Results 141 to 150 of about 290,368 (328)
Two distinct HLA-DR3 haplotypes are associated with age related heterogeneity in Type 1 (insulin-dependent) diabetes [PDF]
I Deschamps+7 more
openalex +1 more source
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown. Objective The aim was to evaluate the frequency and phenotype of p.L1795F in early‐onset PD (EOPD) and familial PD compared to healthy controls (HC ...
Miriam Ostrozovicova+35 more
wiley +1 more source
Role of the H-2s haplotype in survival of mice after infection with Trypanosoma cruzi [PDF]
Ruth A. Wrightsman+3 more
openalex +1 more source
Abstract Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder characterized by parkinsonism and impairments in balance, language, and cognition. As an atypical parkinsonism, PSP progresses rapidly, lacks effective treatments, and poses significant caregiving burdens. While prior studies have identified risk factors, they
Mingzhou Fu+3 more
wiley +1 more source
We present some structural and algorithmic results related to the parsimony haplotyping problem.
Cicalese, Ferdinando, Milanivc, Martin
openaire +1 more source
Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin+9 more
wiley +1 more source
THE CIS-TRANS TEST SHOWS NO EVIDENCE FOR A FUNCTIONAL RELATIONSHIP BETWEEN TWO MOUSE t COMPLEX LETHAL MUTATIONS: IMPLICATIONS FOR THE EVOLUTION OF t HAPLOTYPES [PDF]
Paul E. Mains
openalex +1 more source
Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients
Abstract Background Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent.
Paula Saffie‐Awad+22 more
wiley +1 more source
ABSTRACT Background Congenital mirror movement disorders (CMMs) are clinically and genetically heterogeneous in human patients. CMMs have not been documented to occur spontaneously in animals. Objective The objective of this work was to document the first case of CMMs spontaneously occurring in Weimaraner dogs and to identify the underlying genetic ...
Cleo Schwarz+11 more
wiley +1 more source