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]

open access: bronze, 1988
I Deschamps   +7 more
openalex   +1 more source

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early‐Onset and Familial Parkinson's Disease

open access: yesMovement Disorders Clinical Practice, EarlyView.
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]

open access: bronze, 1984
Ruth A. Wrightsman   +3 more
openalex   +1 more source

Identifying Common Disease Trajectories of Progressive Supranuclear Palsy with Electronic Health Records

open access: yesMovement Disorders Clinical Practice, EarlyView.
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

On Parsimony Haplotyping

open access: yes, 2008
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

open access: yesMovement Disorders, EarlyView.
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

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients

open access: yesMovement Disorders, EarlyView.
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

EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder

open access: yesMovement Disorders, EarlyView.
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

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