Results 271 to 280 of about 185,318 (333)

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

open access: yesMovement Disorders, EarlyView.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing   +22 more
wiley   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

open access: yesMovement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije   +26 more
wiley   +1 more source

Uncovering a new species of Hemileccinum (Boletaceae, Basidiomycota) from India with morphological characteristics and multi‐gene molecular phylogeny

open access: yesNordic Journal of Botany, EarlyView.
While undertaking macrofungal forays to several forested areas of Uttarakhand (India), a noteworthy and previously unknown species of Hemileccinum was unveiled. This species is proposed here as Hemileccinum indicum sp. nov. It is presented with both morphological characteristics and multigene molecular phylogenetic analysis.
Kanad Das   +3 more
wiley   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

open access: yesPediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo   +18 more
wiley   +1 more source

Brownotate, a Comprehensive Solution to Generate Protein Sequence Databases for Any Species

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Proteomics is strengthening research in biology and the diversification of the model organisms studied is very promising for fully understanding the complexity of biological principles. However, the lack of protein sequence databases for many species is a major bottleneck.
Adrien Brown   +4 more
wiley   +1 more source

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