low‐quality evidence.
Hirokazu Abe, Shuhei Higashi, Nobuaki Himuro   +2 more
wiley   +1 more source

Loss of SMN Impairs Osteoblast–Osteoclast Coupling via IGF1–Akt–OPG Axis in Spinal Muscular Atrophy

The FASEB Journal, Volume 39, Issue 20, 31 October 2025.
Loss of SMN impairs osteoblast–osteoclast coupling by disrupting the IGF1–Akt–OPG signaling axis, which leads to defective bone remodeling in spinal muscular atrophy. The graphical abstract highlights this molecular mechanism underlying skeletal pathology in SMA.
Taiyang Xiang, Zijie Zhou, Yaoyao Li, Yinxuan Suo, Jun Dai, Xiaoyan Shi, Xiaozhong Zhou, Lei Sheng   +7 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

Role of the Chest Wall in Newborn Respiratory Function at Birth

The FASEB Journal, Volume 39, Issue 19, 15 October 2025.
At birth, liquid is cleared from the airways into lung tissue during lung aeration, causing the lungs to swell, which in turn causes the chest wall to expand. As the newborn chest wall is highly compliant, it can easily expand, but its high compliance reduces breathing efficiency after birth.
C. Diedericks, K. J. Crossley, I. M. Davies, D. A. Blank, S. J. E. Cramer, M. J. Wallace, A. B. te Pas, M. J. Kitchen, S. B. Hooper   +8 more
wiley   +1 more source

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies. [PDF]

Genes (Basel)
Škarica M, Acsadi G, Živković SA.
europepmc   +1 more source

Childhood spinal muscular atrophy and stem cell research: Is cellular replacement therapy the answer? (Review)

, 2008
Pablo Young
openalex   +2 more sources

Nusinersen versus sham control in later-onset spinal muscular atrophy [PDF]

, 2018
Connolly, A. M., et al,
core   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, Volume 12, Issue 10, Page 2020-2035, October 2025.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source