Results 131 to 140 of about 1,822 (274)

Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy. [PDF]

Eur J Pediatr
Mercuri E, Coratti G, Cutrona C, De Sanctis R, Stanca G, Cicala G, Villa M, Capasso A, Arpaia C, Sbarbati M, Krosschell K, Romeo D, Berti B, Finkel R, Pane M.   +14 more
europepmc   +1 more source

Efficacy of physiotherapy and aquatherapy in children with spinal muscular atrophy: a literature review [PDF]

La atrofia muscular espinal (AME) se caracteriza por ser una enfermedad autosómica recesiva que ocasiona que en la médula espinal se degeneren las neuronas motoras alfa; lo cual, conlleva a debilidad muscular proximal progresiva.
Sotelo Rospigliosi, Milagros Cristina
core  

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, Volume 12, Issue 10, Page 2136-2151, October 2025.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

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

Development of a Vaginal Extracellular Matrix Hydrogel for Combating Genitourinary Syndrome of Menopause

Advanced Materials, Volume 37, Issue 39, October 2, 2025.
In this study, a vaginal specific ECM hydrogel (vECM) is developed, optimized for intravaginal topical administration, and evaluated for mitigatation of vaginal atrophy associated with menopause. When applied in a rat model of menopause, vECM improves vaginal epithelial thickness and stem cell phenotype, and despite topical application, vECM also ...
Emma I. Zelus, Jacqueline Grime, Anthony Saviola, Maxwell McCabe, Kirk C. Hansen, Marianna Alperin, Karen L. Christman   +6 more
wiley   +1 more source

Hirayama Disease in a Young Male: A Case Report. [PDF]

JNMA J Nepal Med Assoc
Paudel S, Rokaha PS, Rokaha PS, Karki L, Thapa P.   +4 more
europepmc   +1 more source

Analyses of GWAS and Sub‐Threshold Loci Lead to the Discovery of Dendrite Development and Morphology Dysfunction Underlying Schizophrenia Genetic Risk

Advanced Science, Volume 12, Issue 39, October 20, 2025.
A cost‐effective strategy is developed analyzing sub‐threshold GWAS loci (5 × 10−8 < P ≤ 10−6), identifying 180 risk loci and 304 high‐confidence genes through combined GWAS/subGWAS analysis. This approach reveals dendrite development and morphogenesis (DDM) as a novel SCZ pathway.
Rui Chen, Benjamin Siciliano, Quan Wang, Chongchong Xu, Qiang Wei, Hai Yang, James S Sutcliffe, Yi Jiang, Ying Ji, Chunyu Liu, Feixiong Cheng, Edwin H Cook, Nancy J Cox, Xue Zhong, Zhexing Wen, Bingshan Li   +15 more
wiley   +1 more source

[Childhood spinal muscular atrophies].

Neurologia (Barcelona, Spain), 1997
Current knowledge of infantile spinal muscular atrophies (ISA) is reviewed by analyzing cases seen by the neurology service at Hospital Sant Joan de Déu in Barcelona from 1978 through 1986. The assessment is mainly clinical. The total number of patients is 60, as follows: 24 with severe or type I forms, 24 with intermediate or type II forms and 12 with
openaire   +1 more source

Genetic testing in the diagnosis of cerebral palsy: First‐tier for all versus a ‘choosing wisely’ approach

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1376-1377, November 2025.
Ingeborg Krägeloh‐Mann
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