Results 71 to 80 of about 1,143 (221)

Summary of Research: Risdiplam Treatment Following Onasemnogene Abeparvovec in Individuals with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]

Adv Ther
Svoboda MD, Kuntz N, Leon-Astudillo C, Byrne BJ, Krueger J, Kwon JM, Sieburg C, Castro D.   +7 more
europepmc   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Spinal muscular atrophy type I in a 3.5-month-old male infant: A case report. [PDF]

Medicine (Baltimore)
Nawaz RN, Asjad W, Bashir R, Saeed SAA, Tayyab MZ, Khalid M.   +5 more
europepmc   +1 more source

Healthcare Professional Identified Priorities for a New Musculoskeletal Examination Scoring System for People With Hemophilia—an International Consensus

Haemophilia, EarlyView.
ABSTRACT Introduction The accurate physical examination of musculoskeletal (MSK) health is an essential part of proactive best practice care of people with hemophilia and must be consistently monitored in clinic. In response to current MSK tool limitations, the Musculoskeletal Health Expert Working Group (MSKH EWG) of the International Prophylaxis ...
Lizabeth Teshler, Audrey Abad, Magnus Aspdahl, Laura Avila, Melanie Bladen, Sharon Funk, Pamela Hilliard, Judy Ann John, Marilyn Manco‐Johnson, Janjaap van der Net, David Stephensen, Jean St‐Louis, Merel Timmer, Beth Boulden Warren, F. Virginia Wright, Nichan Zourikian, Brian M. Feldman   +16 more
wiley   +1 more source

Exploring the phenotypic and genotypic spectrum of spinal muscular atrophy in Bangladeshi children. [PDF]

BMC Neurol
Parvin J, Khan HA, Saha NC, Hoque SA, Hossain MM, Saha D, Shams N.   +6 more
europepmc   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Risdiplam Add-On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi-Center Case Series. [PDF]

Muscle Nerve
Stoltenburg C, Goldhahn K, von Moers A, Kaindl AM, Weiß C.   +4 more
europepmc   +1 more source

Editorial: Diagnosis of childhood spinal muscular atrophy. [PDF]

BMJ, 1973
openaire   +2 more sources

Human dissection and comparative anatomy: Archaeological evidence for nineteenth‐century anatomical practice at University College London

Journal of Anatomy, EarlyView.
Excavation at University College London revealed more than 8700 human skeletal fragments representing at least 38 individuals, alongside over 800 animal remains. Features consistent with dissection, specimen preparation and curation provide evidence for the use of human and animal material in nineteenth‐century anatomical education, offering rare ...
Wendy Birch, Tania Kausmally
wiley   +1 more source

Evaluation for radiographic changes in the coxofemoral joint and proximal femur following intramedullary stabilisation of diaphyseal femoral fractures using angle‐stable interlocking nails in skeletally immature patients

Journal of Small Animal Practice, EarlyView.
Objectives To evaluate a juvenile dog population that sustained diaphyseal femoral fractures surgically stabilised with an angle‐stable interlocking nail and evaluate for evidence of proximal femoral malformation both periooperatively and at skeletal maturity.
L. M. Meneghetti, S. R. O'Neill, K. L. Perry   +2 more
wiley   +1 more source