Allele-dependent Similarity between Viral and Self-peptide Presentation by HLA-B27 Subtypes [PDF]
, 2004 Maria Teresa Fiorillo +6 more
openalex +1 more source
Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition [PDF]
, 2020 Timo A. Kumpula +8 more
openalex +1 more source
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Contrasting patterns of spatial genetic differentiation in two east asian five-needle pine species, Pinus koraiensis and P. armandii [PDF]
Annals of Forest Research, 2008 Two species of East Asian five-needle pines of the section Strobus, Korean pine, Pinus koraiensis Sieb. et Zucc. and Armand's pine, Pinus armandii Franch are traditionally placed in two different subsections, Cembrae and Strobi, respectively.However ...
Belokon M.-M. +2 more
doaj
Identification and separation of DNA mixtures using peak area information (Updated version of Statistical Research Paper No. 25) [PDF]
, 2006 We introduce a new methodology, based upon probabilistic expert systems, for analysing forensic identification problems involving DNA mixture traces using quantitative peak area information.
Cowell, R. +2 more
core
The pedigree analysis and prenatal diagnosis of Hong Kongαα Thalassemia and the sequence analysis of Hong Kongαα Allele [PDF]
, 2020 Wenjuan Wang +8 more
openalex +1 more source
An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source
Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt +5 more
wiley +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source