Results 171 to 180 of about 2,481 (285)

Cost comparison analysis of onasemnogene abeparvovec and nusinersen for treatment of patients with spinal muscular atrophy type 1 in the Netherlands. [PDF]

Eur J Health Econ
van der Schans S, Velikanova R, Weidlich D, Howells R, Patel A, Bischof M, Postma MJ, Boersma C.   +7 more
europepmc   +1 more source

PGAP1‐Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature

International Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.
This graphical abstract illustrates the comprehensive diagnostic approach, from next‐generation sequencing and bioinformatics to variant analysis and protein modelling, that led to the identification of a novel PGAP1 gene variant in an infant with neurodevelopmental delay and encephalopathy.
Savas Baris, Cuneyd Yavas
wiley   +1 more source

Families' Perceptions of Powered Mobility for Participation in Children With Spinal Muscular Atrophy Type 1: A Photovoice Study. [PDF]

Health Expect
Coello-Villalón M, Díaz-López CI, López-Muñoz P, Romay-Barrero H, Pacheco-da-Costa S, Plasencia-Robledo M, Longo E, Palomo-Carrión R.   +7 more
europepmc   +1 more source

Subspecialty neurology genetic counselors—A cost effective solution to substantial time costs associated with genomic testing in the neurology clinic

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract To understand the modality and results of genetic testing in a tertiary pediatric neurology center, we undertook a review of testing to provide insights into both direct and indirect costs of testing within the department. The financial cost of 5 years (2017–2022) of genetic testing sent by the neurology department in Children's Health Ireland,
John Coleman, Patrick Moloney, Claire Giffney, Mary O. Regan, David Webb, Kenny Lynch, Leona Connolly, Janna Kenny, Susan Byrne   +8 more
wiley   +1 more source

Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China. [PDF]

BMC Pediatr
Peng J, Yao X, Luo R, Wang X, Wu L, Zhong J, Jin R, Lu X, Liang J, Hong S, Yang L, Zhang X, Mao S, Tao Z, Hu J, Sun D, Wang H, Zhang L, Xia Y, Chen K, Wang Y.   +20 more
europepmc   +1 more source

Evaluating pregnancy termination rates for fetal chromosome and single gene disorders

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract We report pregnancy termination rates following a variety of fetal diagnoses and determine which factors may influence this decision. We conducted a retrospective chart review of pregnancies diagnosed with a genetic abnormality at a single institution from January 2012 to April 2023.
Madeline J. Herman, Emily B. Rosenfeld, Nicole Kasatkin, Gary A. Heiman, Shama P. Khan, Elena Ashkinadze   +5 more
wiley   +1 more source

Risdiplam in Adult Patients With 5q Spinal Muscular Atrophy: A Single-Center Longitudinal Study. [PDF]

Muscle Nerve
Gavriilaki M, Moschou M, Pagiantza M, Arnaoutoglou M, Kimiskidis V.   +4 more
europepmc   +1 more source

Magnetic Resonance Imaging for Dental Pulp Assessment: A Comprehensive Review

Journal of Magnetic Resonance Imaging, Volume 62, Issue 2, Page 362-388, August 2025.
ABSTRACT Magnetic resonance imaging (MRI) has recently emerged as a promising modality for dental applications, offering radiation‐free imaging with superior soft tissue visualization capabilities compared to x‐ray‐based techniques such as spiral or cone beam computed tomography (CBCT).
Bing Han, Na Chen, Jin Luo, Farzaneh Afkhami, Ove A. Peters, Xiaoyan Wang   +5 more
wiley   +1 more source

Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients. [PDF]

Genes (Basel)
Nishio H, Niba ETE, Saito T, Okamoto K, Lee T, Takeshima Y, Awano H, Lai PS.   +7 more
europepmc   +1 more source

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)

Molecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
DAIPT is a rare genetic disease caused by PIEZO2 gene mutations. We identified two novel variants of the gene, a nonsense and an intronic substitution, in a child with suspected DAIPT. Functional studies confirmed the effect of the nonsense variant and demonstrated the pathogenicity of the intronic one by providing a conclusive diagnosis of DAIPT. This
Michela Bellardita, Ferruccio Romano, Ludovica Menta, Joana Soraia Martinheira Da Silva, Marzia Ognibene, Simona Baldassari, Marco Di Duca, Chiara Panicucci, Serena Baratto, Noemi Brolatti, Marina Pedemonte, Chiara Fiorillo, Claudio Bruno, Marcello Scala, Federico Zara, Francesca Faravelli, Francesca Madia, Serena Cappato, Renata Bocciardi, Valeria Capra   +19 more
wiley   +1 more source