Search Results - "Joyce CL"

Low-coverage whole-genome sequencing facilitates accurate and cost-effective haplotype reconstruction in complex mouse crosses.

Authors: Widmayer, Samuel J. Wooldridge, Lydia K. Swanzey, Emily et al.

Source: Mammalian Genome. Dec2025, Vol. 36 Issue 4, p1063-1080. 18p.

MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients.

Authors: Hassan, Heba A. Fahmy, Nagia A. El-Bagoury, Nagham M. et al.

Source: Egyptian Journal of Medical Human Genetics. 12/5/2022, Vol. 23 Issue 1, p1-9. 9p.

Assessing physical function after completing a supervised education and exercise program in adults with type 2 diabetes and exploring exercise motivation at one-year follow up: A case series study.

Authors: Janssen, Sarah M. Connelly, Denise M. Shields, Chris et al.

Source: Physiotherapy Theory & Practice. Dec2023, Vol. 39 Issue 12, p2662-2675. 14p.

Biomarkers in 5q-associated spinal muscular atrophy-a narrative review.

Authors: Lapp HS Freigang M Hagenacker T et al.

Source: Journal of neurology [J Neurol] 2023 Sep; Vol. 270 (9), pp. 4157-4178. Date of Electronic Publication: 2023 Jun 08.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Control of cell death and mitochondrial fission by ERK1/2 MAP kinase signalling.

Authors: Cook, Simon J. Stuart, Kate Gilley, Rebecca et al.

Source: FEBS Journal. Dec2017, Vol. 284 Issue 24, p4177-4195. 19p.

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.

Authors: Czech, Christian Tang, Wakana Bugawan, Teodorica et al.

Source: PLoS ONE. 10/15/2015, Vol. 10 Issue 10, p1-11. 11p.

Nitric oxide induces acrosome reaction in cryopreserved bovine spermatozoa.

Authors: Rodriguez, P. C. O'Flaherty, C. M. Beconi, M. T. et al.

Source: Andrologia. Oct2005, Vol. 37 Issue 5, p166-172. 7p. 3 Graphs.

Holding and Mobility of Pediatric Patients With Transthoracic Intracardiac Catheters.

Authors: Lisanti, Amy Jo Helman, Stephanie Sorbello, Andrea et al.

Source: Critical Care Nurse. Aug2020, Vol. 40 Issue 4, p16-24. 9p. 2 Color Photographs, 6 Charts, 1 Graph.

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Authors: Pera, Maria Carmela Coratti, Giorgia Berti, Beatrice et al.

Source: PLoS ONE. 3/23/2020, Vol. 15 Issue 3, p1-10. 10p.

Impaired myogenic development, differentiation and function in hESC-derived SMA myoblasts and myotubes.

Authors: Hellbach, Nicole Peterson, Suzanne Haehnke, Daniel et al.

Source: PLoS ONE. 10/10/2018, Vol. 13 Issue 10, p1-21. 21p.

Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.

Authors: Strathmann, Eike A. Peters, Miriam Hosseinibarkooie, Seyyedmohsen et al.

Source: PLoS ONE. 9/6/2018, Vol. 13 Issue 9, p1-28. 28p.

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.

Authors: Chabanon, Aurélie Seferian, Andreea Mihaela Daron, Aurore et al.

Source: PLoS ONE. 7/26/2018, Vol. 13 Issue 7, p1-28. 28p.

The impact of drugs on male fertility: a review.

Authors: Semet, M. Paci, M. Saïas‐Magnan, J. et al.

Source: Andrology. Jul2017, Vol. 5 Issue 4, p640-663. 24p.

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.

Authors: Wadman, Renske I. Stam, Marloes Jansen, Marc D. et al.

Source: PLoS ONE. 11/28/2016, Vol. 11 Issue 11, p1-17. 17p.

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials.

Authors: Zaworski, Phillip von Herrmann, Katharine M. Taylor, Shannon et al.

Source: PLoS ONE. 3/8/2016, Vol. 11 Issue 3, p1-18. 18p.

Evaluating the effect of Japan's 2004 postgraduate training programme on the spatial distribution of physicians.

Authors: Rie Sakai Hiroshi Tamura Rei Goto et al.

Source: Human Resources for Health. 2015, Vol. 13 Issue 1, p1-12. 12p. 1 Diagram, 9 Charts.

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.

Authors: Ping Fang Liang Li Jian Zeng et al.

Source: BMC Musculoskeletal Disorders. 2015, Vol. 16 Issue 1, p1-8. 8p. 2 Diagrams, 6 Charts.

Inositol pyrophosphates mediate the effects of aging on bone marrow mesenchymal stem cells by inhibiting Akt signaling.

Authors: Zheng Zhang Chuanxu Zhao Bing Liu et al.

Source: Stem Cell Research & Therapy. 2014, Vol. 5 Issue 2, p33-44. 12p. 3 Color Photographs, 3 Graphs.

Polyubiquitination and proteasomal turnover controls the anti-apoptotic activity of Bcl-B.

Authors: van de Kooij, B Rooswinkel, R W Kok, F et al.

Source: Oncogene. 11/28/2013, Vol. 32 Issue 48, p5439-5448. 10p.

SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy.

Authors: Kobayashi, Dione T. Shi, Jing Stephen, Laurie et al.

Source: PLoS ONE. Apr2013, Vol. 8 Issue 4, p1-16. 16p.