Search Results - "Kay DM"

Gut microbiota depletion alters functional recovery and bone healing following fracture in mice.

Authors: Kooima P Oesterle DA Hematti Y et al.

Source: Bone [Bone] 2026 Aug; Vol. 209, pp. 117907. Date of Electronic Publication: 2026 Apr 25.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.

Authors: Lo, Russell S. Cromie, Gareth A. Tang, Michelle et al.

Source: PLoS Genetics. 6/17/2026, Vol. 22 Issue 6, p1-22. 22p.

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3).

Authors: Level, Camille Faivre, Laurence Lemaitre, Margot et al.

Source: PLoS ONE. 6/15/2026, Vol. 21 Issue 6, p1-22. 22p.

Implementation of spinal muscular atrophy screening for newborns at a Singapore tertiary hospital.

Authors: Shetty, Shreya S. Palaniappan, Janaki Abirami Kuek, Wei Cheng David et al.

Source: Annals of the Academy of Medicine, Singapore. Feb2026, Vol. 55 Issue 2, p102-105. 4p.

The impact of freezing of gait on functional dependency in Parkinson's disease with regard to motor phenotype.

Authors: Santos-García, Diego de Deus-Fonticoba, Teres Suárez Castro, Ester et al.

Source: Neurological Sciences. Oct2020, Vol. 41 Issue 10, p2883-2892. 10p. 3 Charts, 3 Graphs.

Subjects: Parkinson's disease, Phenotypes, Disease duration, Tremor

Indication and diagnostic method selection for invasive prenatal genetic testing – review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing.

Authors: Verheyen, Sarah Pertl, Barbara Bierbaumer, Sophie et al.

Source: Medizinische Genetik. Apr2026, Vol. 38 Issue 2, p99-110. 12p.

Sphingolipidoses: expanding the spectrum of α-synucleinopathies.

Authors: Erskine D Bronowska AK Outeiro TF et al.

Source: Journal of neural transmission (Vienna, Austria : 1996) [J Neural Transm (Vienna)] 2026 May; Vol. 133 (5), pp. 809-821. Date of Electronic Publication: 2025 Apr 17.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 9702341 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-1463 (Electronic) Linking ISSN: 03009564 NLM ISO Abbreviation: J Neural Transm (Vienna) Subsets: MEDLINE

Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case–control study.

Authors: Lo, Tzuyao Kushima, Itaru Kimura, Hiroki et al.

Source: Neuropsychopharmacology Reports. Mar2024, Vol. 44 Issue 1, p42-50. 9p.

Distributionally Robust Group Testing with Correlation Information.

Authors: Long, Daniel Zhuoyu Qi, Jin Sun, Yu et al.

Source: Management Science (INFORMS). Apr2026, p1. 19p.

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Authors: Gialluisi, Alessandro Reccia, Mafalda Giovanna Modugno, Nicola et al.

Source: Molecular Neurodegeneration. 6/21/2021, Vol. 16 Issue 1, p1-18. 18p.

Longitudinal analysis of passively and actively acquired SARS-CoV-2 antibodies in infants with repeat newborn screening samples.

Authors: Damjanovic AK Keyel A Rock JM et al.

Source: Scientific reports [Sci Rep] 2025 Jul 04; Vol. 15 (1), pp. 23881. Date of Electronic Publication: 2025 Jul 04.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Cost estimation for spinal muscular atrophy diagnosis using multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.

Authors: Shekhawat, Dolat Singh Mittal, Amit Kumar Singh, Kuldeep et al.

Source: Journal of Neurosciences in Rural Practice. Apr-Jun2025, Vol. 16 Issue 2, p1-9. 9p.

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.

Authors: Xie, Yuhan Peng, Gang Tikhonova, Irina et al.

Source: BMC Medical Genomics. 11/19/2025, Vol. 18 Issue 1, p1-10. 10p.

Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience.

Authors: Gagliardi, Delia Canzio, Eleonora Orsini, Paola et al.

Source: Annals of Clinical & Translational Neurology. May2024, Vol. 11 Issue 5, p1090-1096. 7p.

Anorectal Malformations (ARM) and associated maternal factors among children at Tikur Anbessa Specialized Hospital and St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia: An unmatched case-control study.

Authors: Solomon, Samrawit Temesgen, Fisseha Tibebu, Solomon et al.

Source: PLoS ONE. 9/20/2024, Vol. 19 Issue 9, p1-16. 16p.

Role of HOXA13 Gene Polymorphisms in Children with Anorectal Malformations: A State-of-the-art Review.

Authors: Garimella, Venu Madhav Kumar, S. Saravana Rao, R. Malleswara et al.

Source: Journal of the Anatomical Society of India. Apr-Jun2026, Vol. 75 Issue 2, p191-196. 6p.

Oculomotor Dysfunction in Idiopathic and LRRK2-Parkinson's Disease and At-Risk Individuals.

Authors: Lage, Carmen Sánchez-Rodríguez, Antonio Rivera-Sánchez, María et al.

Source: Journal of Parkinson's Disease. 2024, Vol. 14 Issue 4, p797-808. 12p.

In vivo adenine base editing of mutant Galc gene ameliorates Krabbe disease progression.

Authors: Nam BG Seo JH Hong SA et al.

Source: Genome medicine [Genome Med] 2026 Apr 23; Vol. 18 (1). Date of Electronic Publication: 2026 Apr 23.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community.

Authors: Boardman F Howitt R Young P et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr 09. Date of Electronic Publication: 2026 Apr 09.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Novel Pooling Strategies for Genetic Testing, with Application to Newborn Screening.

Authors: El Hajj, Hussein Bish, Douglas R. Bish, Ebru K. et al.

Source: Management Science (INFORMS). Nov2022, Vol. 68 Issue 11, p7994-8014. 21p. 2 Diagrams, 4 Charts, 3 Graphs.